The GH receptor exon 3 deleted/full-length polymorphism is associated with central adiposity in the general population release_aten634h2fem3htnetyfvkqcny

by Camilla A M Glad, Lena M S Carlsson, Olle Melander, Peter Almgren, Lars Sjöström, Staffan Nilsson, Ingrid Larsson, Per-Arne Svensson, Gudmundur Johannsson

Published in European Journal of Endocrinology by Bioscientifica.

2015   Volume 172, p123-128

Abstract

<jats:sec><jats:title>Objective</jats:title>To test the hypothesis that the GH receptor (<jats:italic>GHR</jats:italic>) exon 3 deleted (d3)/full-length (fl) polymorphism influences anthropometry and body composition in the general population.</jats:sec><jats:sec><jats:title>Design and setting</jats:title>The Swedish Obese Subjects (SOS) reference study is a cross-sectional population-based study, randomly selected from a population registry. A subgroup of the population-based Malmö Diet and Cancer study (MDC-CC) was used as a replication cohort.</jats:sec><jats:sec><jats:title>Methods</jats:title>The SOS reference study comprises 1135 subjects (46.2% men), with an average age of 49.5 years. The MDC-CC includes 5451 successfully genotyped subjects (41.5% men), with an average age of 57.5 years. <jats:italic>GHR</jats:italic> d3/fl genotypes were determined using TagSNP rs6873545. Linear regression analyses were used to test for genotype–phenotype associations.</jats:sec><jats:sec><jats:title>Results</jats:title>In the SOS reference study, subjects homozygous for the d3-GHR weighed ∼4 kg more (<jats:italic>P</jats:italic>=0.011), and had larger waist-to-hip ratio (WHR, <jats:italic>P</jats:italic>=0.036), larger waist circumference (<jats:italic>P</jats:italic>=0.016), and more fat-free mass estimated from total body potassium (<jats:italic>P</jats:italic>=0.026) than grouped fl/d3 and fl/fl subjects (d3-recessive genetic model). The association with WHR was replicated in the MDC-CC (<jats:italic>P</jats:italic>=0.002), but not those with other anthropometric traits.</jats:sec><jats:sec><jats:title>Conclusions</jats:title>In this population-based study, the <jats:italic>GHR</jats:italic> d3/fl polymorphism was found to be of functional relevance and associated with central adiposity, such that subjects homozygous for the d3-GHR showed an increased abdominal obesity.</jats:sec>
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Type  article-journal
Stage   published
Year   2015
DOI  10.1530/eje-14-0723
PubMed  25391539
Wikidata  Q44300067
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