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Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes

Lookup NU author(s): Professor Mark Walker


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Context: Recently, a quantitative trait locus for stature was reported on chromosome 3p26 in patients with type 2 diabetes. Objective: Given that ghrelin is a peptide involved in GH release and located on 3p26, we hypothesized that variation within its gene (GHRL) may be responsible for the quantitative trait locus on 3p26. Design: The evidence for linkage around GHRL was refined with the genotyping of an additional four microsatellites (D3S4545, D3S1537, D3S1597, and D3S3611), giving a total of 27 markers, followed by multipoint variance components linkage analysis. Probands from the linkage families were typed for five common single nucleotide polymorphisms (SNPs) within GHRL and tested for association with adult stature using haplotype trend regression. Results: The maximum multipoint evidence for linkage between adult stature and the 27 microsatellites yielded an LOD score of 2.58 (P = 0.0003) between D3S1297 and D3S1304. Five common (frequency of ≥5%) SNPs were typed in the probands [two promoter SNPs (rs27647 and rs26802), two exonic (rs696217 and rs4684677), and one intronic (rs35683)] capturing 80% of the total common variation in GHRL. No association was found between any SNP (or haplotypes thereof) and adult stature. Conclusion: Common genetic variation within GHRL is not responsible for variation in adult stature in this population. Copyright © 2007 by The Endocrine Society.

Publication metadata

Author(s): Gueorguiev M, Wiltshire S, Garcia EA, Mein C, Lecoeur C, Kristen B, Allotey R, Hattersley AT, Walker M, O'Rahilly S, Froguel P, Grossman AB, McCarthy MI, Hitman GA, Korbonits M

Publication type: Article

Publication status: Published

Journal: Journal of Clinical Endocrinology and Metabolism

Year: 2007

Volume: 92

Issue: 6

Pages: 2201-2204

ISSN (print): 0021-972X

ISSN (electronic): 1945-7197

Publisher: The Endocrine Society


DOI: 10.1210/jc.2006-2657

PubMed id: 17389697


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Funder referenceFunder name
Wellcome Trust
G0100103Medical Research Council