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

ABSTRACT: A previous genomewide association study of non-obstructive 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 significantly associated with NOA. Therefore, we conducted an association study, consisting of 550 NOA cases and 555 normal controls, to further validate whether the risk of those three SNPs still existed in an independent Han Chinese male population. The association studies did not support the association of rs12097821 and rs2477686 with NOA for both genotype and allele distributions, but rs10842262 in the SOX5 gene was significantly associated with NOA (chi square =9.31; P=0.0095 and chi square =9.27; P=0.0023, respectively). Our study provides genetic evidence for SOX5 polymorphism in NOA, contributing to predicting males at high risk of NOA in Han Chinese population. Considering genetic differences among populations, future validating studies in independent samples are suggested

SUBMITTER: Hu H

PROVIDER: S-EPMC4708472 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature

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Association Between Polymorphisms in the Angiotensin-Converting Enzyme Gene and Non-Obstructive Azoospermia in the Chinese Han Population from Northeast China.

Project description:BACKGROUND Genetic defects are commonly observed in infertile males, although the majority of cases remain idiopathic. In recent years, the relationship between single-nucleotide polymorphisms (SNPs) and male infertility has received increasing attention. The objective of this study was to explore the relationship between non-obstructive azoospermia (NOA) and single-nucleotide polymorphisms in the angiotensin-converting enzyme gene (ACE) using ligase detection reaction (LDR)-PCR. MATERIAL AND METHODS A retrospective study was performed and we screened 4 ACE SNPs (rs4316, rs4331, rs4343, and rs4362) in 121 NOA cases and 256 control subjects by LDR-PCR. The relationship between SNPs and NOA was analyzed. RESULTS ACE SNPs were in Hardy-Weinberg equilibrium (P=0.089 for rs4331, P=0.089 for rs4343, P=0.089 for rs4316, and P=0.381 for rs4362). The allelic and genotypic frequencies of the 4 SNPs were not significantly different between cases and controls (P=0.123 for rs4331, P=0.123 for rs4343, P=0.123 for rs4316, and P=0.179 for rs4362). Haplotype analysis showed the existence of 3 haplotypes, TGAC, CAGT, and TGAT, which showed statistical significance of 0.889, 0.889, and 0.781, respectively, between cases and controls. CONCLUSIONS No significant association was found between ACE SNPs rs4316, rs4331, rs4343, or rs4362 and NOA in the Chinese Han population of Northeast China.

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AB200. Association of rs3129878 and rs498422in the HLA region with non-obstructive azoospermia in the Han Chinese population

Project description:Objective The previous genome-wide association study (GWAS) of non-obstructive azoospermia (NOA) in the Han Chinese populations identified two NOA-risk loci (rs498422 and rs3129878) within the HLA region, and provided strong evidence for the genetic influence of male infertility. A further case-control study found that only rs3129878 remained to be significantly associated with NOA in the Japanese population. Therefore, we conducted the association study to further validate whether the risk of NOA caused by these two SNPs was still existed in an independent Han Chinese male population, consisting of 550 NOA cases and 555 normal controls. Design A case-control study of the NOA susceptibility genes within the HLA region associations. Materials and methods These two SNPs were analyzed in 550 NOA patients and 555 controls of Chinese origin using direct sequencing. Then, the genotype and allele distributions of them were further analyzed using the online software SHEsis (http://analysis.bio-x.cn). Results The association studies strongly supported the significant association ofrs498422 and rs3129878 with NOA for both genotype and allele distributions (P=0.047 and P=1.87×10, respectively). Conclusions In our replication study of Chinese samples, we provided genetic evidence for the contribution of these two NOA-risk SNPs within the HLA genes region in predicting males at high risk of NOA in Han Chinese population. Considering genetic differences among populations, future validating studies in independent samples are suggested.

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Association of single nucleotide polymorphisms in the USF1, GTF2A1L and OR2W3 genes with non-obstructive azoospermia in the Chinese population.

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Novel Hemizygous Mutations of <i>TEX11</i> Cause Meiotic Arrest and Non-obstructive Azoospermia in Chinese Han Population.

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X chromosome-wide identification of SNVs in microRNA genes and non-obstructive azoospermia risk in Han Chinese population.

Project description:Human X chromosome has higher densities of microRNAs (miRNAs) compared to the average densities on autosomes. Given that numbers of X-linked miRNAs can escape from meiotic sex chromosome inactivation (MSCI) silencing, it is proposed that X-linked miRNAs may play critical roles in the process of spermatogenesis. To test the hypothesis, we performed DNA capture sequencing of human X-linked miRNAs, which was followed by a two-stage case-control study to identify the non-obstructive azoospermia (NOA) related single nucleotide variants (SNVs) in 1107 NOA cases and 1191 fertile healthy controls. Eventually, we found rs5951785, located near hsa-miRNA-506/507, increased the risk of NOA, while rs1447393, near hsa-miRNA-510, decreased the risk of NOA. Functional analysis revealed that rs5951785 significantly inhibited cell proliferation and induced cell apoptosis. Taken together, our results demonstrated that X-linked miRNAs played important roles in the pathogenesis of NOA.

| S-EPMC5226495 | biostudies-literature

Association of ESX1 gene variants with non-obstructive azoospermia in Chinese males.

Project description:Genetic factors are one of the most important causes of non-obstructive azoospermia (NOA). ESX1 is an X-linked testis-biased expressed gene, and a potential biomarker for testicular sperm retrieval in NOA patients, yet few systematic studies have investigated its association with NOA. Here, we performed selected exonic sequencing in a large cohort of Chinese males, and four novel missense mutations (including one compound mutation), one novel synonymous mutation of ESX1 unique to NOA patients were identified. We analyzed the effects of ESX1 mutations on cyclin A degradation and cell cycle progression by immunoprecipitation assay and flow cytometry, and found that the compound mutant p.[P365R; L366V] ESX1 compromised the stabilizing effect of ESX1 on polyubiquitinated cyclin A, thereby causing the failure of M phase arrest in cells. Further studies showed that the deleterious effect of the compound mutations on ESX1 protein function was attributed to p.P365R but not p.L366V alteration. The novel ESX1 mutation p.P365R might confer high risk for NOA in Han Chinese population, probably via affecting cell cycle control.

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Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men.

Project description:Genome-wide association studies (GWAS) have identified several common loci contributing to non-obstructive azoospermia (NOA). However, a substantial fraction of NOA heritability remains undefined, especially those low-frequency [defined here as having a minor allele frequency (MAF) between 0.5 and 5%] and rare (MAF below 0.5%) variants. Here, we performed a 3-stage exome-wide association study in Han Chinese men to evaluate the role of low-frequency or rare germline variants in NOA development. The discovery stage included 962 NOA cases and 1348 healthy male controls genotyped by exome chips and was followed by a 2-stage replication with an additional 2168 cases and 5248 controls. We identified three low-frequency variants located at 6p22.2 (rs2298090 in HIST1H1E encoding p.Lys152Arg: OR = 0.30, P = 2.40 × 10(-16)) and 6p21.33 (rs200847762 in FKBPL encoding p.Pro137Leu: OR = 0.11, P = 3.77 × 10(-16); rs11754464 in MSH5: OR = 1.78, P = 3.71 × 10(-7)) associated with NOA risk after Bonferroni correction. In summary, we report an instance of newly identified signals for NOA risk in genes previously undetected through GWAS on 6p22.2-6p21.33 in a Chinese population and highlight the role of low-frequency variants with a large effect in the process of spermatogenesis.

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Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study.

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Interleukin-33 gene polymorphisms and chronic obstructive pulmonary disease in the Chinese Han population.

Project description:ObjectiveTo investigate the relationship between interleukin (IL)-33 gene polymorphisms rs928413 and rs7044343 with chronic obstructive pulmonary disease (COPD) in the Chinese Han population.MethodWe assessed IL-33 rs928413 and rs7044343 polymorphisms by Sanger sequencing of PCR products amplified from the genomic DNA of 160 COPD patients and 123 healthy controls.ResultsThere was no significant difference in the distribution of rs928413 AA, AG, or AA genotypes or rs7044343 CC, CT, or TT genotypes between the two groups. However, COPD patients had a significantly higher frequency of the rs928413 G allele G (14.1% vs 7.3%, respectively). This allele was significantly associated with susceptibility to COPD (odds ratio [OR]: 2.04, 95% confidence interval [CI]: 1.12-3.57). The rs928413 dominant inheritance model was associated with COPD susceptibility (OR: 2.08, 95%CI: 1.09-4.04).ConclusionThe G allele of rs928413 and the rs928413 dominant inheritance model were associated with susceptibility to COPD in the Chinese Han population.

| S-EPMC7731714 | biostudies-literature

Association of ARHGAP18 polymorphisms with schizophrenia in the Chinese-Han population.

Project description:Numerous developmental genes have been linked to schizophrenia (SZ) by case-control and genome-wide association studies, suggesting that neurodevelopmental disturbances are major pathogenic mechanisms. However, no neurodevelopmental deficit has been definitively linked to SZ occurrence, likely due to disease heterogeneity and the differential effects of various gene variants across ethnicities. Hence, it is critical to examine linkages in specific ethnic populations, such as Han Chinese. The newly identified RhoGAP ARHGAP18 is likely involved in neurodevelopment through regulation of RhoA/C. Here we describe four single nucleotide polymorphisms (SNPs) in ARHGAP18 associated with SZ across a cohort of >2000 cases and controls from the Han population. Two SNPs, rs7758025 and rs9483050, displayed significant differences between case and control groups both in genotype (P = 0.0002 and P = 7.54×10-6) and allelic frequencies (P = 4.36×10-5 and P = 5.98×10-7), respectively. The AG haplotype in rs7758025-rs9385502 was strongly associated with the occurrence of SZ (P = 0.0012, OR = 0.67, 95% CI = 0.48-0.93), an association that still held following a 1000-times random permutation test (P = 0.022). In an independently collected validation cohort, rs9483050 was the SNP most strongly associated with SZ. In addition, the allelic frequencies of rs12197901 remained associated with SZ in the combined cohort (P = 0.021), although not in the validation cohort alone (P = 0.251). Collectively, our data suggest the ARHGAP18 may confer vulnerability to SZ in the Chinese Han population, providing additional evidence for the involvement of neurodevelopmental dysfunction in the pathogenesis of schizophrenia.

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