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

Transcriptome-wide association study analysis identified two potentially functional genes significantly associated with nonobstructive azoospermia susceptibility: PILRA and ZNF676.

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Volume 108, Issue 6, Pages 1056–1062.e4


Tingting Jiang, M.D., Yuzhuo Wang, M.D., Meng Zhu, M.D., Yifeng Wang, M.D., Mingtao Huang, M.D., Guangfu Jin, Ph.D., Xuejiang Guo, Ph.D., Jiahao Sha, Ph.D., Juncheng Dai, Ph.D., Zhibin Hu, Ph.D.



To investigate the associations between genetically cis-regulated gene expression levels and nonobstructive azoospermia (NOA) susceptibility.


Transcriptome-wide association study (TWAS).


Medical university.



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.


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.


Analysis with TWAS provides fruitful targets for follow-up functional studies.

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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders.