The Q223R polymorphism in LEPR is associated with obesity in Pacific Islanders

Hum Genet. 2010 Mar;127(3):287-94. doi: 10.1007/s00439-009-0768-9.

Abstract

Various Pacific Island populations have experienced a marked increase in the prevalence of obesity in past decades. This study examined the association of a promoter polymorphism of the leptin gene (LEP), G-2548A (rs7799039), and two non-synonymous single nucleotide polymorphisms of the leptin receptor gene (LEPR), K109R (rs1137100) and Q223R (rs1137101), with body weight, body mass index (BMI) and obesity (BMI > or = 30) in Pacific Islanders. A total of 745 Austronesian (AN)-speaking participants were analyzed after adjusting for age, gender, and population differences. The results revealed that carriers of the 223Q alleles of LEPR had significantly higher body weight (P = 0.0009) and BMI (P = 0.0022) than non-carriers (i.e., 223R homozygotes); furthermore, the 223Q carriers also had a signiWcantly higher risk of obesity in comparison to non-carriers (P = 0.0222). The other two polymorphisms, G-2548A and K109R, were associated with neither body weight, BMI, nor obesity. The 223Q allele was widely found among the AN-speaking study subjects, thus suggesting that the LEPR Q223R polymorphism is one of the factors contributing to the high prevalence of obesity in the Pacific Island populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amino Acid Substitution / genetics
  • Arginine / genetics
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Linkage
  • Genetics, Population
  • Glutamic Acid / genetics
  • Humans
  • Male
  • Middle Aged
  • Obesity / epidemiology
  • Obesity / genetics*
  • Pacific Islands / epidemiology
  • Polymorphism, Single Nucleotide* / physiology
  • Prevalence
  • Receptors, Leptin / genetics*
  • Young Adult

Substances

  • LEPR protein, human
  • Receptors, Leptin
  • Glutamic Acid
  • Arginine