Dataset Information

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

ABSTRACT: BACKGROUND Genetic 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 AND METHODS The 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. RESULTS Six 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. CONCLUSIONS There were no significant associations between CLCA4 SNPs and NOA in men in a Chinese Han population of Northeast China.

SUBMITTER: Wang R

PROVIDER: S-EPMC6436216 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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

Wang Ruixue R Xi Qi Q Zhang Hongyang H Jiang Yuting Y He Jing J Li Leilei L Liu Ruizhi R Zhang Hongguo H

Medical science monitor : international medical journal of experimental and clinical research 20190319

BACKGROUND Genetic 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 ...[more]

PMID: 30887952

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Project description:BackgroundElevated plasma gonadotropins were associated with desensitization of Sertoli and Leydig cells in the male testis. Testis spermatogenesis ability would be improved via inhibiting high endogenous gonadotropin in patients with severe oligozoospermia. Whether it would be beneficial for non-obstructive azoospermia (NOA) patients was still unclear.MethodsGoserelin, a gonadotropin releasing hormone agonist (GnRHα) was used to suppress endogenous gonadotropin levels (gonadotropin reset) in the NOA patients, improving the sensitization of the Sertoli and Leydig cells. Then human menopausal gonadotropin (hMG) and human chorionic gonadotropin (hCG) were injected to stimulate them to ameliorate the ability of testicular spermatogenesis. The main outcome measure was the existence of spermatozoa in the semen or by testicular sperm extraction (TESE). Elevation of inhibin B and/or ameliorative expression pattern of ZO-1 was the secondary objective.ResultsA total of 35 NOA men who failed to retrieve sperm via TESE were enrolled. Among these, 10 patients without treatment were selected as control group and secondary TESE was performed 6 months later. Of the 25 treated men, inhibin B was elevated in 11 patients in the first 4 weeks (Response group), while only 5 patients had constant increase in the following 20 weeks (Response group 2). Of the 5 men, 2 men acquired sperm (Response group 2B), while 3 failed (Response group 2A). Immunofluorescence of mouse vasa homologue (MVH) and ZO-1 showed that both positive MVH signals and ZO-1 expression were significantly increased in the Response group 2, but only Response group 2B showed ameliorative ZO-1 distribution.ConclusionsGonadotropin reset, a new therapeutic protocol with GnRHα, was able to improve the ability of testicular spermatogenesis in the NOA patients through restoring the sensitivity of Sertoli and Leydig cells, which were reflected by elevated inhibin B and ameliorative ZO-1 expression and distribution.Trial registrationClinicalTrials.gov identifier: NCT02544191 .

Dataset Information

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

Publications

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

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