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1.
Front Public Health ; 12: 1355659, 2024.
Article En | MEDLINE | ID: mdl-38807991

Background: The Tibetan population residing in high-altitude (HA) regions has adapted to extreme hypoxic environments. However, there is limited understanding of the genetic basis of body compositions in Tibetan population adapted to HA. Methods: We performed a genome-wide association study (GWAS) to identify genetic variants associated with HA and HA-related body composition traits. A total of 755,731 single nucleotide polymorphisms (SNPs) were genotyped using the precision medicine diversity array from 996 Tibetan college students. T-tests and Pearson correlation analysis were used to estimate the association between body compositions and altitude. The mixed linear regression identified the SNPs significantly associated with HA and HA-related body compositions. LASSO regression was used to screen for important SNPs in HA and body compositions. Results: Significant differences were observed in lean body mass (LBW), muscle mass (MM), total body water (TBW), standard weight (SBW), basal metabolic rate (BMR), total protein (TP), and total inorganic salt (Is) in different altitudes stratification. We identified three SNPs in EPAS1 (rs1562453, rs7589621 and rs7583392) that were significantly associated with HA (p < 5 × 10-7). GWAS analysis of 7 HA-related body composition traits, we identified 14 SNPs for LBM, 11 SNPs for TBW, 15 SNPs for MM, 16 SNPs for SBW, 9 SNPs for BMR, 12 SNPs for TP, and 26 SNPs for Is (p < 5.0 × 10-5). Conclusion: These findings provide insight into the genetic basis of body composition in Tibetan college students adapted to HA, and lay the foundation for further investigation into the molecular mechanisms underlying HA adaptation.


Altitude , Body Composition , Genome-Wide Association Study , Polymorphism, Single Nucleotide , Humans , Tibet , Polymorphism, Single Nucleotide/genetics , Male , Female , Body Composition/genetics , Young Adult , Adult , Adaptation, Physiological/genetics , Basic Helix-Loop-Helix Transcription Factors/genetics , Genotype , East Asian People
2.
BMC Geriatr ; 24(1): 438, 2024 May 18.
Article En | MEDLINE | ID: mdl-38762444

BACKGROUND: Appendicular lean mass (ALM) is a good predictive biomarker for sarcopenia. And previous studies have reported the association between ALM and stroke or Alzheimer's disease (AD), however, the causal relationship is still unclear, The purpose of this study was to evaluate whether genetically predicted ALM is causally associated with the risk of stroke and AD by performing Mendelian randomization (MR) analyses. METHODS: A two-sample MR study was designed. Genetic variants associated with the ALM were obtained from a large genome-wide association study (GWAS) and utilized as instrumental variables (IVs). Summary-level data for stroke and AD were generated from the corresponding GWASs. We used random-effect inverse-variance weighted (IVW) as the main method for estimating causal effects, complemented by several sensitivity analyses, including the weighted median, MR-Egger, and MR-pleiotropy residual sum and outlier (MR-PRESSO) methods. Multivariable analysis was further conducted to adjust for confounding factors, including body mass index (BMI), type 2 diabetes mellitus (T2DM), low density lipoprotein-C (LDL-C), and atrial fibrillation (AF). RESULTS: The present MR study indicated significant inverse associations of genetically predicted ALM with any ischemic stroke ([AIS], odds ratio [OR], 0.93; 95% confidence interval [CI], 0.89-0.97; P = 0.002) and AD (OR, 090; 95% CI 0.85-0.96; P = 0.001). Regarding the subtypes of AIS, genetically predicted ALM was related to the risk of large artery stroke ([LAS], OR, 0.86; 95% CI 0.77-0.95; P = 0.005) and small vessel stroke ([SVS], OR, 0.80; 95% CI 0.73-0.89; P < 0.001). Regarding multivariable MR analysis, ALM retained the stable effect on AIS when adjusting for BMI, LDL-C, and AF, while a suggestive association was observed after adjusting for T2DM. And the estimated effect of ALM on LAS was significant after adjustment for BMI and AF, while a suggestive association was found after adjusting for T2DM and LDL-C. Besides, the estimated effects of ALM were still significant on SVS and AD after adjustment for BMI, T2DM, LDL-C, and AF. CONCLUSIONS: The two-sample MR analysis indicated that genetically predicted ALM was negatively related to AIS and AD. And the subgroup analysis of AIS revealed a negative causal effect of genetically predicted ALM on LAS or SVS. Future studies are required to further investigate the underlying mechanisms.


Alzheimer Disease , Genome-Wide Association Study , Mendelian Randomization Analysis , Stroke , Humans , Mendelian Randomization Analysis/methods , Alzheimer Disease/genetics , Alzheimer Disease/epidemiology , Alzheimer Disease/diagnosis , Stroke/genetics , Stroke/epidemiology , Genome-Wide Association Study/methods , Aged , Male , Female , Body Composition/physiology , Body Composition/genetics , Risk Factors , Body Mass Index , Sarcopenia/genetics , Sarcopenia/epidemiology , Sarcopenia/diagnosis
3.
Sci Rep ; 14(1): 8825, 2024 04 17.
Article En | MEDLINE | ID: mdl-38627436

In Maori and Pacific adults, the CREBRF rs373863828 minor (A) allele is associated with increased body mass index (BMI) but reduced incidence of type-2 and gestational diabetes mellitus. In this prospective cohort study of Maori and Pacific infants, nested within a nutritional intervention trial for pregnant women with obesity and without pregestational diabetes, we investigated whether the rs373863828 A allele is associated with differences in growth and body composition from birth to 12-18 months' corrected age. Infants with and without the variant allele were compared using generalised linear models adjusted for potential confounding by gestation length, sex, ethnicity and parity, and in a secondary analysis, additionally adjusted for gestational diabetes. Carriage of the rs373863828 A allele was not associated with altered growth and body composition from birth to 6 months. At 12-18 months, infants with the rs373863828 A allele had lower whole-body fat mass [FM 1.4 (0.7) vs. 1.7 (0.7) kg, aMD -0.4, 95% CI -0.7, 0.0, P = 0.05; FM index 2.2 (1.1) vs. 2.6 (1.0) kg/m2 aMD -0.6, 95% CI -1.2,0.0, P = 0.04]. However, this association was not significant after adjustment for gestational diabetes, suggesting that it may be mediated, at least in part, by the beneficial effect of CREBRF rs373863828 A allele on maternal glycemic status.


Body Composition , Diabetes, Gestational , Tumor Suppressor Proteins , Female , Humans , Infant , Pregnancy , Body Composition/genetics , Body Mass Index , Maori People , Obesity , Prospective Studies , Tumor Suppressor Proteins/genetics
4.
Meat Sci ; 214: 109518, 2024 Aug.
Article En | MEDLINE | ID: mdl-38677055

This is the first UK genome wide association study investigating potential links between Video Image Analysis (VIA) carcass traits and molecular polymorphisms in crossbred sheep. Phenotypic and genotypic data were collected from two crossbred lamb populations: Texel x Scotch Mule (TxSM, n = 2330) and Texel x Lleyn (TxL, n = 3816). Traits measured included live weights at birth, eight weeks and weaning (∼15 weeks). VIA-predicted traits included total weights and weights of fat, muscle and bone in the whole carcass and primal (hind leg, saddle, shoulder) regions. Within-breed heritabilities estimated for the VIA traits ranged from 0.01 to 0.70, indicating potential for inclusion of some traits in breeding programmes. The two crossbred populations differed in SNPs associated with different traits. Two SNPs on chromosomes two (s74618.1) and eight (s68536.1), respectively, reached genome-wise significance for TxSM, explaining <1% of trait variance, for whole carcass fat and muscle weights, hind leg and saddle fat weights and shoulder bone weights. For TxL, four SNPs reached genome-wise significance, on chromosome two for hind leg muscle weight (OAR2_117,959,202 and OAR2_11804335), on chromosome 10 for whole carcass bone weight (OAR19_8,995,957.1), and on chromosome 19 for weaning weight (s40847.1), each explaining <1% of trait genetic variation. Differences in apparent genetic control of carcass traits may be influenced by the lambs' cross-breed, but also by management decisions affecting environmental variance and trait definitions, which should be understood in order to define protocols for incorporation of carcass traits into (cross)breeding programmes. IMPLICATIONS: Combining VIA-measured carcass traits with conventional production traits in a breeding programme could potentially improve the production and product quality of meat sheep. Phenotypes for VIA traits could be collected relatively easily if VIA machines were present at all abattoir sites. The current study and future Genome Wide Association Studies may help to identify potentially informative molecular markers, that explain large proportions of the genetic variance observed in VIA-measured carcass traits. Including this information in the estimation of breeding values could increase the accuracy of prediction, increasing the potential rate of genetic improvement for product quality. This study confirms the polygenic architecture of the investigated carcass traits, with a small number of molecular markers that each explain a small amount of genetic variation. Further studies across breed types are recommended to further test and validate molecular markers for traits related to lamb carcass quality, as measured by video image analysis.


Breeding , Genome-Wide Association Study , Muscle, Skeletal , Phenotype , Polymorphism, Single Nucleotide , Red Meat , Sheep, Domestic , Animals , Red Meat/analysis , Sheep, Domestic/genetics , Male , Adipose Tissue , Female , Genotype , Body Composition/genetics , Body Weight/genetics , Image Processing, Computer-Assisted/methods , Video Recording
5.
Endocrinology ; 165(5)2024 Mar 29.
Article En | MEDLINE | ID: mdl-38578949

OBJECTIVES: Growth factor receptor bound protein 7 (GRB7) is a multidomain signaling adaptor. Members of the Grb7/10/14 family, specifically Gbrb10/14, have important roles in metabolism. We ablated the Grb7 gene in mice to examine its metabolic function. METHODS: Global ablation of Grb7 in FVB/NJ mice was generated. Growth, organ weight, food intake, and glucose homeostasis were measured. Insulin signaling was examined by Western blotting. Fat and lean body mass was measured by nuclear magnetic resonance, and body composition after fasting or high-fat diet was assessed. Energy expenditure was measured by indirect calorimetry. Expression of adiposity and lipid metabolism genes was measured by quantitative PCR. RESULTS: Grb7-null mice were viable, fertile, and without obvious phenotype. Grb7 ablation improved glycemic control and displayed sensitization to insulin signaling in the liver. Grb7-null females but not males had increased gonadal white adipose tissue mass. Following a 12-week high-fat diet, Grb7-null female mice gained fat body mass and developed relative insulin resistance. With fasting, there was less decrease in fat body mass in Grb7-null female mice. Female mice with Grb7 ablation had increased baseline food intake, less energy expenditure, and displayed a decrease in the expression of lipolysis and adipose browning genes in gonadal white adipose tissue by transcript and protein analysis. CONCLUSION: Our study suggests that Grb7 is a negative regulator of glycemic control. Our results reveal a role for Grb7 in female mice in the regulation of the visceral adipose tissue mass, a powerful predictor of metabolic dysfunction in obesity.


Abdominal Fat , Energy Metabolism , GRB7 Adaptor Protein , Insulin , Mice, Knockout , Signal Transduction , Animals , Female , Male , Mice , Abdominal Fat/metabolism , Blood Glucose/metabolism , Body Composition/genetics , Diet, High-Fat , Energy Metabolism/genetics , GRB7 Adaptor Protein/genetics , GRB7 Adaptor Protein/metabolism , Insulin/metabolism , Insulin Resistance/genetics
6.
Sci Rep ; 14(1): 7270, 2024 03 27.
Article En | MEDLINE | ID: mdl-38538606

Cancer risk is associated with the widely debated measure body mass index (BMI). Fat mass and fat-free mass measurements from bioelectrical impedance may further clarify this association. The UK Biobank is a rare resource in which bioelectrical impedance and BMI data was collected on ~ 500,000 individuals. Using this dataset, a comprehensive analysis using regression, principal component and genome-wide genetic association, provided multiple levels of evidence that increasing whole body fat (WBFM) and fat-free mass (WBFFM) are both associated with increased post-menopausal breast cancer risk, and colorectal cancer risk in men. WBFM was inversely associated with prostate cancer. We also identified rs615029[T] and rs1485995[G] as associated in independent analyses with both PMBC (p = 1.56E-17 and 1.78E-11) and WBFFM (p = 2.88E-08 and 8.24E-12), highlighting splice variants of the intriguing long non-coding RNA CUPID1 (LINC01488) as a potential link between PMBC risk and fat-free mass.


Body Composition , Neoplasms , Male , Humans , Body Composition/genetics , Body Mass Index , Genetic Predisposition to Disease , Neoplasms/etiology , Neoplasms/genetics , Electric Impedance
7.
J Anim Sci ; 1022024 Jan 03.
Article En | MEDLINE | ID: mdl-38489760

Beef × dairy crossbred cattle (n = 615) were used to evaluate the effect of preharvest indicator traits and genotypes on the accuracy of estimated breeding values (EBVs) of seedstock candidates for selection. Genotypes for 100,000 single nucleotide polymorphisms were provided by the American Simmental Association of purebred and crossbred seedstock animals (n = 2,632). Five hundred and ninety-five of the 615 beef × dairy cattle had carcass camera and ultrasound data. Phenotypes were not used for any of the seedstock animals even though some may have had performance and ultrasound data. We estimated the genomic relationship matrix among 3,247 animals including both phenotyped and unphenotyped animals. We computed genetic parameters among 37 traits using 666 bivariate restricted maximum likelihood analyses. The accuracy of EBV depends on heritability. For the sake of brevity, we report accuracy for marbling as a proxy for other traits with similar heritability. We focus on accuracy for marbling because marbling is the primary determinant of carcass value. We computed EBV for all 3,247 animals for marbling based on camera data postharvest using best linear unbiased prediction. We report evidence of overlap in causative genes among postharvest carcass traits; marbling, ribeye area, yield grade, fat thickness, and hot carcass weight (HCW) based on genetic correlations. Genetic correlations range from -0.73 to 0.89. Several live animal traits (frame size, body weight and ultrasound fat thickness and ribeye area) were genetically correlated with postharvest traits; including HCW, ribeye area, yield grade, fat thickness, and marbling. Genetic correlations between pre- and postharvest traits ranged from -0.53 to 0.95. Accuracy for marbling ranged from 0.64 to 0.80 for animals with marbling recorded, and from 0.09 to 0.60 for animals without marbling recorded. The accuracy of animals without phenotypes was related to the genomic relationship between animals with phenotype and those without. Live animal traits were useful for predicting economically important carcass traits based on genetic correlations. The accuracy of EBV for seedstock animals that were not phenotyped was low, but this is consistent with theory, and accuracy is expected to increase with the addition of genotypes and carcass data from beef × dairy animals.


Low-cost genotyping platforms and sexed-semen have enabled the production of high breeding value dairy replacement heifers from a fraction of the herd representing the most elite cows. The remainder of the cow herd can be bred to beef bulls using male-sexed-semen. Camera carcass data postharvest and ultrasound carcass estimates preharvest (live animals) on beef × dairy animals combined with genotypes and ultrasound on seedstock animals may provide an efficient scheme for selecting beef bulls to mate to dairy cows in the future to maximize carcass value of the progeny. Genotypes are needed to link carcass data from previously harvested to seedstock bull selection candidates because pedigree is typically not available for beef × dairy cattle. We report that live animal ultrasound carcass estimates are predictive of postharvest economically important carcass traits. The accuracy of genetic evaluation of selection candidates without recorded carcass traits was low but is expected to increase with more genotypes and phenotypes on beef × dairy cattle. Genotypes, ultrasound estimates, and camera carcass data on thousands of beef × dairy cattle could enable increased accuracy of selection with periodic infusion of new phenotypes from future generations.


Body Composition , Meat , Female , Cattle/genetics , Animals , Male , Body Composition/genetics , Meat/analysis , Phenotype , Genotype , Genome
8.
An Acad Bras Cienc ; 96(1): e20230010, 2024.
Article En | MEDLINE | ID: mdl-38451594

Growth and carcass traits are essential selection criteria for beef cattle breeding programs. However, it is necessary to combine these measurements with body composition traits to meet the demand of the consumer market. This study aimed to estimate the genetic parameters for visual scores, growth (pre and post-weaning weights), and carcass (rib eye area (REA), back and rump fat thickness) traits in Nellore cattle using Bayesian inference. Data from 12,060 animals belonging to the HoRa Hofig Ramos herd were used. Morphological traits were evaluated by the MERCOS methodology. The heritability estimates obtained ranged from low to high magnitude, from 0.15 to 0.28 for visual scores, 0.13 to 0.44 for growth, and from 0.42 to 0.46 for carcass traits. Genetic correlations between visual scores and growth traits were generally of moderate to high magnitudes, however, visual scores showed low correlations with carcass traits, except between sacral bone and structure and REA. Selection for visual score traits can lead to favorable responses in body weight and vice versa, but the same is not true for carcass traits. Morphological categorical traits can be used as complementary tools that add value to selection.


Body Composition , Cattle/genetics , Animals , Bayes Theorem , Body Weight/genetics , Body Composition/genetics , Phenotype
9.
Nutr Metab Cardiovasc Dis ; 34(6): 1361-1370, 2024 Jun.
Article En | MEDLINE | ID: mdl-38403485

BACKGROUND AND AIM: The relationship between appendicular lean mass (ALM) and most cardiovascular events has been established, but the direct association between ALM and atrial fibrillation (AF) remains uncertain. METHODS AND RESULTS: Herein, we identified 494 single-nucleotide polymorphisms (SNPs) strongly associated with ALM as instrumental variables (P < 5E-8) based on a genome-wide association study (GWAS) with 450,243 European participants. Then, we employed five Mendelian randomization (MR) analysis methods to investigate the causal relationship between ALM and AF. All results indicated a causal relationship between ALM and AF, among Inverse variance weighted (P = 8.44E-15, odds ratio [OR]: 1.16, 95 % confidence interval [CI]: 1.114-1.198). Furthermore, we performed a sensitivity analysis, which revealed no evidence of pleiotropy (egger_intercept = 0.000089, P = 0.965) or heterogeneity (MR Egger, Q Value = 0.980; Inverse variance weighted, Q Value = 0.927). The leave-one-out method demonstrates that individual SNPs have no driven impact on the whole causal relationship. Multivariable MR analysis indicates that, after excluding the influence of hypertension and coronary heart disease, a causal relationship between ALM and AF still exists (P = 7.74E-40, OR 95 %CI: 1.389 (1.323-1.458)). Importantly, the Radial MR framework analysis and Robust Adjusted Profile Score (RAPS) further exhibit the robustness of this causal relationship. CONCLUSION: A strong association between ALM and AF was confirmed, and high ALM is a risk factor for AF.


Atrial Fibrillation , Genetic Predisposition to Disease , Genome-Wide Association Study , Mendelian Randomization Analysis , Phenotype , Polymorphism, Single Nucleotide , Humans , Atrial Fibrillation/genetics , Atrial Fibrillation/diagnosis , Atrial Fibrillation/epidemiology , Atrial Fibrillation/physiopathology , Risk Factors , Risk Assessment , Female , Male , Middle Aged , Body Composition/genetics , Adiposity/genetics , Aged
10.
Endocrinology ; 165(3)2024 Jan 16.
Article En | MEDLINE | ID: mdl-38301268

Androgenic actions of gonadal testosterone are thought to be a major mechanism promoting sex differences in body composition across the lifespan. However, this inference is based on studies of androgen receptor (AR) function in late adolescent or emerging adult rodents. Here we assess body composition and AR expression in skeletal muscle of rats at defined ages, comparing wild-type (WT) to transgenic human skeletal actin-driven AR overexpression (HSAAR) rats which overexpress AR in skeletal muscle. Male and female HSAAR and WT Sprague Dawley rats (N = 288) underwent dual-energy x-ray absorptiometry (DXA) scanning and tissue collection at postnatal day (PND) 1, 10, 21, 42, 70, 183, 243, and 365. Expected sex differences in body composition and muscle mass largely onset with puberty (PND-21), with no associated changes to skeletal muscle AR protein. In adulthood, HSAAR increased tibialis anterior (TA) and extensor digitorum longus mass in males, and reduced the expected gain in gonadal fat mass in both sexes. In WT rats, AR protein was reduced in soleus, but not TA, throughout life. Nonetheless, soleus AR protein expression was greater in male rats than female rats at all ages of sexual development, yet only at PND-70 in TA. Overall, despite muscle AR overexpression effects, results are inconsistent with major sex differences in body composition during sexual development being driven by changes in muscle AR, rather suggesting that changes in ligand promote sexual differentiation of body composition during pubertal timing. Nonetheless, increased skeletal muscle AR in adulthood can be sufficient to increase muscle mass in males, and reduce adipose in both sexes.


Longevity , Receptors, Androgen , Rats , Animals , Female , Male , Humans , Adolescent , Receptors, Androgen/metabolism , Rats, Sprague-Dawley , Androgens/metabolism , Muscle, Skeletal/metabolism , Body Composition/genetics
11.
BMC Genomics ; 25(1): 14, 2024 Jan 02.
Article En | MEDLINE | ID: mdl-38166730

BACKGROUND: Mapping expression quantitative trait loci (eQTLs) in skeletal muscle tissue in pigs is crucial for understanding the relationship between genetic variation and phenotypic expression of carcass traits in meat animals. Therefore, the primary objective of this study was to evaluate the impact of different sets of single nucleotide polymorphisms (SNP), including scenarios removing SNPs pruned for linkage disequilibrium (LD) and SNPs derived from SNP chip arrays and RNA-seq data from liver, brain, and skeletal muscle tissues, on the identification of eQTLs in the Longissimus lumborum tissue, associated with carcass and body composition traits in Large White pigs. The SNPs identified from muscle mRNA were combined with SNPs identified in the brain and liver tissue transcriptomes, as well as SNPs from the GGP Porcine 50 K SNP chip array. Cis- and trans-eQTLs were identified based on the skeletal muscle gene expression level, followed by functional genomic analyses and statistical associations with carcass and body composition traits in Large White pigs. RESULTS: The number of cis- and trans-eQTLs identified across different sets of SNPs (scenarios) ranged from 261 to 2,539 and from 29 to 13,721, respectively. Furthermore, 6,180 genes were modulated by eQTLs in at least one of the scenarios evaluated. The eQTLs identified were not significantly associated with carcass and body composition traits but were significantly enriched for many traits in the "Meat and Carcass" type QTL. The scenarios with the highest number of cis- (n = 304) and trans- (n = 5,993) modulated genes were the unpruned and LD-pruned SNP set scenarios identified from the muscle transcriptome. These genes include 84 transcription factor coding genes. CONCLUSIONS: After LD pruning, the set of SNPs identified based on the transcriptome of the skeletal muscle tissue of pigs resulted in the highest number of genes modulated by eQTLs. Most eQTLs are of the trans type and are associated with genes influencing complex traits in pigs, such as transcription factors and enhancers. Furthermore, the incorporation of SNPs from other genomic regions to the set of SNPs identified in the porcine skeletal muscle transcriptome contributed to the identification of eQTLs that had not been identified based on the porcine skeletal muscle transcriptome alone.


Polymorphism, Single Nucleotide , Quantitative Trait Loci , Swine/genetics , Animals , Phenotype , Muscle, Skeletal/metabolism , Genome-Wide Association Study , Body Composition/genetics
12.
Meat Sci ; 210: 109423, 2024 Apr.
Article En | MEDLINE | ID: mdl-38218007

This study evaluated carcass attributes, meat and belly qualities in finisher boars (n = 79) selected for feed efficiency (low, intermediate and high) based on estimated breeding value for feed conversion ratio within a Large White dam and sire genetic lines. The sire line had lower trimmed fat proportions and higher lean than the dam line (P < 0.01). Genetic lines expressed slight colour changes and drip losses (P < 0.05), with no differences in pH, marbling and cooking traits (P > 0.05). High-efficient animals presented the highest lean yield (P < 0.01), the lowest trimmed fat proportion (P < 0.01) and no effect on meat and belly quality attributes (P > 0.05) compared with other efficient groups. Interaction between efficiency group and genetic line was only detected for belly weight and thickness (P < 0.01). High-efficient animals offer a greater leanness level, with minimal impact on meat and belly quality traits.


Pork Meat , Red Meat , Swine/genetics , Animals , Male , Body Composition/genetics , Phenotype , Meat
13.
Mil Med ; 189(3-4): 486-492, 2024 Feb 27.
Article En | MEDLINE | ID: mdl-37384593

INTRODUCTION: Pilots of high-performance F15 and F16 jets must undergo periodic assessment of +8.5 Gz tolerance in a centrifuge, which is classified as a high-intensity exercise. Prior research has indicated that exercise performance may be correlated with alpha-actinin3 (ACTN3) and angiotensin-converting enzyme (ACE) genes, frequently termed the sports genes. This study aimed to investigate how ACTN3 and ACE genotypes correlate with high-g tolerance of Korean F15 and F16 pilots. MATERIALS AND METHODS: A total of 81 Korean F15 and F16 pilots (ages 25-39 years) volunteered to participate in human centrifuge testing at +8.5 Gz. Exercise tolerance was calculated as the mean breathing interval during high-g tests, the target gene genotypes (ACTN3 and ACE) were identified, and body composition measurements were measured. The relationship among the ACTN3 and ACE genotypes, high-g tolerance, and body compositions were evaluated. RESULTS: The ACTN3 genotypes identified included 23 RR (28.4%), 41 RX (50.6%), and 17 XX (21.0%). The ACE genotypes identified included 13 DD (16.0%), 39 DI (48.2%), and 29 II (35.8%). Both genes satisfied an equilibrium check. In multivariate analysis by Roy's max, the interaction of the target genes (ACTN3 and ACE) was significant (P < .05). The ACTN3 gene showed significance (P < .05), while ACE tended toward significance with a correlation of P = .057 with high-g tolerance(s). Body composition parameters including height, body weight, muscle mass, body mass index, body fat (%), and basal metabolic rate showed no significant correlation with either genotype. CONCLUSION: In a preliminary study, the RR ACTN3 genotype showed a significant correlation with +8.5 Gz tolerance. Pilots with the DI genotype showed the highest high-g tolerance in this test; however, the test pass rate was higher in pilots with the DD genotype in the preliminary study. This result shows the possibility of test passing and tolerance superiority consisting of two different factors in the relationship between high-g tolerance and ACE genotype. This study showed that pilots with the RR + DI genotype had the highest high-g tolerance, which correlated with the presence of the R and D alleles of the ACTN3 and ACE genes, respectively. However, body composition parameters were not significantly correlated with genotype. These results could suggest a plural gene effect on high-g tolerance; further follow-up is required to determine the practical usage and applications of these results.


Pilots , Sports , Humans , Genotype , Body Composition/genetics , Aircraft , Actinin/genetics
14.
J Diabetes Investig ; 15(3): 346-354, 2024 Mar.
Article En | MEDLINE | ID: mdl-38013660

OBJECTIVE: In this study, we employed a Mendelian randomization (MR) approach to investigate the independent causal associations of six body composition traits with gestational diabetes mellitus (GDM). METHODS: Genome-wide significant levels (P < 10 × 5-8 ) of single nucleotide polymorphisms associated with body water mass, total protein, whole body fat-free mass, weight, whole body fat mass, and body fat percentage were used as instrumental variables. Data on GDM were obtained from the FinnGen Consortium, and both univariable and multivariable Mendelian randomization were performed. We utilized five different analytical methods including inverse-variance weighted (IVW), MR Egger, weighted median, simple mode, and weighted mode to assess the robustness of the results. RESULTS: With univariable Mendelian randomization, the risk of GDM increased per 1-standard deviation (SD) increase in weight (ORweight = 1.297, P = 3.06 × 10-5 ), whole body fat mass (ORwhole body fat mass = 1.408, P = 1.32 × 10-6 ), and the risk of GDM increased per percent increase in body fat percentage (ORbody fat percentage = 1.661, P = 1.01 × 10-8 ). Total protein had a protective effect on the risk of GDM (ORtotal protein = 0.880, P = 0.048). However, there was no significant causal association between increases in body water mass and whole body fat-free mass per SD and the risk of GDM. Causal associations between weight, whole body fat mass, body fat percentage, and total protein with GDM were reduced to null in multivariable Mendelian randomization. CONCLUSION: The present study furnishes genetic evidence to elucidate the causal relationship between body composition traits and GDM. Additionally, further studies are imperative to establish a causal connection between body composition traits and gestational diabetes mellitus.


Diabetes, Gestational , Humans , Female , Pregnancy , Diabetes, Gestational/epidemiology , Diabetes, Gestational/genetics , Mendelian Randomization Analysis , Body Composition/genetics , Phenotype , Polymorphism, Single Nucleotide
15.
J Anim Breed Genet ; 141(2): 124-137, 2024 Mar.
Article En | MEDLINE | ID: mdl-37822282

Body composition traits are complex traits controlled by minor genes and, in hybrid populations, are impacted by additive and nonadditive effects. We aimed to identify candidate genes and increase the accuracy of genomic prediction of body composition traits in crossbred pigs by including dominance genetic effects. Genomic selection (GS) and genome-wide association studies were performed on seven body composition traits in 807 Yunong-black pigs using additive genomic models (AM) and additive-dominance genomic models (ADM) with an imputed high-density single nucleotide polymorphism (SNP) array and the Illumina Porcine SNP50 BeadChip. The results revealed that the additive heritabilities estimated for AM and ADM using the 50 K SNP data ranged from 0.20 to 0.34 and 0.11 to 0.30, respectively. However, the ranges of additive heritability for AM and ADM in the imputed data ranged from 0.20 to 0.36 and 0.12 to 0.30, respectively. The dominance variance accounted for 23% and 27% of the total variance for the 50 K and imputed data, respectively. The accuracy of genomic prediction improved by 5% on average for 50 K and imputed data when dominance effect were considered. Without the dominance effect, the accuracies for 50 K and imputed data were 0.35 and 0.38, respectively, and 0.41 and 0.43, respectively, upon considering it. A total of 12 significant SNP and 16 genomic regions were identified in the AM, and 14 significant SNP and 21 genomic regions were identified in the ADM for both the 50 K and imputed data. There were five overlapping SNP in the 50 K and imputed data. In the AM, a significant SNP (CNC10041568) was found in both body length and backfat thickness traits, which was in the PLAG1 gene strongly and significantly associated with body length and backfat thickness in pigs. Moreover, a significant SNP (CNC10031356) with a heterozygous dominant genotype was present in the ADM. Furthermore, several functionally related genes were associated with body composition traits, including MOS, RPS20, LYN, TGS1, TMEM68, XKR4, SEMA4D and ARNT2. These findings provide insights into molecular markers and GS breeding for the Yunong-black pigs.


Genome-Wide Association Study , Genome , Animals , Swine/genetics , Genome-Wide Association Study/veterinary , Genotype , Phenotype , Genomics/methods , Polymorphism, Single Nucleotide , Body Composition/genetics
16.
Anim Genet ; 55(1): 20-46, 2024 Feb.
Article En | MEDLINE | ID: mdl-38112204

Feed costs and carcass yields affect the profitability and sustainability of sheep production. Therefore, it is crucial to select animals with a higher feed efficiency and high-quality meat production. This study focuses on the impact of dietary and genetic factors on production traits such as feed efficiency, carcass quality, and meat quality. Diets promote optimal sheep growth and development and provide sufficient protein can lead to higher-quality meat. However, establishing an optimized production system requires careful consideration and balance of dietary parameters. This includes ensuring adequate protein intake and feeding diets with higher intestinal absorption rates to enhance nutrient absorption in the gut. The study identifies specific genes, such as Callipyge, Calpastatin, and Myostatin, and the presence of causal mutations in these genes, as factors influencing animal growth rates, feed efficiency, and meat fatty acid profiles. Additionally, variants of other reported genes, including PIGY, UCP1, MEF2B, TNNC2, FABP4, SCD, FASN, ADCY8, ME1, CA1, GLIS1, IL1RAPL1, SOX5, SOX6, and IGF1, show potential as markers for sheep selection. A meta-analysis of reported heritability estimates reveals that residual feed intake (0.27 ± 0.07), hot carcass weight (0.26 ± 0.05), dressing percentage (0.23 ± 0.05), and intramuscular fat content (0.45 ± 0.04) are moderately to highly heritable traits. This suggests that these traits are less influenced by environmental factors and could be improved through genetic selection. Additionally, positive genetic correlations exist between body weight and hot carcass weight (0.91 ± 0.06), dressing percentage (0.35 ± 0.15), and shear force (0.27 ± 0.24), indicating that selecting for higher body weight could lead to favorable changes in carcass quality, and meat quality.


Diet , Meat , Animals , Sheep/genetics , Diet/veterinary , Eating/genetics , Phenotype , Body Weight , Animal Feed , Body Composition/genetics
17.
Front Endocrinol (Lausanne) ; 14: 1277393, 2023.
Article En | MEDLINE | ID: mdl-38089610

Background: Testosterone is an essential sex hormone that plays a vital role in the overall health and development of males. It is well known that obesity decreases testosterone levels, but it is difficult to determine the causal relationship between body composition and testosterone. Methods: To investigate potential causal associations between body composition and testosterone levels by a first time application of Mendelian randomization methods. Exposure variables in men included body composition (fat mass, fat-free mass, and body mass index). In addition to whole body fat and fat-free mass, we examined fat and fat-free mass for each body part (e.g., trunk, left arm, right arm, left leg and right leg) as exposures. Instrumental variables were defined using genome-wide association study data from the UK Biobank. Outcome variables in men included testosterone levels (total testosterone [TT], bioavailable testosterone [BT], and sex hormone-binding globulin [SHBG]). A one-sample Mendelian randomization analysis of inverse-variance weighted and weighted median was performed. Results: The number of genetic instruments for the 13 exposure traits related to body composition ranged from 156 to 540. Genetically predicted whole body fat mass was negatively associated with TT (ß=-0.24, P=5.2×10-33), BT (ß=-0.18, P=5.8×10-20) and SHBG (ß=-0.06, P=8.0×10-9). Genetically predicted whole body fat-free mass was negatively associated with BT (ß=-0.04, P=2.1×10-4), but not with TT and SHBG, after multiple testing corrections. When comparing the causal effect on testosterone levels, there was a consistent trend that the effect of fat mass was more potent than that of fat-free mass. There were no differences between body parts. Conclusion: These results show that reducing fat mass may increase testosterone levels.


Mendelian Randomization Analysis , Testosterone , Male , Humans , Genome-Wide Association Study , Body Composition/genetics , Gonadal Steroid Hormones
18.
PLoS One ; 18(11): e0294330, 2023.
Article En | MEDLINE | ID: mdl-37963137

BACKGROUND: Ageing is associated with changes in body composition including an overall reduction in muscle mass and a proportionate increase in fat mass. Sarcopenia is characterised by losses in both muscle mass and strength. Body composition and muscle strength are at least in part genetically determined, consequently polymorphisms in pathways important in muscle biology (e.g., the activin/myostatin signalling pathway) are hypothesised to contribute to the development of sarcopenia. METHODS: We compared regional body composition measured by DXA with genotypes for two polymorphisms (rs10783486, minor allele frequency (MAF) = 0.26 and rs2854464, MAF = 0.26) in the activin 1B receptor (ACVR1B) determined by PCR in a cross-sectional analysis of DNA from 110 older individuals with sarcopenia from the LACE trial. RESULTS: Neither muscle mass nor strength showed any significant associations with either genotype in this cohort. Initial analysis of rs10783486 showed that males with the AA/AG genotype were taller than GG males (174±7cm vs 170±5cm, p = 0.023) and had higher arm fat mass, (median higher by 15%, p = 0.008), and leg fat mass (median higher by 14%, p = 0.042). After correcting for height, arm fat mass remained significantly higher (median higher by 4% padj = 0.024). No associations (adjusted or unadjusted) were seen in females. Similar analysis of the rs2854464 allele showed a similar pattern with the presence of the minor allele (GG/AG) being associated with greater height (GG/AG = 174±7 cm vs AA = 170 ±5cm, p = 0.017) and greater arm fat mass (median higher by 16%, p = 0.023). Again, the difference in arm fat remained after correction for height. No similar associations were seen in females analysed alone. CONCLUSION: These data suggest that polymorphic variation in the ACVR1B locus could be associated with body composition in older males. The activin/myostatin pathway might offer a novel potential target to prevent fat accumulation in older individuals.


Sarcopenia , Male , Female , Humans , Aged , Sarcopenia/genetics , Myostatin , Activin Receptors , Cross-Sectional Studies , Body Composition/genetics , Activins/genetics , Muscle, Skeletal
19.
PLoS One ; 18(11): e0293819, 2023.
Article En | MEDLINE | ID: mdl-37943781

Genetic group, age at entry into confinement and at slaughter, are characteristics that have an important influence on lamb performance and carcass. The aim of this study was to evaluate the performance, carcass characteristics and non-carcass components from different genetic groups (Santa Inês and ½ Dorper x ½ Santa Inês) sheep, submitted to different feedlot entry and exit strategies. Were used 72 lambs males and castrated; 36 Santa Inês (SI) and 36 crossbred (Dorper x Santa Inês-DSI), with 6 months of average initial age. The groups were established in a completely randomized experimental design, in a 2x3x4 factorial arrangement, from the combination of genetic groups (GG), body weight at the beginning of confinement (WBC) and length of stay in confinement (LSC). The body weight classes at the beginning of confinement were: light (25 kg), intermediate (28 kg) and heavy (31 kg), for Santa Inês and crossbreeds, respectively. Slaughters were carried out every 28 days of confinement, in four LSC: 0, 28, 56 and 84 days. The GG did not influence performance, carcass and non-carcass component traits of lambs (p > 0.05). There was an effect of the WBC on the weights: final (FW), metabolic (MW), body at slaughter (BWS), empty body (EBW), hot carcass (HCY) and cold (CCW), loin, shoulder, leg musculature; loin eye area (LEA) and loin fat (p < 0.05). There was also an effect on LSC, for FW, average daily weight gain (ADG), MW, weight and yield of body components, weight of cuts and tissue ratio components of cuts (p < 0.05). In non-carcass components, effect on full and empty weight of: omasum, rumen-reticulum, small intestine; empty large intestine, liver and kidneys, paws and skin, and perirenal, pelvic and inguinal fat (p < 0.05). Interaction double effect on the tissue muscle/fat:bone ratio (MF:B) and for the full omasal component (p < 0.05). And triple interaction effect for ADG, full omasum and perirenal fat (p < 0.05). Weight at the beginning of confinement and confinement time are the characteristics that most influence performance, quantitative characteristics of carcass and non-carcass components. Regardless of the genetic group and age class, the animals reach the same weight after 84 days of confinement. Thus, the confinement of heavier lambs (31 kg) can be a profitable alternative, as they presented the highest weights for the most commercially valued cuts (shank and loin). The confinement strategy must adapt to market situations.


Body Composition , Red Meat , Male , Sheep/genetics , Animals , Body Composition/genetics , Weight Gain/genetics , Hybridization, Genetic , Phenotype
20.
J Anim Sci ; 1012023 Jan 03.
Article En | MEDLINE | ID: mdl-37971679

Beef genetics are used with increasing frequency on commercial dairies. Although use of beef genetics improves calf value, variability has been reported in beef × dairy calf phenotype for traits related to muscularity and carcass composition. The objective of this study was to characterize morphometric and compositional differences between beef, beef × dairy, and dairy-fed cattle. Tested treatment groups included Angus-sired straightbred beef steers and heifers (A × B; n = 45), Angus × Holstein crossbreds (A × H; n = 15), Angus × Jersey crossbreds (A × J; n = 16), and straightbred Holsteins (H, n = 16). Cattle were started on trial at mean BW of 302 ±â€…29.9 kg and then fed at 196 ±â€…3.4 d. Morphometric measures were recorded every 28 d during the finishing period, ultrasound measures were recorded every 56 d, and morphometric carcass measures were recorded upon slaughter. Muscle biopsies were collected from the longissimus thoracis of a subset of steers (n = 43) every 56 d. Strip loins were collected from carcasses (n = 78) for further evaluation. Frame size measured as hip height, hip width, and body length was greatest for H cattle (P < 0.05), and A × H cattle had greater hip height than A × J cattle (P < 0.05). Relative to BW as a percentage of mature size, ribeye area of all cattle increased at a decreasing rate (negative quadratic term: P < 0.01), and all ultrasound measures of fat depots increased at an increasing rate (positive quadratic term: P < 0.01). Although no difference was observed in muscle fiber area across the finishing period from the longissimus thoracis (P = 0.80), H cattle had a more oxidative muscle phenotype than A × B cattle (P < 0.05). Additionally, H cattle had the smallest area of longissimus lumborum in the posterior strip loin, greatest length-to-width ratio of longissimus lumborum in the posterior strip loin, and least round circumference relative to round length (P < 0.05). Beef genetics improved muscularity in portions of the carcass distal to the longissimus thoracis.


Divergent selection of beef and dairy breeds has caused differences in skeletal size and muscularity. When calves from dairy systems enter the beef supply chain, variability in mature size and carcass composition are introduced. The objective of this study was to characterize morphometric differences in cattle populations with different proportions of beef and dairy genetics. Body measurements confirmed differences in mature size of beef-type cattle, dairy-type cattle, and beef × dairy cattle; Holstein influence was associated with greater skeletal growth. With advancing maturity, the rate of muscle accretion decreased quadratically while the rate of fat accretion increased quadratically. Although muscularity across all cattle types was similar in the longissimus near the last rib, differences were observed in the posterior end of the strip loin, the forearm, and the round. Differences in mature size, muscularity, and steak dimensions were observed between beef-type cattle, dairy-type cattle, and beef × dairy cattle.


Body Composition , Muscle, Skeletal , Cattle/genetics , Animals , Female , Body Composition/genetics , Muscle, Skeletal/metabolism , Meat , Body Weight/genetics , Muscle Fibers, Skeletal
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