PEX10, SIRPA-SIRPG, and SOX5 gene polymorphisms are strongly associated with nonobstructive azoospermia susceptibility

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AB186. Association study between polymorphisms of PRMT6, PEX10, SOX5, and non-obstructive azoospermia in the Han Chinese population

A previous genomewide association study of nonobstructive azoospermia (NOA) in the Han Chinese population identified three risk loci (rs12097821, rs2477686, and rs10842262) and provided strong evidence for a genetic influence in male infertility. However, recently, a follow-up study of these single nucleotide polymorphism (SNP) loci in the Japanese population showed that none of them were signi...

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Major spliceosome defects cause male infertility and are associated with nonobstructive azoospermia in humans.

Processing of pre-mRNA into mRNA is an important regulatory mechanism in eukaryotes that is mediated by the spliceosome, a huge and dynamic ribonucleoprotein complex. Splicing defects are implicated in a spectrum of human disease, but the underlying mechanistic links remain largely unresolved. Using a genome-wide association approach, we have recently identified single nucleotide polymorphisms ...

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Surgical management of nonobstructive azoospermia

Nonobstructive azoospermia (NOA) is characterized by the complete absence of sperm in the ejaculate due to testicular failure. The evaluation and management of patients with NOA offer a challenge to the reproductive urologist. In the era of in vitro fertilization with intracytoplasmic sperm injection, surgical sperm extraction techniques can afford men with NOA biologic paternity. To provide a ...

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Association of Two Polymorphisms in H2B.W Gene with Azoospermia and Severe Oligozoospermia in An Iranian Population

Background During spermatogenesis, the H2B family, member W (H2B.W) gene, encodes a testis specific histone that is co-localized with telomeric sequences and has the potential role to mediate the sperm-specific chromatin remodeling. Previously H2B.W genetic variants were reported to be involved in susceptibility to spermatogenesis impairment. In the present study, two single nucleotide polymorp...

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Evaluation of Five Candidate Genes from GWAS for Association with Oligozoospermia in a Han Chinese Population

BACKGROUND Oligozoospermia is one of the severe forms of idiopathic male infertility. However, its pathology is largely unknown, and few genetic factors have been defined. Our previous genome-wide association study (GWAS) has identified four risk loci for non-obstructive azoospermia (NOA). OBJECTIVE To investigate the potentially functional genetic variants (including not only common variants...

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ژورنال

عنوان ژورنال: Journal of Assisted Reproduction and Genetics

سال: 2019

ISSN: 1058-0468,1573-7330

DOI: 10.1007/s10815-019-01417-w