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1.
Anim Sci J ; 94(1): e13840, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37248055

RESUMO

High piglet mortality constitutes a welfare challenge in organic pig production. Litter characteristics were investigated from parities 1-5 of two hyper-prolific hybrids with different selection traits in an organic commercial herd (DanBred vs. Topigs Norsvin [TN70]). TN70 sows had more functional teats than DanBred sows, and their offspring had higher birth weights. Several interactions between hybrid and parity were found. The total born increased with higher parity and was more pronounced for DanBred sows. Litter weight at weaning was higher in parities 1-4 for TN70 compared with DanBred, and within DanBred parities 4 and 5 had higher litter weight at weaning than parity 1. The survival rate was higher for TN70 in parities 1 and 2 compared with DanBred, and for both hybrids, the survival rate was higher in parities 1 and 2 compared with parities 4 and 5. The number of weaned piglets was stable across parities 1-4 but lower in parity 5 for both hybrids. Thus, despite a lower number of total born piglets in TN70, TN70 sows weaned the same number of piglets as DanBred, with a lower mortality rate and a heavier litter at weaning.


Assuntos
Peso ao Nascer , Tamanho da Ninhada de Vivíparos , Agricultura Orgânica , Paridade , Suínos , Animais , Feminino , Gravidez , Bem-Estar do Animal , Animais Recém-Nascidos , Peso ao Nascer/genética , Tamanho da Ninhada de Vivíparos/genética , Mortalidade , Paridade/genética , Suínos/genética , Suínos/fisiologia , Desmame
2.
Pathol Res Pract ; 218: 153328, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33422777

RESUMO

Although little is known regarding the mechanisms behind the onset of breast cancer (BC) through reproductive risk factors, new researches have highlighted some early tumor-related methylation footmarks in the breast tissue of apparently clinically healthy women as their potential epigenetic mechanism. Previous evidence supports that the estrogen receptor beta (ER-ß), whose anti-cancer roles had already been revealed in BC, is downregulated in the breasts of healthy nulliparous women. Nevertheless, data on such a link about its methylation alterations have not been reported. The goal of current study was to determine possible methylation alterations at CpG island promoter of the ER-ß gene, including promoter 0 N and exon 0 N, in relation to aspects of reproductive history in the healthy breasts. The DNA was extracted from the breasts of 120 subjects undergoing cosmetic mammoplasty. Thereafter, the methylation levels of targeted regions in ER-ß gene were determined by using MeDIP-qPCR assay. The results revealed that ER-ß exon 0 N had no methylation in 84.2 % of the women, whereas the rest, comprising 2.5 % and 13.3 % of the samples, showed a lower and higher of its methylation, respectively. Interestingly, nulliparous women were found to have an elevated methylation level of the ER-ß exon 0 N than parous women (P = 0.036). Moreover, we observed a high methylation of the ER-ß exon 0 N in the breasts of non-breastfeeding women compared to breastfeeding subgroup (P = 0.048). Likewise, the non-breastfeeding subgroup showed exon 0N high methylation in comparison to women with breastfeeding >24 months (P = 0.023). Finally, although we found that 6.67 % of the samples had a high methylation level at the promoter 0N, no any relationship was found between its methylation and reproductive history. These results may provide key clues to revealing the epigenetic mechanism through which the nulliparity and lack of breastfeeding influencing the risk factor of BC as well as introducing the potential new early prediction and prevention strategies. Although further investigations need to be done in order to gain a better understanding the roles of these epigenetic signatures.


Assuntos
Aleitamento Materno , Mama/metabolismo , Ilhas de CpG , Metilação de DNA , Epigênese Genética , Epigenoma , Receptor beta de Estrogênio/genética , Paridade/genética , Regiões Promotoras Genéticas , Adulto , Neoplasias da Mama/genética , Epigenômica , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Irã (Geográfico) , Pessoa de Meia-Idade , Gravidez , Medição de Risco , Fatores de Risco
3.
Prenat Diagn ; 41(5): 536-544, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-32895968

RESUMO

The birth prevalence of each common autosomal trisomy (21, 18 and 13) increases with advancing maternal age and this is the most important epidemiological risk factor. Prevalence during pregnancy is also dependent on gestational age. Other factors claimed to influence prevalence include paternal age, ethnicity, family history, premature reproductive aging, parity, twinning, smoking, environmental exposures, maternal medical conditions, and predispositions. We review the evidence for these associations since they may provide insights into causal mechanisms. When investigating potential co-factors it is important to adequately allow for maternal age and minimize its confounding contribution. This is well illustrated by reports of an inverse paternal age effect where there is strong correlation between parental ages. Gestational age at diagnosis, availability of prenatal screening, diagnostic testing, and elective termination of affected pregnancies and healthcare disparities also confound the studies on ethnicity, medical conditions, and predispositions or environmental factors. Data from twin zygosity studies demonstrate the importance of differences in fetal viability for affected pregnancies. We conclude that existing epidemiological evidence for most of the co-factors discussed should currently be considered tenuous; history of Down syndrome, albeit biased, may be an exception. The co-factors may yet provide clues to hitherto poorly understood causal pathways.


Assuntos
Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/etiologia , Adulto , Transtornos Cromossômicos/epidemiologia , Feminino , Idade Gestacional , Humanos , Paridade/genética , Paridade/fisiologia , Gravidez , Prevalência , Grupos Raciais/genética , Grupos Raciais/estatística & dados numéricos
4.
Hum Genet ; 140(2): 349-359, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32734383

RESUMO

In an effort to characterize the people who composed the groups known as the Xiongnu, nuclear and whole mitochondrial DNA data were generated from the skeletal remains of 52 individuals excavated from the Tamir Ulaan Khoshuu (TUK) cemetery in Central Mongolia. This burial site, attributed to the Xiongnu period, was used from the first century BC to the first century AD. Kinship analyses were conducted using autosomal and Y-chromosomal DNA markers along with complete sequences of the mitochondrial genome. These analyses suggested close kin relationships between many individuals. Nineteen such individuals composed a large family spanning five generations. Within this family, we determined that a woman was of especially high status; this is a novel insight into the structure and hierarchy of societies from the Xiongnu period. Moreover, our findings confirmed that the Xiongnu had a strongly admixed mitochondrial and Y-chromosome gene pools and revealed a significant western component in the Xiongnu group studied. Using a fine-scale approach (haplotype instead of haplogroup-level information), we propose Scytho-Siberians as ancestors of the Xiongnu and Huns as their descendants.


Assuntos
Povo Asiático/genética , Genoma Humano/genética , Paridade/genética , Adulto , Povo Asiático/história , Restos Mortais , Cemitérios/história , Criança , Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , DNA Mitocondrial/história , Família/história , Feminino , Marcadores Genéticos/genética , Genética Populacional/história , Genoma Mitocondrial/genética , Haplótipos/genética , História Antiga , Humanos , Masculino , Mongólia , Gravidez , Migrantes/história
5.
BMC Med ; 18(1): 210, 2020 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-32753059

RESUMO

BACKGROUND: Dementia shows sex difference in its epidemiology. Childbirth, a distinctive experience of women, is associated with the risk for various diseases. However, its association with the risk of dementia in women has rarely been studied. METHODS: We harmonized and pooled baseline data from 11 population-based cohorts from 11 countries over 3 continents, including 14,792 women aged 60 years or older. We investigated the association between parity and the risk of dementia using logistic regression models that adjusted for age, educational level, hypertension, diabetes mellitus, and cohort, with additional analyses by region and dementia subtype. RESULTS: Across all cohorts, grand multiparous (5 or more childbirths) women had a 47% greater risk of dementia than primiparous (1 childbirth) women (odds ratio [OR] = 1.47, 95% confidence interval [CI] = 1.10-1.94), while nulliparous (no childbirth) women and women with 2 to 4 childbirths showed a comparable dementia risk to primiparous women. However, there were differences associated with region and dementia subtype. Compared to women with 1 to 4 childbirths, grand multiparous women showed a higher risk of dementia in Europe (OR = 2.99, 95% CI = 1.38-6.47) and Latin America (OR = 1.49, 95% CI = 1.04-2.12), while nulliparous women showed a higher dementia risk in Asia (OR = 2.15, 95% CI = 1.33-3.47). Grand multiparity was associated with 6.9-fold higher risk of vascular dementia in Europe (OR = 6.86, 95% CI = 1.81-26.08), whereas nulliparity was associated with a higher risk of Alzheimer disease (OR = 1.91, 95% CI 1.07-3.39) and non-Alzheimer non-vascular dementia (OR = 3.47, 95% CI = 1.44-8.35) in Asia. CONCLUSION: Parity is associated with women's risk of dementia, though this is not uniform across regions and dementia subtypes.


Assuntos
Demência/etiologia , Paridade/genética , Estudos de Coortes , Demência/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Fatores de Risco
6.
Physiol Genomics ; 52(8): 347-357, 2020 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-32628084

RESUMO

Hyperketonemia (HYK) is a metabolic disorder that affects early postpartum dairy cows; however, there has been limited success in identifying genomic variants contributing to HYK susceptibility. We conducted a genome-wide association study (GWAS) using HYK phenotypes based on an intensive screening protocol, interrogated genotype interactions with parity group (GWIS), and evaluated the enrichment of annotated metabolic pathways. Holstein cows were enrolled into the experiment after parturition, and blood samples were collected at four timepoints between 5 and 18 days postpartum. Concentration of blood ß-hydroxybutyrate (BHB) was quantified cow-side via a handheld BHB meter. Cows were labeled as a HYK case when at least one blood sample had BHB ≥ 1.2 mmol/L, and all other cows were considered non-HYK controls. After quality control procedures, 1,710 cows and 58,699 genotypes were available for further analysis. The GWAS and GWIS were performed using the forward feature select linear mixed model method. There was evidence for an association between ARS-BFGL-NGS-91238 and HYK susceptibility, as well as parity-dependent associations to HYK for BovineHD0600024247 and BovineHD1400023753. Candidate genes annotated to these single nuclear polymorphism associations have been previously associated with obesity, diabetes, insulin resistance, and fatty liver in humans and rodent models. Enrichment analysis revealed focal adhesion and axon guidance as metabolic pathways contributing to HYK etiology, while genetic variation in pathways related to insulin secretion and sensitivity may affect HYK susceptibility in a parity-dependent matter. In conclusion, the present work proposes several novel marker associations and metabolic pathways contributing to genetic risk for HYK susceptibility.


Assuntos
Ácido 3-Hidroxibutírico/sangue , Doenças dos Bovinos/genética , Genes , Cetose/genética , Cetose/veterinária , Polimorfismo de Nucleotídeo Único , Animais , Bovinos , Doenças dos Bovinos/sangue , Feminino , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genótipo , Cetose/sangue , Lactação/sangue , Lactação/genética , Modelos Lineares , Redes e Vias Metabólicas/genética , Paridade/genética , Fenótipo , Período Pós-Parto , Gravidez
7.
Anim Sci J ; 91(1): e13417, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32662131

RESUMO

The performance of the two-trait animal model that regards the first parity and later parities as two different traits in estimating genetic parameters for number of born alive (NBA) was examined using real and simulated data. Genetic parameters for NBA were estimated in purebred Landrace and Large White pigs using a single-trait repeatability model (Model 1) that regards all parities as the same trait and a two-trait animal model (Model 2) that regards the first and the later parities as different traits. For Model 2, the permanent environmental effect was fitted to only the records of the later parities. Heritability for NBA estimated using Model 1 was 0.12 for Landrace and 0.11 for Large White. Estimated heritability for NBA of the first parity and the later parities was 0.21 and 0.16, respectively, for Landrace; 0.18 and 0.16, respectively, for Large White obtained using Model 2, and higher than those in both breeds obtained using Model 1. Further results based on data simulated using the Monte Carlo method suggest that estimated additive genetic variance could be more biased using Model 2 than Model 1.


Assuntos
Cruzamento/estatística & dados numéricos , Simulação por Computador , Tamanho da Ninhada de Vivíparos/genética , Modelos Animais , Modelos Genéticos , Paridade/genética , Parto/genética , Animais , Feminino , Método de Monte Carlo , Gravidez , Característica Quantitativa Herdável , Suínos
8.
Maturitas ; 137: 11-17, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32498931

RESUMO

Mutation of BRCA genes significantly increases the lifetime risk of breast, ovarian, fallopian tube and primary peritoneal cancers. In addition to the increased risk of these multiple malignancies, the recent literature suggests that mutations in BRCA genes may lead to decreased reproductive potential. In this systematic review, we focus on the effect of BRCA gene mutation on reproductive potential. The main outcomes included the rate of nulliparity, ovarian reserve, ovarian response, and the age at natural menopause. A total of 23 observational studies were included for quality analysis. The certainty of evidence was low to moderate: the main limitations were imprecision and statistically significant heterogeneity. Meta-analysis suggested that the rate of nulliparity, serum anti-müllerian hormone levels, antral follicle counts and ovarian response were not significantly affected in BRCA gene mutation carriers (P > 0.05). BRCA gene mutation carriers tended to have a lower number of primordial follicles (P = 0.0002) and lower age at natural menopause than non-carriers. In conclusion, there is no compelling evidence indicating that the rate of nulliparity, serum AMH, antral follicle counts and ovarian response are affected in BRCA mutation carriers.


Assuntos
Genes BRCA1 , Genes BRCA2 , Fenômenos Reprodutivos Fisiológicos/genética , Hormônio Antimülleriano/sangue , Feminino , Humanos , Menopausa/genética , Mutação , Folículo Ovariano , Reserva Ovariana/genética , Paridade/genética
10.
Nature ; 580(7805): 640-646, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32350471

RESUMO

All normal somatic cells are thought to acquire mutations, but understanding of the rates, patterns, causes and consequences of somatic mutations in normal cells is limited. The uterine endometrium adopts multiple physiological states over a lifetime and is lined by a gland-forming epithelium1,2. Here, using whole-genome sequencing, we show that normal human endometrial glands are clonal cell populations with total mutation burdens that increase at about 29 base substitutions per year and that are many-fold lower than those of endometrial cancers. Normal endometrial glands frequently carry 'driver' mutations in cancer genes, the burden of which increases with age and decreases with parity. Cell clones with drivers often originate during the first decades of life and subsequently progressively colonize the epithelial lining of the endometrium. Our results show that mutational landscapes differ markedly between normal tissues-perhaps shaped by differences in their structure and physiology-and indicate that the procession of neoplastic change that leads to endometrial cancer is initiated early in life.


Assuntos
Análise Mutacional de DNA , Endométrio/citologia , Endométrio/metabolismo , Epitélio/metabolismo , Saúde , Mutação , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Envelhecimento/genética , Carcinogênese/genética , Células Clonais/citologia , Neoplasias do Endométrio/genética , Endométrio/patologia , Células Epiteliais/citologia , Células Epiteliais/metabolismo , Células Epiteliais/patologia , Epitélio/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Paridade/genética , Fatores de Tempo , Adulto Jovem
11.
J Anim Breed Genet ; 137(4): 374-383, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32196784

RESUMO

In livestock, improving maternal reactivity towards the litter is an important issue in breeding strategies to promote production and animal welfare. As of yet, no studies have investigated the within-breed genetic variation of maternal reactivity in sheep. The objective of this study was to estimate the genetic parameters of maternal reactivity traits. A total of 1,095 primiparous and 1,441 multiparous Romane ewes were phenotyped 24 hr postlambing using a behavioural test (arena test, AT) over a 10-year experimental period. The test consisted of three successive phases evaluating the ewe's attraction to her litter, reactivity to separation from her litter, and reactivity to a conflict between attraction to her litter and avoidance of a motionless human. The ewes were reared exclusively on rangelands (South of France) and lambed outdoors in the spring. High-pitched bleating and low-pitched bleating in the AT were mostly highly heritable (0.39-0.46). Heritabilities were moderate for proximity to the litter in the presence of a human (0.27) and low for locomotion and vigilance in the AT (0.09-0.15). The measurements of a given behaviour in the three phases of the AT were highly genetically correlated. Few genetic correlations were found between the different behavioural traits in the AT, the highest correlations being between high-pitched bleating and low-pitched bleating (-0.43 to -0.77). In conclusion, our findings demonstrate moderate-to-high heritability for maternal reactivity traits. These traits could be included in genetic selection schemes to enhance maternal attachment provided there is no unfavourable link with other production traits.


Assuntos
Comportamento Materno/fisiologia , Característica Quantitativa Herdável , Carneiro Doméstico/genética , Criação de Animais Domésticos , Animais , Comportamento Animal/fisiologia , Cruzamento , Feminino , França , Humanos , Tamanho da Ninhada de Vivíparos/genética , Paridade/genética , Fenótipo , Gravidez , Carneiro Doméstico/fisiologia
12.
J Anim Breed Genet ; 137(6): 559-570, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31943440

RESUMO

The objective of this study was to obtain new phenotypes of phenotypic variability for the total number born (TNB) in pigs using the residual variance of TNB. The analysis was based on 246,799 Large White litter observations provided by Topigs Norsvin. Three animal models were used to obtain estimates of residual variance for TNB: the basic model (BM) containing fixed effects of farm-year and season and random effects of animal and permanent environmental sow, the basic model with an additional fixed effect of parity (BMP) and a random regression model (RRM). The within-individual variance of the residuals was calculated and log-transformed to obtain three new variability traits: LnVarBM, LnVarBMP and LnVarRRM. Then, (co)variance components, heritability, the genetic coefficient of variation at the standard deviation level (GCVSDe ) and genetic correlations between the three LnVar's and between the LnVar's and mean total number born (mTNB) were estimated with uni-, bi- and trivariate models. Results indicated that genetically LnVar's are the same trait and are positively correlated with the mTNB (~0.60). Thus, both traits should be included in breeding programmes to avoid an increase in TNB variability while selecting for increased TNB. Heritability of the LnVar's was estimated at 0.021. The GCVSDe for LnVar's showed that a change of 8% in residual standard deviation of TNB could be obtained per generation. Those results indicate that phenotypic variability of litter size is under genetic control, thus it may be improved by selection.


Assuntos
Variação Biológica da População/genética , Tamanho da Ninhada de Vivíparos/genética , Suínos/genética , Animais , Feminino , Paridade/genética , Parto/genética , Gravidez
13.
Eur J Obstet Gynecol Reprod Biol ; 245: 121-126, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31891895

RESUMO

OBJECTIVE: Recurrent miscarriage (RM) is a multifactorial condition that involves frequent uterine anatomical abnormalities, parental karyotype abnormalities, and clotting disorders. We investigate the potential roles of endometrium FoxP3+ Tregs and CD56+ cells (uNK cells) and endometrial expression of PGRMC1 in the development of recurrent miscarriage. STUDY DESIGN: This prospective study included 102 out of 286 cases of SA patients. The cases were divided into groups with RM (+RM) and without RM (-RM). Immunohistochemistry staining was made using primary antibodies to FoxP3, CD56, and PGRMC1 in both groups. Morphometry analyses were carried out in 10 non-overlapping high power fields. Mann-Whitney U test, Fisher two-tail test, correlation analysis and relative risk (RR) were evaluated. A p < 0.05 was considered statistically significant. RESULTS: An increased presence of CD56-positive (p < 0.001) and FoxP3+ Treg (p = 0.0005) cells was found in the endometrium, with a reduction in PGRMC1 expression compared with -RM group (p = 0.004). A positive correlation was shown between the number of CD56-positive cells and FoxP3+ cells (r = 0.55), and an inverse correlation with PGRMC1 (r =  -0.35) in the + RM group. A similar observation was found in the -RM group, with a positive correlation of uNK cell number with the number of pregnancies (p < 0.001; r = 0.34). Endometrial infiltration of CD56-positive (p < 0.0001) and FoxP3+ (p < 0.0001) cells revealed an increased relative risk of RM. This increased risk was also revealed in SA with a loss of PGRMC1 expression (p < 0.0001). CONCLUSION: Our prospective study suggests, for the first time, that increased endometrial infiltration of uNK, FoxP3+ Treg cells and a decreased PGRMC1 expression may play potential roles in the development of RM.


Assuntos
Aborto Habitual/genética , Antígeno CD56/metabolismo , Fatores de Transcrição Forkhead/metabolismo , Células Matadoras Naturais/metabolismo , Proteínas de Membrana/metabolismo , Receptores de Progesterona/metabolismo , Adulto , Endométrio/metabolismo , Feminino , Predisposição Genética para Doença/genética , Humanos , Paridade/genética , Gravidez , Estudos Prospectivos , República de Belarus , Linfócitos T Reguladores/metabolismo , Útero/citologia
14.
J Anim Breed Genet ; 137(3): 292-304, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31576624

RESUMO

The aim of this study was to identify genomic regions associated with 305-day milk yield and lactation curve parameters on primiparous (n = 9,910) and multiparous (n = 11,158) Holstein cows. The SNP solutions were estimated using a weighted single-step genomic BLUP approach and imputed high-density panel (777k) genotypes. The proportion of genetic variance explained by windows of 50 consecutive SNP (with an average of 165 Kb) was calculated, and regions that accounted for more than 0.50% of the variance were used to search for candidate genes. Estimated heritabilities were 0.37, 0.34, 0.17, 0.12, 0.30 and 0.19, respectively, for 305-day milk yield, peak yield, peak time, ramp, scale and decay for primiparous cows. Genetic correlations of 305-day milk yield with peak yield, peak time, ramp, scale and decay in primiparous cows were 0.99, 0.63, 0.20, 0.97 and -0.52, respectively. The results identified three windows on BTA14 associated with 305-day milk yield and the parameters of lactation curve in primi- and multiparous cows. Previously proposed candidate genes for milk yield supported by this work include GRINA, CYHR1, FOXH1, TONSL, PPP1R16A, ARHGAP39, MAF1, OPLAH and MROH1, whereas newly identified candidate genes are MIR2308, ZNF7, ZNF34, SLURP1, MAFA and KIFC2 (BTA14). The protein lipidation biological process term, which plays a key role in controlling protein localization and function, was identified as the most important term enriched by the identified genes.


Assuntos
Estudo de Associação Genômica Ampla , Lactação/genética , Leite , Paridade/genética , Animais , Bovinos , Indústria de Laticínios , Feminino , Genoma/genética , Genótipo , Lactação/fisiologia , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Gravidez
15.
Biomed Res Int ; 2019: 9581439, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31637259

RESUMO

Aim of this study is to analyze determinants of breech presentation using information from two regional databases of Lombardy (Italy) including data on consecutive singleton breech and vertex deliveries occurred in the Region, between January 2010 and December 2015. Breech presentation occurred in 3.8% of all single deliveries. Main determinants of breech presentation at birth were: gestational age and birth weight (the lower, the higher the incidence of breech presentation), maternal age (the older the mother, the higher the risk of breech presentation), parity (the frequency of breech decreased with increasing parity) and previous cesarean section. Breech presentation resulted more frequent after assisted reproduction procedures.


Assuntos
Apresentação Pélvica/epidemiologia , Parto Obstétrico , Paridade/fisiologia , Nascimento Prematuro/epidemiologia , Adulto , Peso ao Nascer , Apresentação Pélvica/patologia , Cesárea , Feminino , Idade Gestacional , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Itália/epidemiologia , Idade Materna , Paridade/genética , Gravidez , Nascimento Prematuro/patologia , Fatores de Risco
16.
Anim Sci J ; 90(12): 1497-1502, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31603600

RESUMO

Comparison of the multi-trait animal model and the traditional repeatability model was carried out using data obtained from 6,424 Landrace and 20,835 Yorkshire sows farrowed from January 2000 to April 2018 in order to estimate genetic parameters for litter traits at different parities. Specifically, records of the total number born (TNB), number born alive (NBA), total number of mortality (MORT), number of stillborn (NSB) and number of mummified pigs (MUM) were used. Although results showed the heterogeneity of heritability for litter traits at different parities, the mean heritability estimates from the multi-trait model were found to be higher than those of the repeatability model for all traits in both pig breeds. In terms of genetic correlation between parities, a slight difference in genetic control in the first parity was noted for TNB and NBA in Landrace and Yorkshire pigs. The correlation between the first parity and later parities ranged from 0.48 to 0.74 for TNB and NBA in both breeds. Moreover, genetic correlation between parities for MORT and NSB was observed to be high for parities higher than 2 in Yorkshire pigs. For MUM, genetic correlation between the first and other parities was generally low in both breeds, indicating that culling pigs on the basis of MUM at the first parity could probably be unreasonable. Overall, the results of this study suggest that the multi-trait approach for litter size traits is useful for the accurate estimation of genetic parameters.


Assuntos
Hereditariedade/genética , Paridade/genética , Suínos , Animais , Feminino , Desenvolvimento Fetal , Feto , Tamanho da Ninhada de Vivíparos/genética , Mortalidade , Fenótipo , Gravidez , Natimorto/genética
17.
Hum Reprod ; 34(10): 1965-1973, 2019 10 02.
Artigo em Inglês | MEDLINE | ID: mdl-31600381

RESUMO

STUDY QUESTION: Are reproductive characteristics associated with genome-wide DNA methylation and epigenetic age? SUMMARY ANSWER: Our data suggest that increasing parity is associated with differences in blood DNA methylation and small increases in epigenetic age. WHAT IS KNOWN ALREADY: A study of 397 young Filipino women (ages 20-22) observed increasing epigenetic age with an increasing number of pregnancies. STUDY DESIGN, SIZE, DURATION: We used data from 2356 non-Hispanic white women (ages 35-74) enrolled in the Sister Study cohort. PARTICIPANTS/MATERIALS, SETTING, METHODS: Data on reproductive history were ascertained via questionnaire. Of the 2356 women, 1897 (81%) reported at least one live birth. Among parous women, 487 (26%) women reported ever experiencing a pregnancy complication. Three epigenetic clocks (i.e. Hannum, Horvath and Levine) and genome-wide methylation were measured in DNA from whole blood using Illumina's HumanMethylation450 BeadChip. We estimated association ß-values and 95% CIs using linear regression. MAIN RESULTS AND THE ROLE OF CHANCE: All three epigenetic clocks showed weak associations between number of births and epigenetic age (per live birth; Hannum: ß = 0.16, 95% CI = 0.02, 0.29, P = 0.03; Horvath: ß = 0.12, 95% CI = -0.04, 0.27, P = 0.14; Levine: ß = 0.27, 95% CI = 0.08, 0.45, P = 0.01); however, additional adjustment for current BMI attenuated the associations. Among parous women, a history of abnormal glucose tolerance during pregnancy was associated with increased epigenetic age by the Hannum clock (ß = 0.96; 95% CI = 0.10, 1.81; P = 0.03) and Levine clocks (ß = 1.69; 95% CI = 0.54, 2.84; P < 0.01). In epigenome-wide analysis, increasing parity was associated with methylation differences at 17 CpG sites (Bonferroni corrected P≤ 1.0 × 10-7). LIMITATIONS, REASONS FOR CAUTION: We relied on retrospective recall to ascertain reproductive history and pregnancy complications. WIDER IMPLICATIONS OF THE FINDINGS: Our findings suggest that parity is associated with small increases in epigenetic age and with DNA methylation at multiple sites in the genome. STUDY FUNDING/COMPETING INTEREST(S): This research was supported by the Intramural Research program of the NIH, National Institute of Environmental Health Sciences (Z01-ES049033, Z01-ES049032 and Z01-ES044055). None of the authors have a conflict of interest. TRIAL REGISTRATION NUMBER: Not applicable.


Assuntos
Envelhecimento/genética , Metilação de DNA/fisiologia , Epigênese Genética/fisiologia , Paridade/genética , Complicações na Gravidez/epidemiologia , Adulto , Fatores Etários , Idoso , Índice de Massa Corporal , Feminino , Humanos , Nascido Vivo , Pessoa de Meia-Idade , Gravidez , Complicações na Gravidez/genética , Estudos Prospectivos , Porto Rico/epidemiologia , Estudos Retrospectivos , Inquéritos e Questionários/estatística & dados numéricos , Estados Unidos/epidemiologia
18.
BMC Cancer ; 19(1): 926, 2019 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-31533668

RESUMO

BACKGROUND: Reproductive characteristics are well-established risk factors for breast cancer, but the underlying mechanisms are not fully resolved. We hypothesized that altered DNA methylation, measured in tumor tissue, could act in concert with reproductive factors to impact breast carcinogenesis. METHODS: Among a population-based sample of women newly diagnosed with first primary breast cancer, reproductive history was assessed using a life-course calendar approach in an interviewer-administered questionnaire. Methylation-specific polymerase chain reaction and Methyl Light assays were used to assess gene promotor methylation status (methylated vs. unmethylated) for 13 breast cancer-related genes in archived breast tumor tissue. We used case-case unconditional logistic regression to estimate adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for associations with age at menarche and parity (among 855 women), and age at first birth and lactation (among a subset of 736 parous women) in association with methylation status. RESULTS: Age at first birth > 27 years, compared with < 23 years, was associated with lower odds of methylation of CDH1 (OR = 0.44, 95% CI = 0.20-0.99) and TWIST1 (OR = 0.48, 95% CI = 0.28-0.82), and higher odds of methylation of BRCA1 (OR = 1.63, 95% CI = 1.14-2.35). Any vs. no lactation was associated with higher odds of methylation of the PGR gene promoter (OR = 1.59, 95% CI = 1.01-2.49). No associations were noted for parity and methylation in any of the genes assayed. CONCLUSIONS: Our findings indicate that age at first birth, lactation and, perhaps age at menarche, are associated with gene promoter methylation in breast cancer, and should be confirmed in larger studies with robust gene coverage.


Assuntos
Neoplasias da Mama/genética , Metilação de DNA , Adulto , Idoso , Idoso de 80 Anos ou mais , Antígenos CD/genética , Proteína BRCA1/genética , Biomarcadores Tumorais , Neoplasias da Mama/patologia , Neoplasias da Mama/fisiopatologia , Caderinas/genética , DNA de Neoplasias/metabolismo , Feminino , Humanos , Lactação/genética , Menarca/genética , Pessoa de Meia-Idade , Proteínas Nucleares/genética , Paridade/genética , Gravidez , Regiões Promotoras Genéticas , Receptores de Progesterona/genética , Reprodução/genética , Fatores de Risco , Proteína 1 Relacionada a Twist/genética , Adulto Jovem
19.
J Dairy Sci ; 102(9): 8184-8196, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31279556

RESUMO

Genetic evaluation of female fertility in Danish, Finnish, and Swedish dairy cows was updated in 2015 to multiple-trait animal model evaluation, where heifer and cow fertility up to third parity are considered as separate traits. A model for conception rate was also developed, which required variance component estimation for Nordic Holstein and Nordic Red Dairy Cattle. We used a multiple-trait multiple-lactation sire model to determine variance components for interval from calving to first insemination, length of service period, and conception rate. Monte Carlo Expectation Maximization REML allowed estimation of all 11 traits simultaneously. Study data were sampled from Swedish Holstein (n = 140,040) and Red Dairy Cattle (n = 101,315) heifers and cows. Conception rate observations are binomial observations with various numbers of failures preceding an observation of success. Using a simulation study, we confirmed that including a service number effect into the conception rate model allowed us to model the change in expectation of successful AI with increasing number of services. Heifers outperformed cows in all fertility traits according to the phenotypic means in the records. Heritabilities for the traits varied from 3 to 7% for interval from calving to first insemination, from 1 to 5% for length of service period, and from 1 to 3% for conception rate. Genetic correlations within traits (i.e., between parities) were favorable, ranging from moderate to high; genetic correlations between heifer and cow traits were lower than between cow traits in different parities. Lowest genetic correlations between traits were for interval from calving to first insemination and conception rate, intermediate for interval from calving to first insemination and length of service period, and highest for length of service period and conception rate. The variance components estimated in this study have been used in Nordic fertility breeding value evaluations since 2016.


Assuntos
Bovinos/genética , Fertilidade/genética , Paridade/genética , Animais , Cruzamento , Bovinos/fisiologia , Indústria de Laticínios , Feminino , Fertilização/genética , Lactação , Modelos Estatísticos , Gravidez
20.
Anim Sci J ; 90(9): 1111-1119, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31270928

RESUMO

We estimated genetic parameters for number born alive (NBA) from the first to the seventh parities in Landrace and Large White pigs using three models. Analyzing 55,160 farrowing records for 12,677 Landrace dams and 43,839 for 10,405 Large White dams, we used a single-trait animal model to estimate the heritability of NBA at each parity and a two-trait animal model and a single-trait random regression model to estimate the genetic correlations between parities. Heritability estimates of NBA at each parity ranged from 0.08 to 0.13 for Landrace and from 0.05 to 0.16 for Large White. Estimated genetic correlations between parities in all cases were positive. Genetic correlations between the first and second parities were slightly lower than those between other neighboring parities. Genetic correlations between more distant parities tended to be lower, in some cases <0.8. The results indicate the necessity to investigate the applicability of evaluating NBA at different parities as different traits (e.g., the first and later parities), although a repeatability model might still be reasonable.


Assuntos
Tamanho da Ninhada de Vivíparos/genética , Paridade/genética , Suínos/fisiologia , Animais , Feminino , Modelos Estatísticos , Gravidez , Análise de Regressão , Suínos/genética
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