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Association of NR3C1 / Glucocorticoid Receptor gene SNP with azoospermia in Japanese men
Author(s) -
Chihara Makoto,
Yoshihara Kosuke,
Ishiguro Tatsuya,
Adachi Sosuke,
Okada Hiroyuki,
Kashima Katsunori,
Sato Takaaki,
Tanaka Atsushi,
Tanaka Kenichi,
Enomoto Takayuki
Publication year - 2016
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/jog.12877
Subject(s) - single nucleotide polymorphism , genetics , snp , candidate gene , genome wide association study , biology , allele , genotyping , azoospermia , snp genotyping , snp array , gene , genotype , infertility , pregnancy
Aim The molecular pathogenesis of non‐obstructive azoospermia (NOA) is unclear. Our aim was to identify the genetic susceptibility for NOA in Japanese men by using a combination of transcriptome network analysis and SNP genotyping. Material and Methods We searched for candidate genes using RNA transcriptome network analysis of 2611 NOA‐related genes that we had previously reported. We analyzed candidate genes for disease linkage with single nucleotide polymorphisms (SNP) in the genomes of 335 Japanese men with NOA and 410 healthy controls using SNP‐specific real‐time polymerase chain reaction TaqMan assays. Results Three candidate genes ( NR3C1 , YBX2 , and BCL2 ) were identified by the transcriptome network analysis, each with three SNP. Allele frequency analysis of the nine SNP indicated a significantly higher frequency of the NR3C1 rs852977 G allele in NOA cases compared with controls (corrected P = 5.7e‐15; odds ratio = 3.20; 95% confidence interval, 2.40–4.26). The other eight candidate polymorphisms showed no significant association. Conclusion The NR3C1 rs852977 polymorphism is a potential marker for genetic susceptibility to NOA in Japanese men. Further studies are necessary to clarify the association between the NR3C1 polymorphism and alterations of glucocorticoid signaling pathway leading to male infertility.