Association between single nucleotide polymorphisms in p53 and abortion in Thoroughbred mares

Leon, Priscila Marques Moura de; Campos, Vinícius Farias; Thurow, Helena Strelow; Hartwig, Fernando Pires; Selau, Lisiane Priscila Roldão; Dellagostin, Odir A.; Neto, José Braccini; Deschamps, João Carlos; Seixas, Fabiana Kömmling; Collares, Tiago

doi:10.1016/j.tvjl.2012.02.003

Cited by 6 publications

(4 citation statements)

References 9 publications

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“…Shilton et al found 21.8% of EPLs to be aneuploid with preliminary data suggesting this is a genetic variant introduced during meiosis (Rizzo et al, 2020) rather than a random event of early blastocyst development (Shilton et al, 2020). There are limited descriptions of genetic variants associated with abortion in the mare (de Leon et al, 2012;Dias et al, 2019;Aurich et al, 2019). Inherited single nucleotide polymorphisms (SNPs) in the procollagen-lysine, 2-oxyglutarate 5-dioxygenase 1 (PLOD1) gene can result in abortion and stillbirth, originally described in warmblood mares (Monthoux et al, 2015) but more recently also in a Thoroughbred (Grillos et al, 2021).…”

Section: Discussionmentioning

confidence: 99%

“…Inherited single nucleotide polymorphisms (SNPs) in the procollagen-lysine, 2-oxyglutarate 5-dioxygenase 1 (PLOD1) gene can result in abortion and stillbirth, originally described in warmblood mares (Monthoux et al, 2015) but more recently also in a Thoroughbred (Grillos et al, 2021). A missense SNP in p53 gene in Thoroughbred mares in Brazil has also been found to be associated with increased risk of abortion (de Leon et al, 2012). Based on the substantial increase in risk in repeat abortion mares, further work is warranted to identify other inherited genetic variants associated with abortion.…”

Section: Discussionmentioning

confidence: 99%

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Multivariable analysis to determine risk factors associated with abortion in mares

Roach

Sabogal

Smith

et al. 2022

Reproduction and Fertility

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Risk factors associated with equine reproductive efficiency have been identified along with those associated specifically with early pregnancy loss (EPL). In contrast, no studies have reported risk factors associated with abortion (loss between day 70 and 300 post-cover). Given the causes of abortion differ to those of EPL, likely too will the risk factors. A retrospective cohort study was carried out to identify risk factors associated with abortion in UK and Irish based Thoroughbreds, collecting data on 20 exposure variables over a five-year period. A generalized linear mixed model was utilized to evaluate the associations between exposure variables and abortion, with clustering of observations accounted for at the mare and farm level. Variables with a likelihood ratio test (LRT) p value <0.2 were entered into the model in a forward stepwise approach. Pregnancy outcome was available on 4,439 pregnancies from 2,510 mares. Having had two or more prior abortions (odds ratio (OR) 7.91, 95% confidence interval (CI) 2.86, 21.88), conceiving on the second or subsequent covered estrous cycle (OR 1.84, 95% CI 1.22, 2.78) and conceiving multiple conceptuses (OR 1.68, 95% CI 1.02, 2.76) were associated with an increased risk of abortion compared to null parous, first estrous cycle covers and singleton conceptions respectively. Increasing paternal age (OR 0.95, 95% CI 0.90, 0.99) was associated with a decreasing risk of abortion. Mare and farm variance were not significant in the final model, LRT p=0.43. These findings provide evidence-based data to inform Thoroughbred breeding management practices to help mitigate abortion risk.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Multivariable analysis to determine risk factors associated with abortion in mares

Roach

Sabogal

Smith

et al. 2022

Reproduction and Fertility

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“…In mares, de Leon, et al [92], reported an association between variants on the P53 gene and abortion after analyzing 105 Thoroughbred individuals, demonstrating the existence of candidate genes with a proven relationship with reproductive efficiency in mares ( Table 5). More recently, El-Sheikh Ali, et al [91] reported 12 genes differentially expressed in mares with placentitis (Table 5).…”

Section: Association Studies and Fertility In Horsesmentioning

confidence: 99%

Impaired Reproductive Function in Equines: From Genetics to Genomics

Laseca

Anaya

Peña

et al. 2021

Animals

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Fertility is one of the key factors in the economic and productive success of the equine industry. Despite this, studies on the genetic causes affecting reproductive performance are scarce, especially in mares, where the genetic architecture of the reproductive traits is extremely complex. Today, with the increasing availability of new genomic methodologies for this species, we are presented with an interesting opportunity to understand the genetic basis of equine reproductive disorders. These include, among others, novel techniques for detecting chromosomal abnormalities, whose association with infertility in horses was established over 50 years ago; new sequencing technologies permitting an accurate detection of point mutations influencing fertility, as well as the study of inbreeding and molecular homozygosity, which has been widely suggested as one of the main causes of low reproductive performance in horses. Finally, over the last few years, reproductive performance has also been associated with copy number variants and candidate genes detected by genome-wide association studies on fertility traits. However, such studies are still scarce, probably because they depend on the existence of large and accurate phenotypic datasets of reproductive and/or fertility traits, which are still difficult to obtain in equines.

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“…The single nucleotide polymorphism of the p53 gene results in three genotypes: Arg/Arg, Arg/Pro, and Pro/Pro. These genotypes were compared with available breeding data by Leon et al (2012). For the 105 English Thoroughbred mares included in the study, allele frequency (codon 72, exon 4) was 73.3% Arg/Pro, 17.1% Arg/Arg, and 9.6% Pro/ Pro.…”

Section: Effect Of the P53 Gene On Reproductionmentioning

confidence: 99%

Role of genes related to performance and reproduction of Thoroughbreds in training and breeding – A review

Kis

Rózsa

Húsvéth

et al. 2021

AVet

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Thoroughbreds have been selected for speed and stamina since the 1700s. This selection resulted in structural and functional system-wide adaptations that enhanced physiological characteristics for outstanding speed of 61–71 kph (38–44 mph) between 1,000 and 3,200 m (5 furlongs – 2 miles). At present, horseracing is still an economically important industrial sector, therefore intensive research is underway to explore genes that allow the utilisation of genetic abilities and are significant in breeding and training. This study aims to provide an overview of genetic research and its applicability related to Thoroughbreds.

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Association between single nucleotide polymorphisms in p53 and abortion in Thoroughbred mares

Cited by 6 publications

References 9 publications

Multivariable analysis to determine risk factors associated with abortion in mares

Multivariable analysis to determine risk factors associated with abortion in mares

Impaired Reproductive Function in Equines: From Genetics to Genomics

Role of genes related to performance and reproduction of Thoroughbreds in training and breeding – A review

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