@article{glad_carlsson_melander_almgren_sjöström_nilsson_larsson_svensson_johannsson_2015, 
  title={The GH receptor exon 3 deleted/full-length polymorphism is associated with central adiposity in the general population}, 
  volume={172}, 
  DOI={10.1530/eje-14-0723}, 
  abstractNote={<jats:sec><jats:title>Objective</jats:title><jats:p>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:p></jats:sec><jats:sec><jats:title>Design and setting</jats:title><jats:p>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:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>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:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>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:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>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:p></jats:sec>}, 
  publisher={Bioscientifica}, 
  author={Glad and Carlsson and Melander and Almgren and Sjöström and Nilsson and Larsson and Svensson and Johannsson}, 
  year={2015}
  }