Ghrelin receptor gene polymorphisms and body size in children and adults

Edwin A Garcia, Barbara Heude, Clive J Petry, Maria Gueorguiev, Zaki K Hassan-Smith, Antigoni Spanou, Susan M Ring, David B Dunger, Nicholas Wareham, Manjinder S Sandhu, Ken K Ong, Márta Korbonits

Research output: Contribution to journalArticle (Academic Journal)peer-review

18 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)4158-61
Number of pages4
JournalJournal of Clinical Endocrinology and Metabolism
Issue number10
Publication statusPublished - Oct 2008


  • Adult
  • Aged
  • Body Size
  • Child
  • Child, Preschool
  • Cohort Studies
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genotype
  • Great Britain
  • Humans
  • Infant
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Receptors, Ghrelin

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