Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.

ABSTRACT:

Importance

Infantile hypertrophic pyloric stenosis (IHPS) is a serious condition in which hypertrophy of the pyloric sphincter muscle layer leads to gastric outlet obstruction. Infantile hypertrophic pyloric stenosis shows strong familial aggregation and heritability, but knowledge about specific genetic risk variants is limited.

Objectives

To search the genome comprehensively for genetic associations with IHPS and validate findings in 3 independent sample sets.

Design, setting, and participants

During stage 1, we used reference data from the 1000 Genomes Project for imputation into a genome-wide data set of 1001 Danish surgery-confirmed samples (cases diagnosed 1987-2008) and 2371 disease-free controls. In stage 2, the 5 most significantly associated loci were tested

SUBMITTER: Feenstra B 

PROVIDER: S-EPMC4031654 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature