• PMID: 29202958
• Gene Name: PILRA
• Condition: Non-obstructive azoospermia, Male infertility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Non-obstructive azoospermia, Male infertility

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

Jiang T, Wang Y, Zhu M, Wang Y, Huang M, Jin G, Guo X, Sha J, Dai J, Hu Z.

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-hg(2) 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. CI - Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. FAU - Jiang, Tingting AU - Jiang T AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, People's Republic of China; Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, People's Republic of China. FAU - Wang, Yuzhuo AU - Wang Y AD - Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, People's Republic of China. FAU - Zhu, Meng AU - Zhu M AD - Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, People's Republic of China. FAU - Wang, Yifeng AU - Wang Y AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, People's Republic of China; Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, People's Republic of China. FAU - Huang, Mingtao AU - Huang M AD - Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, People's Republic of China. FAU - Jin, Guangfu AU - Jin G AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, People's Republic of China; Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, People's Republic of China. FAU - Guo, Xuejiang AU - Guo X AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, People's Republic of China. FAU - Sha, Jiahao AU - Sha J AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, People's Republic of China. FAU - Dai, Juncheng AU - Dai J AD - Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, People's Republic of China.