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

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. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

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