Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity

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  • Anette P. Gjesing
  • Lesli Hingstrup Larsen
  • Irena Aldhoon Hainerová
  • Rahul Kapur
  • Anders Johansen
  • Sylvia Boj
  • Angela Harper
  • Søren A. Urhammer
  • Knut Borch-Johnsen
  • Søren M Echwald
  • Jan Lebl
  • Jorge Ferrer
  • Torben Hansen
BACKGROUND: The growth hormone secretagogue receptor (GHSR) is mediating hunger sensation when stimulated by its natural ligand ghrelin. In the present study, we tested the hypothesis that common and rare variation in the GHSR locus are related to increased prevalence of obesity and overweight among Whites. METHODOLOGY/PRINCIPAL FINDINGS: In a population-based study sample of 15,854 unrelated, middle-aged Danes, seven variants were genotyped to capture common variation in an 11 kbp region including GHSR. These were investigated for their individual and haplotypic association with obesity. None of these analyses revealed consistent association with measures of obesity. A -151C/T promoter mutation in the GHSR was found in two unrelated obese patients. One family presented with complete co-segregation, but the other with incomplete co-segregation. The mutation resulted in an increased transcriptional activity (p<0.02) (mean (p -151c -4 -5 0.01%. 15,854 27+ 28+ a allele and association binding bmi: carriers danes extracts for frequency genotyped in introduction kg m(2)) minor mutation no non-carriers nuclear obesity of relative sp-1-like specific t the to type. versus was wild with>0.05) could be shown. CONCLUSIONS/SIGNIFICANCE: In a population-based study sample of 15,854 Danes no association between GHSR genotypes and measures of obesity and overweight was found. Also, analyses of GHSR haplotypes lack consistent associations with obesity related traits. A rare functional GHSR promoter mutation variant was identified, yet there was no consistent relationship with obesity in neither family- nor population-based studies.
TidsskriftP L o S One
Udgave nummer4
Antal sider8
StatusUdgivet - 2010

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Paper id:: e10084

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