The role of genetic variation in DGKK on moderate and severe hypospadias.

ABSTRACT:

Background

Recent genome-wide association studies of hypospadias have implicated the role of genetic variants in or near the diacylglycerol kinase kappa (DGKK) gene. However, these variants are largely identified among samples of mild and moderate hypospadias cases. Therefore, we evaluated previously identified DGKK variants among second- and third-degree hypospadias cases and controls recruited in Arkansas, a state characterized by a high birth prevalence of hypospadias.

Methods

Second- and third-degree hypospadias non-Hispanic white cases (n = 36 and n = 9, respectively) and controls (n = 45) were recruited at Arkansas Children's Hospital. Preputial tissue was collected on cases and controls between 2013 and 2017. Cases and controls were genotyped using the Illumina Infini

SUBMITTER: Richard MA 

PROVIDER: S-EPMC8084115 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature