Dataset Information

An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population.

ABSTRACT: PURPOSE: To investigate the incidence of single nucleotide polymorphisms in SPO11 and its influence in idiopathic male infertility in China. METHODS: Infertility factors such as anatomical, immunological and infectious disorders were examined in selecting patients with idiopathic male infertility. Routine semen analysis was performed. DNA was isolated from peripheral blood of the selected patients and control group, and five SNP loci of SPO11 were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Furthermore, nucleotide sequences were sequenced. RESULTS: SNP5 (rs28368082) in the exon7 of SPO11 was identified to be associated with idiopathic male infertility (P?=?0.037 for differences across genotypes). A transversion (C5679T) was detected in eight patients (11.0%), which led arginine change into tryptophan. And this variant was not found in the remaining patients and controls. CONCLUSION: A SPO11 SNP was associated with idiopathic male reproduction, suggested that SPO11 might has an effect on premorbid functioning, which increase susceptibility for idiopathic male reproduction. Further research on this issue is still necessary.

SUBMITTER: Zhang J

PROVIDER: S-EPMC3170106 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature

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An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population.

Zhang Jing J Zhou Dang-xia DX Wang Hai-xu HX Tian Zhao Z

Journal of assisted reproduction and genetics 20110510 8

<h4>Purpose</h4>To investigate the incidence of single nucleotide polymorphisms in SPO11 and its influence in idiopathic male infertility in China.<h4>Methods</h4>Infertility factors such as anatomical, immunological and infectious disorders were examined in selecting patients with idiopathic male infertility. Routine semen analysis was performed. DNA was isolated from peripheral blood of the selected patients and control group, and five SNP loci of SPO11 were genotyped using polymerase chain re ...[more]

PMID: 21556891

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Project description:BACKGROUND: Genetic variation associated with human leukocyte antigen (HLA) genes has immunological functions and is associated with autoimmune diseases. To date, large-scale studies involving classical HLA genes have been limited by time-consuming and expensive HLA-typing technologies. To reduce these costs, single-nucleotide polymorphisms (SNPs) have been used to predict HLA-allele types. Although HLA allelic distributions differ among populations, most prediction model of HLA genes are based on Caucasian samples, with few reported studies involving non-Caucasians. RESULTS: Our sample consisted of 437 Han Chinese with Affymetrix 5.0 and Illumina 550 K SNPs, of whom 214 also had data on Affymetrix 6.0 SNPs. All individuals had HLA typings at a 4-digit resolution. Using these data, we have built prediction model of HLA genes that are specific for a Han Chinese population. To optimize our prediction model of HLA genes, we analyzed a number of critical parameters, including flanking-region size, genotyping platform, and imputation. Predictive accuracies generally increased both with sample size and SNP density. CONCLUSIONS: SNP data from the HapMap Project are about five times more dense than commercially available genotype chip data. Using chips to genotype our samples, however, only reduced the accuracy of our HLA predictions by only ~3%, while saving a great deal of time and expense. We demonstrated that classical HLA alleles can be predicted from SNP genotype data with a high level of accuracy (80.37% (HLA-B) ~95.79% (HLA-DQB1)) in a Han Chinese population. This finding offers new opportunities for researchers in obtaining HLA genotypes via prediction using their already existing chip datasets. Since the genetic variation structure (e.g. SNP, HLA, Linkage disequilibrium) is different between Han Chinese and Caucasians, and has strong impact in building prediction models for HLA genes, our findings emphasize the importance of building ethnic-specific models when analyzing human populations.

Dataset Information

An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population.

Publications

An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population.

Similar Datasets

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