Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.

ABSTRACT:

Purpose

Based on a genome-wide association study of testicular dysgenesis syndrome showing a possible association with TGFBR3, we analyzed data from a larger, phenotypically restricted cryptorchidism population for potential replication of this signal.

Materials and methods

We excluded samples based on strict quality control criteria, leaving 844 cases and 2,718 controls of European ancestry that were analyzed in 2 separate groups based on genotyping platform (ie Illumina® HumanHap550, version 1 or 3, or Human610-Quad, version 1 BeadChip in group 1 and Human OmniExpress 12, version 1 BeadChip platform in group 2). Analyses included genotype imputation at the TGFBR3 locus, association analysis of imputed data with correction for population substructure, subsequent meta-analys

SUBMITTER: Barthold JS 

PROVIDER: S-EPMC4406821 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature