Genome-Wide Association Screening Determines Peripheral Players in Male Fertility Maintenance.

ABSTRACT: Deciphering the functional relationships of genes resulting from genome-wide screens for polymorphisms that are associated with phenotypic variations can be challenging. However, given the common association with certain phenotypes, a functional link should exist. We have tested this prediction in newly sequenced exomes of altogether 100 men representing different states of fertility. Fertile subjects presented with normal semen parameters and had naturally fathered offspring. In contrast, infertile probands were involuntarily childless and had reduced sperm quantity and quality. Genome-wide association study (GWAS) linked twelve non-synonymous single-nucleotide polymorphisms (SNPs) to fertility variation between both cohorts. The SNPs localized to nine genes for which previous evidence is

SUBMITTER: Greither T 

PROVIDER: S-EPMC9820667 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature