Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia.

ABSTRACT: Background: Non-obstructive azoospermia (NOA) affects nearly 1% of men; however, the landscape of the causative genes is largely unknown. Objective: To explore the genetic etiology which is the fundamental cause of NOA, a prospective case-control study and parental-proband trio linkage analysis were performed. Materials: A total of 133 patients with clinicopathological NOA and 343 fertile controls were recruited from a single large academic fertility center located in Northeast China; in addition, eleven trio families were available and enrolled. Results: Whole exome sequencing-based rare variant association study between the cases and controls was performed using the gene burden association testing. Linkage analysis on the trio families was also interrogated. I

SUBMITTER: Zhang H 

PROVIDER: S-EPMC9043847 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature