Background: The GH secretagogue receptor type 1a gene (GHSR) encodes the cognate receptor of ghrelin, a gut hormone that regulates food intake and pituitary GH secretion. Previous studies in U.S. families and a German population suggested GHSR to be a candidate quantitative locus for association with human obesity and growth.
Aim: The aim of the study was to test common genetic variation in GHSR for association with body size in children and adults.
Methods: Sequencing was performed to systematically identify novel single nucleotide polymorphisms (SNPs) in GHSR. A set of three haplotype-tagging SNPs that captured all the genetic variation in GHSR was identified. These three haplotype-tagging SNPs were then genotyped in three large population-based U.K. cohort studies (two adult and one childhood cohort) comprising 5807 adults and 843 children.
Results: No significant genotype or haplotype associations were found with adult or childhood height, weight, or body mass index.
Conclusion: Common variation in GHSR is not associated with body size in U.K. adults or children.