Complex genetics of female fertility

Gajbhiye, Rahul; Fung, Jenny N.; Montgomery, Grant W.

doi:10.1038/s41525-018-0068-1

Cited by 51 publications

(39 citation statements)

References 106 publications

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“…For instance, prevalence of infertility may reach 16% 2 and 15% 3 in humans and beef female calves, respectively. Similar to what has been observed in humans 4 , the genetic architecture of fertility in beef heifers is very complex 5,6,7,8,9,10,11,12 . In line with this complexity, female reproductive traits have low heritability.…”

Section: Introductionsupporting

confidence: 72%

Rewiring of gene expression in circulating white blood cells is associated with pregnancy outcome in heifers (Bos taurus)

Moorey¹,

Walker

Elmore

et al. 2020

Preprint

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16Infertility is a disease that affects humans and cattle in similar ways. The resemblance includes 17 complex genetic architecture, multiple etiology, low heritability of fertility related traits in females, 18 and the frequency in the female population. Here, we used cattle as a biomedical model to test 19 the hypothesis that gene expression profiles of protein-coding genes expressed in peripheral 20 white blood cells (PWBCs), and circulating micro RNAs in plasma, are associated with female 21 fertility, measured by pregnancy outcome. We drew blood samples from 17 female calves on the 22 day of artificial insemination and analyzed transcript abundance for 10496 genes in PWBCs and 23 290 circulating micro RNAs. The females were later classified as pregnant to artificial 24 insemination, pregnant to natural breeding or not pregnant. We identified 1860 genes producing 25 significant differential coexpression (eFDR<0.002) based on pregnancy outcome. Additionally, 26 237 micro RNAs and 2274 genes in PWBCs presented differential coexpression based on 27 pregnancy outcome. Furthermore, using a machine learning prediction algorithm we detected a 28 subset of genes whose abundance could be used for blind categorization of pregnancy outcome. 29Our results provide strong evidence that bloodborne transcript abundance is highly associated 30 with fertility in females. 42dissecting female fertility traits 20,21 . 43Beyond the importance as a biomedical model, cattle production systems provide 44 approximately 28% 22 of the protein supply globally. Improving cattle production efficiency is 45 essential for farmers to attain sustainable production and support the growing demand for animal 46 protein 22 . Infertility is a major factor that hinders efficiency in cattle production, and it starts with 47 limited success of pregnancy in young female calves. First breeding success greatly influences 48 the lifetime efficiency of beef replacement heifers. Heifers that calve early in their first calving 49 season experience increased productivity and longevity than their later calving herd 50 mates 23,24,25,26 . Furthermore, the genetic correlation between yearling pregnancy rate and lifetime 51 pregnancy rate is high (0.92-0.97) 27,28 . Therefore, the ability to identify heifers that experience 52 optimal fertility during the first breeding is essential to the sustainability of beef cattle production 53 systems. 54The examination of the genetic components of fertility in beef heifers have yielded several 55 genes potentially associated with fertility traits 5,6,7,8,9,10,11,12 , but the effect of these markers are 56 minimal, and there is no clear redundancy in genetic markers identified across breeds. Beyond 57 the genomic profiling, the analysis of multiple layers of an individual's molecular blueprint is likely 58 key for understanding the underlying biology of complex traits 29 . In line with this rationale, 59 expression-trait association studies have emerged as a means to better understand complex 60 traits 30,31 . Specificall...

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Section: Introductionsupporting

confidence: 72%

Rewiring of gene expression in circulating white blood cells is associated with pregnancy outcome in heifers (Bos taurus)

Moorey¹,

Walker

Elmore

et al. 2020

Preprint

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“…Ultimately, sterility is a multifactorial problem. Many interfering factors can modulate the conception probability (including tubal dysfunction, body mass index, lifestyle) 9 .…”

Section: Discussionmentioning

confidence: 99%

Correlation between total sperm count and sperm motility and pregnancy rate in couples undergoing intrauterine insemination

Findeklee

Radosa

et al. 2020

Sci Rep

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The frequency and significance of sterility is increasing due to different socio-demographic factors in the industrialized countries. At the same time, the patients' demand for more natural and less invasive fertility treatments is increasing. the most common method used in subfertility is intrauterine insemination (iUi). Retrospectively, the data from the patients were analyzed, in which at least one insemination and a maximum of eight inseminations were performed in the last five years (observation period 01.01.2014-31.12.2018) at the Women's University Hospital Homburg. The primary endpoint was the onset of a clinical pregnancy. clinical pregnancy was correlated with the partner's total sperm count (sperm density in millions), sperm concentration and motility during insemination. these three parameters were evaluated according the World Health Organization (WHO) 2010 guidelines. The results of the spermiograms were correlated with clinical pregnancy outcome. the data were examined for 138 women with sterility, in which a total of 345 inseminations were performed (median 2.5 per woman, range 8 inseminations). There was no correlation found between spermiogram parameters and pregnancy probability in any of the inseminations. After 5 inseminations no further pregnancy occurred. the present study showed no correlation between the conception probability of intrauterine insemination (iUi) and the total sperm count/concentration/motility. After the sixth iUi, we no longer found conceptions in our patient collective. therefore, data from this study indicate that intrauterine inseminations can be performed at all severity levels of oligoasthenozoospermia. However, the treatment should be limited to five attempts.

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“…The etiopathogenesis of endometriosis is still undefined and debated. To better understand the mechanism leading to the development of endometriosis as a disabling disease instead of spontaneous resolution of peritoneal implants, genetic studies offer an approach of paramount importance [3,220,221,222]. The evidence for a genetic contribution to the development of endometriosis comes from epidemiological studies that reported familial aggregation of the disease in humans [223,224,225,226,227] and primates [228].…”

Section: The Genetics Of Endometriosismentioning

confidence: 99%

The Pathogenesis of Endometriosis: Molecular and Cell Biology Insights

Laganà

Garzon

Götte

et al. 2019

IJMS

356

265

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The etiopathogenesis of endometriosis is a multifactorial process resulting in a heterogeneous disease. Considering that endometriosis etiology and pathogenesis are still far from being fully elucidated, the current review aims to offer a comprehensive summary of the available evidence. We performed a narrative review synthesizing the findings of the English literature retrieved from computerized databases from inception to June 2019, using the Medical Subject Headings (MeSH) unique ID term “Endometriosis” (ID:D004715) with “Etiology” (ID:Q000209), “Immunology” (ID:Q000276), “Genetics” (ID:D005823) and “Epigenesis, Genetic” (ID:D044127). Endometriosis may origin from Müllerian or non-Müllerian stem cells including those from the endometrial basal layer, Müllerian remnants, bone marrow, or the peritoneum. The innate ability of endometrial stem cells to regenerate cyclically seems to play a key role, as well as the dysregulated hormonal pathways. The presence of such cells in the peritoneal cavity and what leads to the development of endometriosis is a complex process with a large number of interconnected factors, potentially both inherited and acquired. Genetic predisposition is complex and related to the combined action of several genes with limited influence. The epigenetic mechanisms control many of the processes involved in the immunologic, immunohistochemical, histological, and biological aberrations that characterize the eutopic and ectopic endometrium in affected patients. However, what triggers such alterations is not clear and may be both genetically and epigenetically inherited, or it may be acquired by the particular combination of several elements such as the persistent peritoneal menstrual reflux as well as exogenous factors. The heterogeneity of endometriosis and the different contexts in which it develops suggest that a single etiopathogenetic model is not sufficient to explain its complex pathobiology.

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Complex genetics of female fertility

Cited by 51 publications

References 106 publications

Rewiring of gene expression in circulating white blood cells is associated with pregnancy outcome in heifers (Bos taurus)

Rewiring of gene expression in circulating white blood cells is associated with pregnancy outcome in heifers (Bos taurus)

Correlation between total sperm count and sperm motility and pregnancy rate in couples undergoing intrauterine insemination

The Pathogenesis of Endometriosis: Molecular and Cell Biology Insights

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