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Published on: May 27, 2022
Transcriptome-wide association study revealed two novel genes associated with nonobstructive azoospermia in a Chinese
Tingting Jiang1, Yuzhuo Wang2, Meng Zhu2
1State 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.
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.
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