Transcriptome-wide association study revealed two novel genes associated with nonobstructive azoospermia in a Chinese population

被引：14

作者：

Jiang, Tingting ^{[1
,2
]}

Wang, Yuzhuo ^{[2
]}

Zhu, Meng ^{[2
]}

Wang, Yifeng ^{[1
,2
]}

Huang, Mingtao ^{[2
]}

Jin, Guangfu ^{[1
,2
]}

Guo, Xuejiang ^{[1
]}

Sha, Jiahao ^{[1
]}

Dai, Juncheng ^{[2
]}

Hu, Zhibin ^{[1
,2
]}

机构：

[1] Nanjing Med Univ, State Key Lab Reprod Med, Nanjing, Jiangsu, Peoples R China

[2] Nanjing Med Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Nanjing 211166, Jiangsu, Peoples R China

来源：

FERTILITY AND STERILITY | 2017年 / 108卷 / 06期

关键词：

GWAS; NOA; susceptibility; TWAS; TYROSINE PHOSPHATASE SHP2; SPERMATOGENIC FAILURE; TELOMERE HOMEOSTASIS; MALE-INFERTILITY; COMPLEX TRAITS; MALE-FERTILITY; EXPRESSION; HUMANS; MODEL; SIGNATURE;

D O I：

10.1016/j.fertnstert.2017.09.023

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: To investigate the associations between genetically cis-regulated gene expression levels and nonobstructive azoospermia (NOA) susceptibility. Design: Transcriptome-wide association study (TWAS). Setting: Medical university. Interventions: None. Main Outcome Measure(s): The cis-hg2 values for each gene were estimated with GCTA software. The effect sizes of cis-single-nucleotide polymorphisms (SNPs) on gene expression were measured using GEMMA software. Gene expression levels were entered into our existing NOA GWAS cohort using GEMMA software. The TWAS P-values were calculated using logistic regression models. Result(s): Expression levels of 1,296 cis-heritable genes were entered into our existing NOA GWAS data. The TWAS results identified two novel genes as statistically significantly associated with NOA susceptibility: PILRA and ZNF676. In addition, 6p21.32, previously reported in NOA GWAS, was further validated to be a susceptible region to NOA risk. Conclusion(s): Analysis with TWAS provides fruitful targets for follow-up functional studies.

引用

页码：1056 / +

页数：11

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