Association of genetic markers within the KIT and KITLG genes with human male infertility
José Jorge Galán,M De Felici,Belén Buch,Maria Del Carmen Rivero,Ana Segura,Jose Luis Royo,Natalio Cruz,Luis Miguel Real,Agustín Ruiz +8 more
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TLDR
The data indicate that the KIT/KITLG system may be involved in a low sperm count trait in humans.Abstract:
BACKGROUND: There is much evidence involving the KIT tyrosine kinase receptor and its ligand KITLG in the survival and proliferation of germ cells. Animal models and functional studies in humans suggest that this signalling pathway plays a role in male infertility. METHODS: We studied three and two single-nucleotide polymorphisms (SNPs) (rs3819392, rs3134885, rs2237012, rs10506957 and rs995030) located within the genomic region of the KIT and KITLG genes, respectively. A total of 167 idiopathic infertile men (sperm counts <5 million spz/ml) and 465 unrelated healthy controls from the same geographical region were genotyped for these SNPs. RESULTS: We found a statistically significant association of the rs3819392 polymorphism, which is located within the KIT gene, with idiopathic male infertility. In addition, a deviation from the Hardy-Weinberg equilibrium (HWE) law was observed for rs10506957 polymorphism within the KITLG gene only in the infertile group. CONCLUSIONS: Our data indicate that the KIT/KITLG system may be involved in a low sperm count trait in humans.read more
Citations
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Journal ArticleDOI
Gene polymorphisms and male infertility – a meta-analysis and literature review
TL;DR: A review of the literature following a thorough search of PubMed, a compilation of meta-analyses of studies reporting an association with male fertility where the population(s) could be clearly identified as fertile and/or infertile, and a summary of all polymorphisms that have been investigated in single case-control studies to date is presented in this paper.
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Genetic causes of spermatogenic failure
TL;DR: The recent evolution in the development of whole-genome-based techniques and the large-scale analysis of mouse models might help in this process of finding out the underlying causes of male infertility.
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Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent
TL;DR: This follow-up study indicates that, at least in Caucasian men, no single common SNP accounts for a significant proportion of spermatogenic failure cases and suggests much larger genome-wide studies will be necessary to confidently validate these SNPs and identify novel SNPs associated with male infertility.
Book ChapterDOI
Origin, Migration, and Proliferation of Human Primordial Germ Cells
TL;DR: This chapter describes the life history of human PGCs combining old and new information and, where appropriate, making use of the most recent results obtained in the mouse.
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Genetic risk factors in male infertility.
Csilla Krausz,Claudia Giachini +1 more
TL;DR: There is an increasing interest towards genetic susceptibility factors to male infertility and the most promising polymorphisms are in genes involved in the endocrine regulation of spermatogenesis and on the Y chromosome, the “gr/gr” deletions.
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