DNA Polymorphisms in the α2‐ and β2 Adrenoceptor Genes and Regional Fat Distribution in Humans: Association and Linkage Studies

Abstract

The aim of this study was to investigate the relationships between DNA restriction fragment length polymorphisms (RFLP) in the α₂- and β₂-adrenoceptor genes and body fat distribution in humans. Skinfold thickness measurements and genetic analyses (Southern blot) were performed on 280 individuals (142 parents and 138 offsprings) from the Québec Family Study. Using the association study design in unrelated adults, women but not men carrying the 6.3-kb allele of an α_2A-adrenoceptor/DraI RFLP had a significantly higher trunk to extremity skinfold ratio (= sum of subscapular + suprailiac + abdominal skinfolddsum of biceps + triceps + medial calf skinfolds) compared to women without the allele (1.44 ± 0.52 vs. 1.12 ± 0.33; p2A-adrenoceptor gene variability detected with DraI is associated with a relative subcutaneous fat pattern favoring accumulation of truncal-abdominal fat in women, and that the α_2A-adrenoceptogr ene, or a locus in close proximity, may be linked to body fat distribution in humans independently of the overall level of fatness.