ABSTRACT
BACKGROUND: Single-nucleotide polymorphisms (SNPs) in fatty acid desaturase (FADS) genes may modify dietary fatty acid requirements and influence cardiometabolic health (CMH). OBJECTIVES: We evaluated the role of selected variants in maternal and offspring FADS genes on offspring CMH at the age of 11 y and assessed interactions of genotype with diet quality and prenatal docosahexaenoic acid (DHA) supplementation. METHODS: We used data from offspring (n = 203) born to females who participated in a randomized controlled trial of DHA supplementation (400 mg/d) from midgestation to delivery. We generated a metabolic syndrome (MetS) score from body mass index, high-density lipoprotein cholesterol, triglycerides, systolic blood pressure, and fasting glucose and identified 6 distinct haplotypes from 5 offspring FADS SNPs. Dietary n-6 (ω-6):n-3 fatty acid ratios were derived from 24-h recall data (n = 141). We used generalized linear models to test associations of offspring diet and FADS haplotypes with MetS score and interactions of maternal and offspring FADS SNP rs174602 with prenatal treatment group and dietary n-6:n-3 ratio on MetS score. RESULTS: Associations between FADS haplotypes and MetS score were null. Offspring SNP rs174602 did not modify the association of prenatal DHA supplementation with MetS score. Among children with TT or TC genotype for SNP rs174602 (n = 88), those in the highest n-6:n-3 ratio tertile (>8.61) had higher MetS score relative to the lowest tertile [<6.67) (Δ= 0.36; 95% confidence interval (CI): 0.03, 0.69]. Among children with CC genotype (n = 53), those in the highest n-6:n-3 ratio tertile had a lower MetS score relative to the lowest tertile (Δ= -0.23; 95% CI: -0.61, 0.16). CONCLUSIONS: There was evidence of an interaction of offspring FADS SNP rs174602 with current dietary polyunsaturated fatty acid intake, but not with prenatal DHA supplementation, on MetS score. Further studies may help to determine the utility of targeted supplementation strategies and dietary recommendations based on genetic profile.
Subject(s)
Dietary Supplements , Docosahexaenoic Acids , Fatty Acid Desaturases , Fatty Acids, Omega-3 , Fatty Acids, Omega-6 , Polymorphism, Single Nucleotide , Humans , Female , Docosahexaenoic Acids/administration & dosage , Fatty Acid Desaturases/genetics , Fatty Acid Desaturases/metabolism , Pregnancy , Mexico , Male , Child , Fatty Acids, Omega-3/administration & dosage , Fatty Acids, Omega-6/administration & dosage , Delta-5 Fatty Acid Desaturase , Metabolic Syndrome/genetics , Metabolic Syndrome/prevention & control , Adult , Diet , HaplotypesABSTRACT
ObjectiveTo establish a rapid method for evaluating the heterozygosity of Murraya paniculata germplasm materials and provide as a foundation for developing germplasm breeding and innovation measures for M. paniculata. MethodSingle nucleotide polymorphisms (SNPs) were screened from the genome resequencing data of 65 plants of M. paniculata. A self-written script was used to transform 20 SNPs into restriction fragment length polymorphism (RFLP) markers. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was employed to detect the 20 RFLP markers in 12 M. paniculata germplasm accessions, and the heterozygosity of M. paniculata germplasm accessions was calculated based on the number of enzyme-cutting bands at the 20 RFLP marker sites. Plink was used to calculate the whole genome heterozygosity of 12 M. paniculata germplasm accessions, and the results obtained with different methods were compared. ResultThere was no significant difference in the heterozygosity calculated by the PCR-RFLP method and the genome resequencing method. The PCR-RFLP and genome resequencing methods identified 8 and 9 germplasm accessions, respectively, with a heterozygosity level less than 30%. Seven germplasm accessions with heterozygosity less than 30.00% were calculated by both methods. ConclusionThe PCR-RFLP method established in this study for evaluating the heterozygosity of M. paniculata germplasm demonstrates the precision of 87.5% and the accuracy of 77.8%. This method serves as a reference for developing heterozygosity evaluation methods in other medicinal plant germplasm resources.
ABSTRACT
Abstract: Nutrigenomics, a rapidly evolving field that bridges genetics and nutrition, explores the intricate interactions between an individual's genetic makeup and how they respond to nutrients. At its core, this discipline focuses on investigating Single Nucleotide Polymorphisms (SNPs), the most common genetic variations, which significantly influence a person's physiological status, mood regulation, and sleep patterns, thus playing a pivotal role in a wide range of health out-comes. Through decoding their functional implications, researchers are able to uncover genetic factors that impact physical fitness, pain perception, and susceptibility to mood disorders and sleep disruptions. The integration of nutrigenomics into healthcare holds the promise of transformative interventions that cater to individual well-being. Notable studies shed light on the connection between SNPs and personalized responses to exercise, as well as vulnerability to mood disorders and sleep disturbances. Understanding the intricate interplay between genetics and nutrition informs targeted dietary approaches, molding individual health trajectories. As research advances, the convergence of genetics and nourishment is on the brink of reshaping healthcare, ushering in an era of personalized health management that enhances overall life quality. Nutrigenomics charts a path toward tailored nutritional strategies, fundamentally reshaping our approach to health preservation and preventive measures.
Subject(s)
Chiropractic , Nutrigenomics , Humans , Polymorphism, Single Nucleotide , Diet , ExerciseABSTRACT
The differences in cpDNA SNPs and InDels of 13 samples from single trees of different species or populations of oil-tea camellia in South China were examined in this study, and phylogenetic trees were reconstructed based on CDSs and non-CDSs of cpDNAs to research the evolutionary relationships among all samples. The SNPs of all samples included all kinds of substitutions, and the frequency of the transition from AT to GC was highest; meanwhile, the frequencies of all kinds of transversions differed among the samples, and the SNPs exhibited polymorphism. The SNPs were distributed in all the different functional regions of cpDNAs, and approximately half of all SNPs in exons led to missense mutations and the gain or loss of termination codons. There were no InDels in the exons of any cpDNA samples, except those retrieved from Camellia gigantocarpa, although this InDel did not lead to a frame shift. The InDels of all cpDNA samples were unevenly distributed in the intergenic region and upstream and downstream of genes. The genes, regions of the same gene, sites and mutation types in the same region related to the distributions of SNPs, and InDels were inconsistent among samples. The 13 samples were divided into 2 clades and 7 or 6 subclades, and the samples of species from the same sections of the Camellia genus did not belong to the same subclades. Meanwhile, the genetic relationship between the samples of Camellia vietnamensis and the undetermined species from Hainan Province or the population of C. gauchowensis in Xuwen was closer than that between C. vietnamensis and the population of C. gauchowensis in Luchuan, and the genetic relationship among C. osmantha, C. vietnamensis and C. gauchowensis was very close. In sum, SNPs and InDels in the different cpDNAs resulted in variable phenotypes among the different species or populations, and they could be developed into molecular markers for studies on species and population identification and phylogenetic relationships. The conclusion from the identification of undetermined species from Hainan Province and the phylogenetic relationships among 13 oil-tea camellia samples based on cpCDS and cpnon-CDS sequences were the same as those from the former report.
Subject(s)
Camellia , Genome, Chloroplast , Camellia/genetics , Phylogeny , Mutation , DNA, Chloroplast , TeaABSTRACT
BACKGROUND: Nonalcoholic fatty liver, or NAFLD, is the most common chronic liver ailment. It is characterized by excessive fat deposition in hepatocytes of individuals who consume little or no alcohol and are unaffected by specific liver damaging factors. It is also associated with extrahepatic manifestations such as chronic kidney disease, cardiovascular disease, and sleep apnea. The global burden of NAFLD is increasing at an alarming rate. However, no pharmacologically approved drugs against NAFLD are available owing to their complex pathophysiology. Genome-wide association studies have uncovered SNPs in the fat mass and obesity-associated gene (FTO) that are robustly associated with obesity and higher BMI. The prevalence of NAFLD increases in parallel with the increasing prevalence of obesity. Since FTO might play a crucial role in NAFLD development, the current study identified five potentially deleterious mutations from 383 ns-SNPs in the human FTO gene using various in silico tools. METHODS: This study aims to identify potentially deleterious nonsynonymous SNPs (ns-SNPs) employing various in silico tools. Additionally, molecular modeling approaches further studied the structural changes caused by identified SNPs. Moreover, molecular dynamics studies finally investigated the binding potentials of the phytochemicals resveratrol, rosmarinic acid, and capsaicin with different mutant forms of FTO. RESULTS: The current investigation has five potentially deleterious mutations from 383 ns-SNPs in the human FTO gene using various in silico tools. The present study identified five nsSNPs of the human gene FTO, Gly103Asp, Arg96Pro, Tyr295Cys, and Arg322Gln, with an apparent connection to the disease condition. Modulation of demethylation activity by phytomolecule scanning explains the hepatoprotective action of molecules. The current investigation also suggested that predicted mutations did not affect the binding ability of three polyphenols: rosamarinic acid, resveratrol, and capsaicin. CONCLUSION: This study showed that the predicted mutations in FTO did not affect the binding of three polyphenols. Thus, these three molecules can significantly aid drug development against FTO and NAFLD.
Subject(s)
Non-alcoholic Fatty Liver Disease , Humans , Non-alcoholic Fatty Liver Disease/drug therapy , Non-alcoholic Fatty Liver Disease/genetics , Non-alcoholic Fatty Liver Disease/metabolism , Polymorphism, Single Nucleotide/genetics , Resveratrol/pharmacology , Genome-Wide Association Study , Capsaicin/metabolism , Liver/metabolism , Obesity/drug therapy , Obesity/genetics , Obesity/metabolism , Alpha-Ketoglutarate-Dependent Dioxygenase FTO/geneticsABSTRACT
This study investigated the effect of different prenatal nutrition approaches in 126 pregnant Nellore cows on reproductive and nutrigenetic traits of the male offspring during the finishing phase. For that purpose, three nutritional treatments were used in these cows during pregnancy: PP - protein-energy supplementation in the final third, FP - protein-energy supplementation during the entire pregnancy, and NP - (control) only mineral supplementation. The male progeny (63 bulls; 665 ± 28 days of age) were evaluated for scrotal circumference, seminal traits, number of Sertoli cells and testicular area. We performed a genomic association (700 K SNPs) for scrotal circumference at this age. In addition, a functional enrichment was performed in search of significant metabolic pathways (P < 0.05) with inclusion of genes that are expressed in these genomic windows by the MetaCore software. With the exception of major sperm defects (P < 0.1), the other phenotypes showed no difference between prenatal treatments. We found genes and metabolic pathways (P < 0.05) that are associated with genomic windows (genetic variance explained >1%) in different treatments. These molecular findings indicate that there is genotype-environment interaction among the different prenatal treatments and that the FP treatment showed greater major sperm defects compared to the NP treatment.
Subject(s)
Nutrigenomics , Semen , Male , Female , Pregnancy , Cattle , Animals , Reproduction , Polymorphism, Single Nucleotide , Dietary SupplementsABSTRACT
Experiments were performed to explore the impact of sulfur nanoparticles (SNPs) on growth, Cu accumulation, and physiological and biochemical responses of oilseed rape (Brassica napus L.) inoculated with 5 mg/L Cu-amended MS medium supplemented with or without 300 mg/L SNPs exposure. Cu exerted severe phytotoxicity and inhibited plant growth. SNPs application enhanced the shoot height, root length, and dry weight of shoot and root by 34.6%, 282%, 41.7% and 37.1%, respectively, over Cu treatment alone, while the shoot and root Cu contents and Cu-induced lipid perodixation as the malondialdehyde (MDA) levels in shoots and roots were decreased by 37.6%, 35%, 28.4% and 26.8%. Further, the increases in superoxide dismutase (SOD), peroxidase (POD), catalase (CAT), ascorbate peroxidase (APX), glutathione reductase (GR) and glutathione S-transferase (GST) enzyme activities caused by Cu stress were mitigated in shoots (10.9%-37.1%) and roots (14.6%-35.3%) with SNPs addition. SNPs also positively counteracted the negative effects on shoot K, Ca, P, Mg, Mn, Zn and Fe contents and root K, Ca, Mg and Mn contents from Cu exposure alone, and significantly promoted the nutrients accumulation in plant. Additionally, in comparison with common bulk sulfur particles (BSPs) and sulfate, SNPs showed more positive effects on promoting growth in shoots (6.7% and 19.5%) and roots (10.9% and 15.1%), as well as lowering the shoot Cu content (40.1% and 43.3%) under Cu stress. Thus, SNPs application has potential to be a green and sustainable technology for increasing plant productivity and reducing accumulation of toxic metals in heavy metal polluted soils.
Subject(s)
Brassica napus , Metals, Heavy , Nanoparticles , Antioxidants/metabolism , Ascorbate Peroxidases/metabolism , Brassica napus/metabolism , Catalase/metabolism , Glutathione Reductase/metabolism , Glutathione Reductase/pharmacology , Glutathione Transferase , Hydrogen Peroxide , Lipids/pharmacology , Malondialdehyde , Metals, Heavy/pharmacology , Oxidative Stress , Peroxidases , Plant Roots/metabolism , Soil , Sulfates , Sulfur , Superoxide Dismutase/metabolismABSTRACT
BACKGROUND: Evolutionary divergence and speciation often occur at a slower rate in the marine realm due to the higher potential for long-distance reproductive interaction through larval dispersal. One common evolutionary pattern in the Indo-Pacific, is divergence of populations and species at the peripheries of widely-distributed organisms. However, the evolutionary and demographic histories of such divergence are yet to be well understood. Here we address these issues by coupling genome-wide SNP data with mitochondrial DNA sequences to test the patterns of genetic divergence and possible secondary contact among geographically distant populations of the highly valuable spiny lobster Panulirus homarus species complex, distributed widely through the Indo-Pacific, from South Africa to the Marquesas Islands. RESULT: After stringent filtering, 2020 SNPs were used for population genetic and demographic analyses, revealing strong regional structure (FST = 0.148, P < 0001), superficially in accordance with previous analyses. However, detailed demographic analyses supported a much more complex evolutionary history of these populations, including a hybrid origin of a North-West Indian Ocean (NWIO) population, which has previously been discriminated morphologically, but not genetically. The best-supported demographic models suggested that the current genetic relationships among populations were due to a complex series of past divergences followed by asymmetric migration in more recent times. CONCLUSION: Overall, this study suggests that alternating periods of marine divergence and gene flow have driven the current genetic patterns observed in this lobster and may help explain the observed wider patterns of marine species diversity in the Indo-Pacific.
Subject(s)
Palinuridae , Animals , Palinuridae/genetics , Nephropidae/genetics , Polymorphism, Single Nucleotide , Genome , Gene Flow , DNA, Mitochondrial/genetics , Phylogeny , Genetic VariationABSTRACT
The single nucleotide polymorphisms (SNPs) rs3808607, rs2072183, rs2032582, and rs1761667 are associated with coenzyme Q10 (CoQ10) bioavailability in women after long-term CoQ10 supplementation. However, the beneficial aspects of the association between these SNPs and CoQ10 supplementation remain unknown. We investigated their relationship using the subjective quality of life score SF-36 by reanalyzing previous data from 92 study participants who were receiving ubiquinol (a reduced form of CoQ10) supplementation for 1 year. Two-way repeated-measures analysis of variance revealed a significant interaction between rs1761667 and the SF-36 scores of role physical (p = 0.016) and mental health (p = 0.017) in women. Subgrouping of participants based on the above four SNPs revealed significant interactions between these SNPs and the SF-36 scores of general health (p = 0.045), role emotional (p = 0.008), and mental health (p = 0.019) and increased serum CoQ10 levels (p = 0.008), suggesting that the benefits of CoQ10 supplementation, especially in terms of psychological parameters, are genotype-dependent in women. However, significant interactions were not observed in men. Therefore, inclusion of SNP subgrouping information in clinical trials of CoQ10 supplementation may provide conclusive evidence supporting other beneficial health effects exerted by the association between these SNPs and CoQ10 on women.
Subject(s)
Quality of Life , Ubiquinone , ATP Binding Cassette Transporter, Subfamily B , Antioxidants , Biological Availability , Cholesterol 7-alpha-Hydroxylase , Dietary Supplements , Female , Humans , Male , Membrane Transport ProteinsABSTRACT
Phosphorus (P) deficiency is one of the major limitations for soybean production. Moreover, it has been well reported P and other mineral elements function interdependently or antagonistically to control nutrients homeostasis in plants. Thus, it is urgently needed to understand the genetic mechanism of the accumulation of mineral elements in response to low-P stress. In this study, to identify single nucleotide polymorphisms (SNPs) and candidate genes controlling the accumulation of mineral elements suffering low-P stress in seedling stage of soybean plants, we measured concentrations of mineral elements, including P, Zn, Fe, Mn, Mg and Ca, in shoots of 211 soybean accessions under normal phosphorus (+P) and low phosphorus (-P) conditions in two hydroponic experiments. And genome-wide association study (GWAS) using high density NJAU 355K SoySNP array and concentrations of five of these mineral elements except P was performed. A total of 36 SNPs distributed on 13 chromosomes were identified to be significantly associated with low-P tolerance, and nine SNPs on chromosome 10 formed a SNP cluster. Meanwhile, the candidate gene GmFeB1 was found to serve as a negative regulator element involved in soybean P metabolism and the haplotype1 (Hap1) of GmFeB1 showed significantly higher shoot Fe concentration under -P condition than that of Hap2. In summary, we uncover 36 SNPs significantly associated with shoot mineral elements concentrations under different P conditions and a soybean low-P related gene GmFeB1, which will provide additional genetic information for soybean low-P tolerance and new gene resources for P-efficient soybean varieties breeding.
Subject(s)
Genome-Wide Association Study , Glycine max , Minerals , Phosphorus , Plant Breeding , Polymorphism, Single Nucleotide , Glycine max/geneticsABSTRACT
BACKGROUND: In 2013, the group of Cicero Coimbra, Brazil, reported the clinical efficacy of high doses of vitamin D3 in patients suffering from autoimmune skin disorders ("Coimbra protocol", CP). However, hypercalcemia and the subsequent impaired renal function may be major concerns raised against this protocol. METHODS: We report for the first time for a broad spectrum of autoimmune diseases in 319 patients (mean age (±SD) 43.3 ± 14.6 years, 65.5% female, 34.5% male) safety data for high doses of orally applied vitamin D3 (treatment period: up to 3.5 years) accompanied by a strict low-calcium diet and regular daily fluid intake of at least 2.5 L. RESULTS: Mean vitamin D3 dose was 35,291 ± 21,791 IU per day. The measurement of more than 6100 single relevant laboratory parameters showed all mean values (±SD) within the normal range for total serum calcium (2.4 ± 0.1 mmol/L), serum creatinine (0.8 ± 0.2 mg/dL), serum creatinine associated estimated GFR (92.5 ± 17.3 mL/min), serum cystatin C (0.88 ± 0.19 mg/L), serum TSH (1.8 ± 1 mIU/L), and for 24 h urinary calcium secretion (6.9 ± 3.3 mmol/24 h). We found a very weak relationship between the dosage of oral vitamin D3 and the subsequent calcium levels, both in serum and in urinary excretion over 24 h, respectively. CONCLUSIONS: Our data show the reliable safety of the CP in autoimmune patients under appropriate supervision by experienced physicians.
Subject(s)
Autoimmune Diseases , Cholecalciferol , Vitamin D , Adult , Autoimmune Diseases/chemically induced , Autoimmune Diseases/drug therapy , Brazil , Calcium/metabolism , Cholecalciferol/adverse effects , Cholecalciferol/therapeutic use , Creatinine , Female , Humans , Male , Middle Aged , Parathyroid Hormone , Vitamin D/therapeutic useABSTRACT
BACKGROUND: Onion is an economically important vegetable cultivated worldwide on a large scale. Liberal exchange of germplasm and frequent selection caused narrow genetic diversity in most crops, including onion. Thus, it is essential to estimate and understand genetic diversity before launching of any breeding program. The current study was conducted to explore genetic diversity among 39 short-day onion genotypes (indigenous and exotic). METHODS AND RESULTS: All the genotypes were evaluated for various phenotypic traits by using single nucleotide polymorphism (SNP) genotyping based on KASPar assays. Principal component analysis (PCA) was performed to determine the variability among genotypes. The four principal components with eigenvalue greater than 1 accounted for 67.5656% variability for quantitative traits, whereas first five principal components with eigenvalue greater than 0.7 accounted for 86.24% variation among the genotypes for qualitative traits. The principal component analysis identified diverse traits including bulb weight, bulb diameter, plant height, number of survived plants and vitamin C. These traits were further analyzed through ANOVA (Analysis of Variance) following augmented block design to describe genotypic variability for selected traits. Onion genotypes showed significant variation for bulb weight, bulb diameter and Vitamin C. Genotypic clustering based on PCA showed that 15 indigenous genotypes were clustered with exotic genotypes (14) while remaining indigenous genotypes (10) were distant. A total of 30 SNPs were used for assessment of genetic diversity out of these, 24 SNPs were detected with polymorphic loci (0.8%, heterozygosity), while only six markers were with monomorphic sites (0.2% heterozygosity). Subsequently, population structure analysis revealed three different populations indicating significant variability. CONCLUSION: Conclusively, a significant similarity between exotic and a group of indigenous genotypes indicates direct adoption of exotic genotypes or their sister lines. A further broadening of the genetic base is required and could be done by crossing distant genotypes.
Subject(s)
Onions , Polymorphism, Single Nucleotide , Ascorbic Acid , Genetic Variation/genetics , Genotype , Onions/genetics , Plant Breeding , Polymorphism, Single Nucleotide/geneticsABSTRACT
The Brassicaceae family comprises more than 3,700 species with a diversity of phenotypic characteristics, including seed oil content and composition. Recently, the global interest in Thlaspi arvense L. (pennycress) has grown as the seed oil composition makes it a suitable source for biodiesel and aviation fuel production. However, many wild traits of this species need to be domesticated to make pennycress ideal for cultivation. Molecular breeding and engineering efforts require the availability of an accurate genome sequence of the species. Here, we describe pennycress genome annotation improvements, using a combination of long- and short-read transcriptome data obtained from RNA derived from embryos of 22 accessions, in addition to public genome and gene expression information. Our analysis identified 27,213 protein-coding genes, as well as on average 6,188 biallelic SNPs. In addition, we used the identified SNPs to evaluate the population structure of our accessions. The data from this analysis support that the accession Ames 32872, originally from Armenia, is highly divergent from the other accessions, while the accessions originating from Canada and the United States cluster together. When we evaluated the likely signatures of natural selection from alternative SNPs, we found 7 candidate genes under likely recent positive selection. These genes are enriched with functions related to amino acid metabolism and lipid biosynthesis and highlight possible future targets for crop improvement efforts in pennycress.
Subject(s)
Thlaspi , Biofuels , Plant Oils/metabolism , Seeds/genetics , Thlaspi/genetics , Thlaspi/metabolism , TranscriptomeABSTRACT
Atractylodes lancea rhizomes are commonly consumed in east Asia as traditional medical herbs. However, in Korea, because of their morphological similarity, A. lancea rhizomes can be contaminated with those of Scopolia japonica imported from China. To detect adulteration with S. japonica in the complex products of A. lancea, we developed two PCR-based DNA markers, multiplex PCR and quantitative real-time PCR. The sensitivity of the multiplex PCR primer combinations and real-time PCR was confirmed with a series of DNA concentrations (0.01-10 ng/µL). The specificity of the developed PCR assays was confirmed with 14 other species. In addition, 14 commercial A. lancea medicinal herbs and 20 blind samples were tested with the developed PCR assays to demonstrate the reliability. Taken together, the developed multiplex and real-time PCR-based target-specific primer sets may be useful for detecting the target species and have the potential to contribute to food safety and consumer health care. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10068-021-01008-5.
ABSTRACT
OBJECTIVE: In this study, we evaluated the influence of taste phenotypes and genotypes on the hedonics of sweetened and unsweetened coffee. METHODS: Liking of espresso coffee from food questionnaire and of a ready-to-drink unsweetened coffee beverage was measured using a 9-point hedonic scale in 1551 Italian individuals. Perception and liking for different bitter and sweet compounds were also collected. Genotyping of selected Single Nucleotide Polymorphisms (SNPs) in five taste genes (TAS1R3, GNAT3, TAS2R14, TAS2R19, TAS2R38) was performed. Linear and logistic regression models, including sex and gender as covariates, were used to test the relationship of taste phenotypes and selected SNPs with coffee liking. RESULTS: We found that increased caffeine bitterness perception was associated with an increasing liking for sweetened coffee (p-value = 0.018) and decreased liking of unsweetened coffee (p-value = 0.034). The liking of unsweetened coffee beverage was also negatively associated with sweet intensity perception (p-value = 0.03). Analysis of SNPs in taste-related genes showed that rs6467192 G allele (intron 4 variant) in GNAT3 sweet taste gene was associated with higher liking of sweetened coffee (p-value = 0.002) and lower liking of unsweetened coffee (p-value = 0.01). An association also emerged between unsweetened coffee and SNPs in bitter receptor genes, with rs2597979 in TAS2R14 gene associated with liking of unsweetened coffee (p-value = 0.004) and rs10772420 in TAS2R19 gene associated with liking of both unsweetened espresso coffee and coffee beverage (p-value = 0.04 and p-value = 0.03, respectively). CONCLUSION: These findings suggested that individual preference for sweetened and unsweetened coffee may be influenced by both phenotypic and nucleotide variations in bitter and sweet taste sensitivity.
Subject(s)
Coffee , Taste , Food , Food Preferences , Humans , Taste/genetics , Taste Perception/geneticsABSTRACT
Adalimumab (ADA) is a human anti-tumor necrosis factor (TNF-α) monoclonal antibody used in inflammatory bowel diseases, such as Crohn's disease (CD). Vitamin-D (VD) is important for biological functions, such as the modulation of expression of genes encoding enzymes and transporters involved in drug metabolism and transport. ADA trough levels were associated with VD concentrations in patients with IBD, but no data are present in the literature concerning VD pathway-related gene single-nucleotide polymorphisms (SNPs) in affecting clinical outcomes. For this reason, the aim of this study was to evaluate the ability of VD-related genetics to predict clinical remission at 3 and 12 months in patients affected by CD treated with ADA. Patients affected by CD were included in this study. SNPs in CYP27B1, CYP24A1, GC, and VDR genes were analyzed through real-time PCR. A total of 63 patients were enrolled. Calprotectin, hemoglobin, and C-reactive protein levels were influenced by SNPs in VDR, CYP27B1, and GC genes. After 3 months of therapy, clinical remission was predicted by smoke, systemic steroids, and VDR BsmI, whereas at 12 months by GC 1296AA/AC and VD supplementation. This study reports the association between VD pathway-related genetics and ADA treatment. Further studies are needed to confirm these promising data.
ABSTRACT
With the recent developments in the field of nanotechnology, the biosynthesis of nanoparticles has increased tremendously. Silver nanoparticles (SNPs) are among the most synthesized nanoparticles and this extensive synthesis can elevate the amounts of SNPs in the environment, which, consequently, pose a serious threat to the ecosystem and can bring unwanted environmental effects. As plants are an important part of ecosystem, investigation of toxic effects of SNPs on plants is particularly interesting. This study evaluates the potential risk of SNPs interaction with plants. For this, seeds of Vigna radiata L. were screened in presence of SNPs (20 mgL-1) using the germination, growth, and biochemical parameters as a phototoxicity criterion. The 19.57 nm average-sized SNPs were synthesized via the biosynthesis method. These biosynthesized SNPs were then applied on two varieties of V. radiata (Azri and High cross 404) and found to have variety dependent toxic effects on seed germination, growth, and biochemical parameters. Seed germination, root length, shoot length, fresh weight, chlorophyll, carotenoid, sugar content, and total proteins were reduced by 20, 46, 50, 18, 55, 62, 82, and 67%, respectively, in High cross 404, when compared with control (distilled water). The variety Azri was less sensitive than the variety High cross 404. In conclusion, the results demonstrated that SNPs affect seed germination and seedling growth when internalized and accumulated in plants, revealing that SNPs were responsible for the side effects. More in-depth research is required, in the form of different concentrations of SNPs or different plant species, to draw a logical conclusion and develop legislation about the safe use of biosynthesized SNPs. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12298-021-01073-4.
ABSTRACT
BACKGROUND: Although DHA (22:6n-3) is critical for fetal development, results from randomized controlled trials (RCTs) of prenatal DHA supplementation report inconsistent effects on offspring health. Variants in fatty acid desaturase (FADS) genes that regulate the conversion of n-3 and n-6 essential fatty acids into their biologically active derivatives may explain this heterogeneity. OBJECTIVES: We investigated the effect of prenatal DHA supplementation on the offspring metabolome at age 3 mo and explored differences by maternal FADS single-nucleotide polymorphism (SNP) rs174602. METHODS: Data were obtained from a double-blind RCT in Mexico [POSGRAD (Prenatal Omega-3 Fatty Acid Supplementation and Child Growth and Development)] in which women (18-35 y old) received DHA (400 mg/d) or placebo from mid-gestation until delivery. Using high-resolution MS with LC, untargeted metabolomics was performed on 112 offspring plasma samples. Discriminatory metabolic features were selected via linear regression (P < 0.05) with false discovery rate (FDR) correction (q = 0.2). Interaction by SNP rs174602 was assessed using 2-factor ANOVA. Stratified analyses were performed, where the study population was grouped into carriers (TT, TC; n = 70) and noncarriers (CC; n = 42) of the minor allele. Pathway enrichment analysis was performed with Mummichog (P < 0.05). RESULTS: After FDR correction, there were no differences in metabolic features between infants whose mothers received prenatal DHA (n = 58) and those whose mothers received placebo (n = 54). However, we identified 343 differentially expressed features in the interaction analysis after FDR correction. DHA supplementation positively enriched amino acid and aminosugars metabolism pathways and decreased fatty acid metabolism pathways among offspring of minor allele carriers and decreased metabolites within the tricarboxylic acid cycle and galactose metabolism pathways among offspring of noncarriers. CONCLUSIONS: Our findings demonstrate differences in infant metabolism in response to prenatal DHA supplementation by maternal SNP rs174602 and further support the need to incorporate genetic analysis of FADS polymorphisms into DHA supplementation trials.This trial was registered at clinicaltrials.gov as NCT00646360.
Subject(s)
Child Development , Docosahexaenoic Acids , Metabolome , Female , Humans , Infant , Pregnancy , Dietary Supplements , Double-Blind Method , Mexico , Mothers , Polymorphism, Single NucleotideABSTRACT
An association between vitamin D level and muscle-related traits has been frequently reported. Vitamin D level is dependent on various factors such as sunlight exposure and nutrition. But also on genetic factors. We, therefore, hypothesize that single nucleotide polymorphisms (SNPs) within the vitamin D pathway-related genes could contribute to muscle mass and function via an impact on vitamin D level. However, the integration of studies investigating these issues is still missing. Therefore, this review aimed to systematically identify and summarize the available evidence on the association between SNPs within vitamin D pathway-related genes and vitamin D status as well as various muscle traits in healthy adults. The review has been registered on PROSPERO and was conducted following PRISMA guidelines. In total, 77 studies investigating 497 SNPs in 13 different genes were included, with significant associations being reported for 59 different SNPs. Variations in GC, CYP2R1, VDR, and CYP24A1 genes were reported most frequently, whereby especially SNPs in the GC (rs2282679, rs4588, rs1155563, rs7041) and CYP2R1 genes (rs10741657, rs10766197, rs2060793) were confirmed to be associated with vitamin D level in more than 50% of the respective studies. Various muscle traits have been investigated only in relation to four different vitamin D receptor (VDR) polymorphisms (rs7975232, rs2228570, rs1544410, and rs731236). Interestingly, all of them showed only very low confirmation rates (6-17% of the studies). In conclusion, this systematic review presents one of the most comprehensive updates of the association of SNPs in vitamin D pathway-related genes with vitamin D status and muscle traits in healthy adults. It might be used for selecting candidate SNPs for further studies, but also for personalized strategies in identifying individuals at risk for vitamin D deficiency and eventually for determining a potential response to vitamin D supplementation.
Subject(s)
Muscles/metabolism , Polymorphism, Single Nucleotide/genetics , Receptors, Calcitriol/genetics , Vitamin D-Binding Protein/genetics , Vitamin D/blood , Adult , Aged , Aged, 80 and over , Cytochrome P450 Family 2/genetics , Cytochrome P450 Family 27/genetics , Female , Genotype , Humans , Male , Middle Aged , Nutritional Status , Oxidoreductases Acting on CH-CH Group Donors/genetics , Vitamin D Deficiency/blood , Vitamin D Deficiency/genetics , Young AdultABSTRACT
This systematic review assessed genotypes and changes in calcium homeostasis. A literature search was performed in EMBASE, Medline and CENTRAL on 7 August 2020 identifying 1012 references. Studies were included with any human population related to the topic of interest, and genetic variations in genes related to calcium metabolism were considered. Two reviewers independently screened references, extracted relevant data and assessed study quality using the Q-Genie tool. Forty-one studies investigating Single Nucleotide Polymorphisms (SNPs) in relation to calcium status were identified. Almost half of the included studies were of good study quality according to the Q-Genie tool. Seventeen studies were cross-sectional, 14 case-control, seven association and three were Mendelian randomization studies. Included studies were conducted in over 18 countries. Participants were mainly adults, while six studies included children and adolescents. Ethnicity was described in 31 studies and half of these included Caucasian participants. Twenty-six independent studies examined the association between calcium and polymorphism in the calcium-sensing receptor (CASR) gene. Five studies assessed the association between polymorphisms of the Vitamin D receptor (VDR) gene and changes in calcium levels or renal excretion. The remaining ten studies investigated calcium homeostasis and other gene polymorphisms such as the CYP24A1 SNP or CLDN14. This study identified several CASR, VDR and other gene SNPs associated with calcium status. However, to provide evidence to guide dietary recommendations, further research is needed to explore the association between common polymorphisms and calcium requirements.