Exploration of gene-environment interactions maternal effects and parent-of-origin effects in the etiology of hypospadias

摘要

PurposeHypospadias is a common congenital malformation of the male external genitalia. Association studies for single nucleotide polymorphisms (SNPs) in genes encoding steroid-5-alpha-reductase (SRD5A2), estrogen receptors 1 (ESR1) and 2 (ESR2), and activating transcription factor 3 (ATF3) have been equivocal. The aim of this study was to examine whether non-replication of findings for four SNPs in these genes could be due to interaction with environmental exposures.