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Genetic polymorphisms and haplotypes of the DJ-1 gene promoter associated with the susceptibility to male infertility.

ABSTRACT: In this study, we evaluate the relationship between genetic polymorphisms of the DJ-1 gene, g.-6_+10del, and g.168_185del with male infertility susceptibility.Four hundred and twenty-two male infertile patients and 285 fertile male controls were recruited. Genotyping was performed by polymerase chain reaction. In silico analysis was performed by EPD, ElemeNT, SNPnexus, and PROMO to predict the potential functions of rs901561484 and rs373653682 polymorphisms.The Del (D) allele carriers of DJ-1 g.-6_+10del polymorphism were significantly associated with the risk of male infertility in total infertile, asthenozoospermia, and oligoasthenozoospermia patients. Moreover, the Del (D) allele of DJ-1 g.-6_+10del polymorphism significantly increased in total male infertile, asthenozoospermia, and oligoasthenozoospermia groups. In addition, the frequencies of different genotypes and the Del allele and Dup allele carriers of DJ-1 g.168_185del gene polymorphisms were associated with male infertility in total infertile and four different sub-group patients. Furthermore, haplotype analysis of DJ-1 g.-6_+10del and g.168_185del polymorphisms revealed that the D-Dup and I-Del haplotype frequencies significantly increased the risk of male infertility, while I-Ins haplotypes were associated with a decreased risk of male infertility in total and sub-group patients. The in silico analysis showed that the presence of Ins and/or Dup alleles of the DJ-1 g.-6_+10del and g.168_185del polymorphisms could provide additional binding sites of more nuclear factors and probably affect transcriptional activity.Our study presents evidence of a strong association between functional polymorphisms of the DJ-1 promoter, g.-6_+10del, and g.168_185del with the risk of male infertility.

SUBMITTER: Jahantigh D

PROVIDER: S-EPMC5714825 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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Genetic polymorphisms and haplotypes of the DJ-1 gene promoter associated with the susceptibility to male infertility.

Jahantigh Danial D Hosseinzadeh Colagar Abasalt A Salimi Saeedeh S

Journal of assisted reproduction and genetics 20170920 12

<h4>Purpose</h4>In this study, we evaluate the relationship between genetic polymorphisms of the DJ-1 gene, g.-6_+10del, and g.168_185del with male infertility susceptibility.<h4>Methods</h4>Four hundred and twenty-two male infertile patients and 285 fertile male controls were recruited. Genotyping was performed by polymerase chain reaction. In silico analysis was performed by EPD, ElemeNT, SNPnexus, and PROMO to predict the potential functions of rs901561484 and rs373653682 polymorphisms.<h4>Re ...[more]

PMID: 28932933

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Project description:BackgroundMethylenetetrahydrofolate reductase (MTHFR) converts 5,10-methylene tetrahydrofolate to 5-methyl tetrahydrofolate and affects the activity of cellular cycles participating in nucleotide synthesis, DNA repair, genome stability, maintenance of methyl pool, and gene regulation. Genetically compromised MTHFR activity has been suggested to affect male fertility. The objective of the present study was to find the impact on infertility risk of c.203G>A, c.1298A>C, and c.1793G>A polymorphisms in the MTHFR gene.MethodsPCR-RFLP and DNA sequencing were used to genotype the common SNPs in the MTHFR gene in 630 infertile and 250 fertile males. Chi-square test was applied for statistical comparison of genotype data. Linkage disequilibrium between the SNPs and the frequency of common haplotypes were assessed using Haploview software. Biochemical levels of total homocysteine (tHcy) and folic acid were measured. Meta-analysis on c.1298A>C polymorphism was performed using data from ten studies, comprising 2734 cases and 2737 controls.Resultsc.203G>A and c.1298A>C were found to be unrelated to infertility risk. c.1793G>A was protective against infertility (P = 0.0008). c.677C>T and c.1793G>A were in significant LD (D' = 0.9). Folic acid and tHcy level did not correlate with male infertility. Pooled estimate on c.1298A>C data from all published studies including our data showed no association of this polymorphism with male infertility (Odds ratio = 1.035, P = 0.56), azoospermia (Odds ratio = 0.97, P = 0.74), or oligoasthenoteratozoospermia (Odds ratio = 0.92, p = 0.29). Eight haplotypes with more than 1% frequency were detected, of which CCGA was protective against infertility (p = 0.02), but the significance of the latter was not seen after applying Bonferroni correction.ConclusionAmong MTHFR polymorphisms, c.203G>A and c.1298A>C do not affect infertility risk and c.1793G>A is protective against infertility. Haplotype analysis suggested that risk factors on the MTHFR locus do not extend too long on the DNA string.

Dataset Information

Genetic polymorphisms and haplotypes of the DJ-1 gene promoter associated with the susceptibility to male infertility.

Publications

Genetic polymorphisms and haplotypes of the DJ-1 gene promoter associated with the susceptibility to male infertility.

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