1. Transcriptome-wide association study revealed two novel genes associated with nonobstructive azoospermia in a Chinese population.
- Author
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Jiang, Tingting, Wang, Yuzhuo, Zhu, Meng, Wang, Yifeng, Huang, Mingtao, Jin, Guangfu, Guo, Xuejiang, Sha, Jiahao, Dai, Juncheng, and Hu, Zhibin
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ASIANS , *CELL receptors , *DATABASES , *DISEASE susceptibility , *FERTILITY , *GENETIC polymorphisms , *GENETIC techniques , *INFERTILITY , *PHENOTYPES , *DNA-binding proteins , *LOGISTIC regression analysis , *BIOINFORMATICS , *CASE-control method , *MEMBRANE glycoproteins , *GENE expression profiling , *ODDS ratio , *DIAGNOSIS - Abstract
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. [ABSTRACT FROM AUTHOR]- Published
- 2017
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