Original Investigation

Human Genetics

, Volume 127, Issue 3, pp 287-294

First online:

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

  • Takuro FurusawaAffiliated withAsian Studies Network (ASNET), Division for International Relations, The University of Tokyo Email author 
  • , Izumi NakaAffiliated withDoctoral Program in Life System Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba
  • , Taro YamauchiAffiliated withGraduate School of Health Sciences, Hokkaido University
  • , Kazumi NatsuharaAffiliated withSchool of Nursing, Fukuoka Prefectural University
  • , Ryosuke KimuraAffiliated withTransdisciplinary Research Organization for Subtropical and Island Studies (TRO-SIS), University of the Ryukyus
  • , Minato NakazawaAffiliated withDepartment of Public Health, Graduate School of Medical Sciences, Gunma University
  • , Takafumi IshidaAffiliated withDepartment of Biological Sciences, Graduate School of Science, The University of Tokyo
  • , Tsukasa InaokaAffiliated withDepartment of Human Ecology, Faculty of Agriculture, Saga University
  • , Yasuhiro MatsumuraAffiliated withFaculty of Health Care, Kiryu University
    • , Yuji AtakaAffiliated withSchool of Policy Studies, Kwansei Gakuin University
    • , Nao NishidaAffiliated withDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo
    • , Naoyuki TsuchiyaAffiliated withDoctoral Program in Life System Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba
    • , Ryutaro OhtsukaAffiliated withJapan Wildlife Research Center
    • , Jun OhashiAffiliated withDoctoral Program in Life System Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba Email author 

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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 ≥ 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 significantly 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.