Diacylglycerol kinase K variants impact hypospadias in a California study population.

ABSTRACT:

Purpose

A recent genome wide association study demonstrated the novel finding that variants in DGKK are associated with hypospadias. Our objectives were to determine whether this finding could be replicated in a more racially/ethnically diverse study population of California births and to provide a more comprehensive investigation of variants.

Materials and methods

We examined the association of 27 DGKK single nucleotide polymorphisms with hypospadias relative to population based nonmalformed controls born in selected California counties from 1990 to 2003. Analyses included a maximum of 928 controls and 665 cases (mild in 91, moderate in 336, severe in 221 and undetermined in 17). Results for mild and moderate cases were similar, so they were grouped together.

Results

SUBMITTER: Carmichael SL 

PROVIDER: S-EPMC3973486 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature