Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.

ABSTRACT:

Background

The genetic background of Growth Hormone (GH) secretion is not well understood. Mutations giving rise to a stop codon have a high likelihood of affecting protein function.

Objectives

To analyze likely functional stop codon mutations that are associated with fasting plasma concentration of Growth Hormone.

Methods

We analyzed stop codon mutations in 5451 individuals in the Malmö Diet and Cancer study by genotyping the Illumina Exome Chip. To enrich for stop codon mutations with likely functional effects on protein function, we focused on those disrupting >80% of the predicted amino acid sequence, which were carried by ≥ 10 individuals. Such mutations were related to GH concentration, measured with a high sensitivity assay (hs-GH) and, if nominally significant

SUBMITTER: Hallengren E 

PROVIDER: S-EPMC4472854 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature