GH secretagogue receptor gene polymorphisms are associated with stature throughout childhood

Riedl, Stefan, Hughes, Ian, Harris, Mark, Leong, Gary M., Beilby, John, Sly, Peter and Choong, Catherine S. (2012) GH secretagogue receptor gene polymorphisms are associated with stature throughout childhood. European Journal of Endocrinology, 166 6: 1079-1085. doi:10.1530/EJE-11-1112

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Author Riedl, Stefan
Hughes, Ian
Harris, Mark
Leong, Gary M.
Beilby, John
Sly, Peter
Choong, Catherine S.
Title GH secretagogue receptor gene polymorphisms are associated with stature throughout childhood
Journal name European Journal of Endocrinology   Check publisher's open access policy
ISSN 0804-4643
Publication date 2012-06
Sub-type Article (original research)
DOI 10.1530/EJE-11-1112
Volume 166
Issue 6
Start page 1079
End page 1085
Total pages 7
Place of publication Bristol, United Kingdom
Publisher BioScientifica
Collection year 2013
Language eng
Formatted abstract
Context Ghrelin plays a major role in GH physiology and energy metabolism. Polymorphisms of its receptor (GH secretagogue receptor (GHSR)) may influence childhood growth and weight regulation.
Objective To correlate GHSR polymorphisms with auxological parameters throughout childhood in a healthy cohort.
Study design Longitudinal retrospective population-based genetic association study.
Subjects and methods GHSR genotypes were evaluated in 1362 children and compared with height/length, weight, and body mass index (BMI) data across an observation span of 10 years (0, 1, 3, 5, 8, and 10 years). Five different GHSR SNPs (rs2922126, rs2981464, rs482204, rs562416, and rs572169), minor allele frequency >0.1, were genotyped. Identification of potential genetic associations with height, weight, and BMI, using additive and dominant/recessive models, was optimized by comparing allele or genotype frequencies between the tallest and the shortest 27% of subjects for each auxological variable. Significance of association was evaluated by χ2 test.
Results The rs482204 TT genotype, vs TC/CC, was associated with greater stature across the entire observation period (P<0.05). Similarly, the rs562416 TT genotype, vs TG/GG, correlated positively with tall stature at 3, 8, and 10 years. Other SNPs and genotypes showed no association with height at any age. No association was found between any tested SNPs and weight or BMI.
Conclusions Longitudinal investigation between birth and 10 years in a population-based cohort revealed a significant association of the rs482204 and rs562416 GHSR polymorphisms on height, whereas no association between GHSR polymorphisms and weight or BMI was ascertainable.

Keyword Single nucleotide polymorphisms
Growth hormone release
Ghrelin receptor
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

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