中国人群中SOHLH1和SOHLH2基因变异与非梗阻性无精子症风险的关联

Association of genetic variants in SOHLH1 and SOHLH2 with non-obstructive azoospermia risk in the Chinese population.

作者信息

Song Bing, Zhang Yan, He Xiao-jin, Du Wei-dong, Ruan Jian, Zhou Fu-sheng, Wu Huan, Zha Xing, Xie Xu-shi, Ye Lei, Wei Zhao-Lian, Zhou Ping, Cao Yun-Xia

机构信息

Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China; Institute of Reproductive Medicine, Anhui Medical University, Hefei, China; Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs, Hefei, China.

Department of Biology, Anhui Medical University, Hefei, China; State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Anhui Medical University, Hefei, China.

出版信息

Eur J Obstet Gynecol Reprod Biol. 2015 Jan;184:48-52. doi: 10.1016/j.ejogrb.2014.11.003. Epub 2014 Nov 20.

DOI:10.1016/j.ejogrb.2014.11.003

PMID:25463635

Abstract

OBJECTIVE

Spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1) and spermatogenesis and oogenesis specific basic helix-loop-helix 2 (SOHLH2) play essential roles for both spermatogenesis and oogenesis. The aim of this study was to evaluate the association of SOHLH1 and SOHLH2 single nucleotide polymorphisms (SNPs) with non-obstructive azoospermia (NOA) in the Chinese population.

STUDY DESIGN

In this study, we assessed 7 single nucleotide polymorphisms (SNPs) of SOHLH1 and SOHLH2 with Sequenom iplex technology in 361 NOA cases and 368 fertile controls.

RESULTS

We found that the SNPs rs1328626 and rs6563386 of SOHLH2 were significantly associated with NOA risk, of which, a protective effect of minor allele T of rs1328626 on NOA (P = 0.038, odds ratio [OR] = 0.799, 95% confidence interval [CI] = 0.645-0.988) and a significantly increased risk of the SNP rs6563386 with the minor allele G to NOA (P = 0.029, OR = 1.402, 95% CI = 1.034-1.9) were observed, respectively. Our data indicated that the haplotype GC of the variants rs1328626 and rs6563386 conferred a significantly increased risk of NOA (P = 0.031, OR = 1.397, 95% CI = 1.031-1.895). Moreover, we found the genotype distribution of rs1328641 was significantly associated with testes volume in the NOA patients (P = 0.022).

CONCLUSIONS

The polymorphisms rs1328626 and rs6563386 of the SOHLH2 gene would be the genetic risk factors for NOA in the Chinese population. The SNP rs1328641 might influence testes development in the NOA patients.

摘要

目的

精子发生与卵子发生特异性碱性螺旋-环-螺旋蛋白1（SOHLH1）和精子发生与卵子发生特异性碱性螺旋-环-螺旋蛋白2（SOHLH2）在精子发生和卵子发生过程中均发挥着重要作用。本研究旨在评估中国人群中SOHLH1和SOHLH2单核苷酸多态性（SNP）与非梗阻性无精子症（NOA）的相关性。

研究设计

在本研究中，我们采用Sequenomiplex技术对361例NOA患者和368例生育力正常的对照者的SOHLH1和SOHLH2的7个单核苷酸多态性（SNP）进行了评估。

结果

我们发现SOHLH2的SNP rs1328626和rs6563386与NOA风险显著相关，其中，rs1328626的次要等位基因T对NOA具有保护作用（P = 0.038，优势比[OR] = 0.799，95%置信区间[CI] = 0.645 - 0.988），而rs6563386的次要等位基因G使NOA风险显著增加（P = 0.029，OR = 1.402，95% CI = 1.034 - 1.9）。我们的数据表明，rs1328626和rs6563386变异的单倍型GC使NOA风险显著增加（P = 0.031，OR = 1.397，95% CI = 1.031 - 1.895）。此外，我们发现rs1328641的基因型分布与NOA患者的睾丸体积显著相关（P = 0.022）。