Abstract
Objective: Toinvestigate the associations between genetically cis-regulated gene expressionlevels and nonobstructive azoospermia (NOA) susceptibility.
Design: Transcriptome-wideassociation study (TWAS).
Setting: Medicaluniversity.
Interventions: None.
Main outcomemeasure(s): The cis-hg2 values for each gene were estimated with GCTAsoftware. The effect sizes of cis-single-nucleotide polymorphisms (SNPs) ongene expression were measured using GEMMA software. Gene expression levels wereentered into our existing NOA GWAS cohort using GEMMA software. The TWASP-values were calculated using logistic regression models.
Result(s): Expressionlevels of 1,296 cis-heritable genes were entered into our existing NOA GWASdata. The TWAS results identified two novel genes as statisticallysignificantly associated with NOA susceptibility: PILRA and ZNF676. In addition,6p21.32, previously reported in NOA GWAS, was further validated to be asusceptible region to NOA risk.
Conclusion(s): Analysiswith TWAS provides fruitful targets for follow-up functional studies.
Keywords: GWAS;NOA; TWAS; susceptibility.
引用本文：
Jiang T, Wang Y, Zhu M, Wang Y, Huang M, Jin G, Guo X, Sha J, Dai J, Hu Z. Transcriptome-wide association study revealed two novel genes associated with nonobstructive azoospermia in a Chinese population. Fertil Steril. 2017 Dec;108(6):1056-1062.e4. doi: 10.1016/j.fertnstert.2017.09.023. PMID: 29202958.
