Association Study Between MTRR, TAF4B, PIWIL1 Variants and Non-Obstructive Azoospermia in Northeast Chinese Han Population

Yang, Xuyan; Zhang, Hao; Jiang, Yuting; Zhang, Hongguo; Hu, Xiaonan; Zhu, Dongliang; Geng, Dongfeng

doi:10.7754/clin.lab.2018.180525

Cited by 2 publications

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“…This gene is a transcriptional regulator enriched in human and mouse testis. However, TAF4B variants were not associated with NOA in a recent study of a Han population in north-east China [139]. Null mutant mice become infertile by the age of 3 months, with an absence of germ cells in the seminiferous tubules and an impairment in spermatogonial stem cell proliferation [140].…”

Section: Causative Gene Mutations In Noamentioning

confidence: 99%

Genetic defects in human azoospermia

Ghieh

Mitchell

Mandon‐Pepin

et al. 2019

Basic Clin. Androl.

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As with many other diseases, genetic testing in human azoospermia was initially restricted to karyotype analyses (leading to diagnostic chromosome rearrangement tests for Klinefelter and other syndromes). With the advent of molecular biology in the 1980s, genetic screening was broadened to analyses of Y chromosome microdeletions and the gene coding for the cystic fibrosis transmembrane conductance regulator ( CFTR ). Decades later, the emergence of whole-genome techniques has led to the identification of other genetic defects associated with human azoospermia. Although TEX11 and ADGRG2 defects are frequently described in men with azoospermia, most of the causal gene defects found to date are private (i.e. identified in a small number of consanguineous families). Here, we provide an up-to-date overview of all the types of genetic defects known to be linked to human azoospermia and try to give clinical practice guidelines according to azoospermia phenotype. Along with homozygous mutations, polymorphisms and epigenetic defects are also briefly discussed. However, as these variations predispose to azoospermia, a specific review will be needed to compile data on all the particular genetic variations reported in the literature.

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Section: Causative Gene Mutations In Noamentioning

confidence: 99%

Genetic defects in human azoospermia

Ghieh

Mitchell

Mandon‐Pepin

et al. 2019

Basic Clin. Androl.

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“…Compared with obstructive azoospermia, patients with non-obstructive azoospermia (NOA) are less likely to be fertile. The genetic mechanism of NOA remains unclear, and has recently become a focus for research in reproductive medicine [2]. Currently, the genetic causes of azoospermia are known to include chromosomal abnormalities, azoospermia factor (AZF) microdeletion of the Y chromosome, copy number variations (CNVs), and monogenic mitochondrial and epigenetic abnormalities [3].…”

Section: Introductionmentioning

confidence: 99%

Chloride Channel Accessory 4 (CLCA4) Gene Polymorphisms and Non-Obstructive Azoospermia: A Case-Control Study

Wang

Zhang

et al. 2019

Med Sci Monit

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BackgroundGenetic mechanisms are associated with male infertility, but the association with non-obstructive azoospermia (NOA) remains unclear. Mutations in the chloride channel accessory 4 (CLCA4) gene have been shown to have a role in male infertility. The aim of this study was to investigate the associations between single nucleotide polymorphisms (SNPs) of the CLCA4 gene and NOA in a Chinese Han population of Northeast China using combined targeted gene capture next-generation sequencing and bioinformatics analysis.Material/MethodsThe study group included 100 men with NOA, and there were 100 normal controls. Targeted gene capture next-generation sequencing was performed combined with bioinformatics analysis. Ten CLCA4 SNPs were screened in the cases of NOA and control subjects. The associations between SNPs and NOA were analyzed.ResultsSix SNPs, c.390C>T (rs190628533), c.1474A>G (rs2231599), c.2105C>G (rs757773924), c.2371A>T) (rs759981524), c.956G>A (rs763334876), and c.895T>C (rs79822589) were identified in the study group of cases in NOA but not in control subjects. All CLCA4 SNPs were in Hardy-Weinberg equilibrium. The allele and genotype frequencies of the six SNPs were not significantly different between the study group and the controls. Haplotype analysis showed the existence of two haplotypes, CTAGACTACG and CTCGACTACG, which showed statistical significance of 0.074, and 0.088 between cases of NOA and the controls, respectively.ConclusionsThere were no significant associations between CLCA4 SNPs and NOA in men in a Chinese Han population of Northeast China.

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Association Study Between MTRR, TAF4B, PIWIL1 Variants and Non-Obstructive Azoospermia in Northeast Chinese Han Population

Cited by 2 publications

References 0 publications

Genetic defects in human azoospermia

Genetic defects in human azoospermia

Chloride Channel Accessory 4 (CLCA4) Gene Polymorphisms and Non-Obstructive Azoospermia: A Case-Control Study

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