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Eur J Endocrinol. 2015 Feb;172(2):123-8. doi: 10.1530/EJE-14-0723. Epub 2014 Nov 12.

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

Author information

1
Departments of EndocrinologyMolecular and Clinical MedicineInstitute of Medicine, The Sahlgrenska Academy, Sahlgrenska University Hospital, University of Gothenburg, Vita Stråket 15, SE-413 45 Gothenburg, SwedenDepartment of Clinical SciencesLund University, Malmö, SwedenDepartment of Mathematical StatisticsChalmers University of Technology, Gothenburg, SwedenDepartment of EndocrinologyDiabetology and Metabolism, Sahlgrenska University Hospital, Gothenburg, Sweden camilla.glad@medic.gu.se.
2
Departments of EndocrinologyMolecular and Clinical MedicineInstitute of Medicine, The Sahlgrenska Academy, Sahlgrenska University Hospital, University of Gothenburg, Vita Stråket 15, SE-413 45 Gothenburg, SwedenDepartment of Clinical SciencesLund University, Malmö, SwedenDepartment of Mathematical StatisticsChalmers University of Technology, Gothenburg, SwedenDepartment of EndocrinologyDiabetology and Metabolism, Sahlgrenska University Hospital, Gothenburg, Sweden.

Abstract

OBJECTIVE:

To test the hypothesis that the GH receptor (GHR) exon 3 deleted (d3)/full-length (fl) polymorphism influences anthropometry and body composition in the general population.

DESIGN AND SETTING:

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.

METHODS:

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. GHR d3/fl genotypes were determined using TagSNP rs6873545. Linear regression analyses were used to test for genotype-phenotype associations.

RESULTS:

In the SOS reference study, subjects homozygous for the d3-GHR weighed ∼4 kg more (P=0.011), and had larger waist-to-hip ratio (WHR, P=0.036), larger waist circumference (P=0.016), and more fat-free mass estimated from total body potassium (P=0.026) than grouped fl/d3 and fl/fl subjects (d3-recessive genetic model). The association with WHR was replicated in the MDC-CC (P=0.002), but not those with other anthropometric traits.

CONCLUSIONS:

In this population-based study, the GHR 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.

PMID:
25391539
DOI:
10.1530/EJE-14-0723
[Indexed for MEDLINE]

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