title: A missense variant, rs373863828-A (p.Arg457Gln), of CREBRF and body mass index in Oceanic populations.
abstract: It has been suggested that a 'thrifty' genotype hypothesis can account for high prevalence of obesity in the island populations of Oceania. A recent genome-wide association study revealed that a missense variant, rs373863828-A (p.Arg457Gln), of the CREBRF gene (encoding CREB3 regulatory factor) was associated with an excessive increase in body mass index (BMI) in Samoans. In the present study, the association of rs373863828-A with an increase in BMI was examined in four Austronesian (AN)-speaking populations in Oceania. We found that rs373863828-A was frequently observed (frequency of 0.15) in Tongans (Polynesians), and was strongly associated with higher BMI (P=6.1 × 10-4). A single copy of the rs373863828-A allele increased BMI by 3.09 kg m-2after adjustment of age and sex. No significant association was detected in the other three AN-speaking populations (Melanesians and Micronesians) living in Solomon Islands. This was probably due to the low allele frequency (0.02-0.06) of rs373863828-A as well as small sample size. The rs373863828-A allele was not found in both AN-speaking and non-AN-speaking Melanesians living in Papua New Guinea. Our results suggest that rs373863828-A of CREBRF, a promising thrifty variant, arose in recent ancestors of AN-speaking Polynesians.
authors.affiliation: Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Izumi
authors.initials: I
authors.lastname: Naka
authors.affiliation: Graduate School of Asian and African Area Studies, Kyoto University, Kyoto, Japan.
authors.forename: Takuro
authors.initials: T
authors.lastname: Furusawa
authors.affiliation: Department of Human Biology and Anatomy, Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan.
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Kimura
authors.affiliation: Faculty of Nursing, The Japanese Red Cross Akita College of Nursing, Akita, Japan.
authors.forename: Kazumi
authors.initials: K
authors.lastname: Natsuhara
authors.affiliation: Faculty of Health Science, Hokkaido University, Hokkaido, Japan.
authors.forename: Taro
authors.initials: T
authors.lastname: Yamauchi
authors.affiliation: Graduate School of Health Sciences, Kobe University, Hyogo, Japan.
authors.forename: Minato
authors.initials: M
authors.lastname: Nakazawa
authors.affiliation: School of Policy Studies, Kwansei Gakuin University, Hyogo, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Ataka
authors.affiliation: Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Takafumi
authors.initials: T
authors.lastname: Ishida
authors.affiliation: Department of Human Ecology, Faculty of Agriculture, Saga University, Saga, Japan.
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Inaoka
authors.affiliation: Faculty of Health and Nutrition, Bunkyo University, Kanagawa, Japan.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Matsumura
authors.affiliation: Japan Wildlife Research Center, Tokyo, Japan.
authors.forename: Ryutaro
authors.initials: R
authors.lastname: Ohtsuka
authors.affiliation: Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Ohashi
mesh_terms: D005260:Female; D006801:Humans; D008297:Male; D000483:Alleles; D019943:Amino Acid Substitution; D015992:Body Mass Index; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D005843:Geography; D020125:Mutation, Missense; D009765:Obesity / Q000235:genetics; D044349:Oceania / Q000208:ethnology; D020641:Polymorphism, Single Nucleotide; D019655:Quantitative Trait, Heritable; D025521:Tumor Suppressor Proteins / Q000235:genetics; D000094862:Oceanians / Q000235:genetics
chemical_list: C000617553:CREB3 regulatory factor, human; D025521:Tumor Suppressor Proteins