title: Association of single nucleotide polymorphisms in the promoter region of the pro-opiomelanocortin gene (POMC) with low bone mineral density in adult women.
abstract: Among multiple factors influencing osteoporosis, genetic variations involved in bone-mineral metabolism can affect risks predisposing to the disease onset. Here, we studied single-nucleotide polymorphisms (SNPs) in the pro-opiomelanocortin (POMC) gene for possible association with bone mineral density (BMD) among 384 adult Japanese women and observed significant correlation between adjusted BMD and three SNPs in the promoter region (r>0.14, p<0.01). The most significant correlation was observed for -2353G/A (r=-0.16, p=0.002); homozygous carriers of the major (G) allele had the highest BMD (0.405+/-0.054 g/cm2) while heterozygous carriers were intermediate (0.390+/-0.053 g/cm2) and homozygous A-allele carriers had the lowest BMDs (0.369+/-0.048 g/cm2). Although no association was detected between these SNPs and body weight or body mass index (BMI), significant association was detected between the -2313A/C genotype and plasma total cholesterol level (r=-0.12, p=0.019). We propose that POMC is among the likely susceptibility genes for osteoporosis and may also be involved in dyslipidemia.
authors.affiliation: Department of Molecular Biology, Institute of Gerontology, Nippon Medical School Kawasaki, Kanagawa, Japan.|Department of Orthopaedics, Nippon Medical School, Tokyo, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Sudo
authors.affiliation: Department of Molecular Biology, Institute of Gerontology, Nippon Medical School Kawasaki, Kanagawa, Japan. ezura.mph@mri.tmd.ac.jp.|Department of Molecular Pharmacology Institute of Medical Research, Tokyo Medical and Dental University, 2-3-10 Kanda-Surugadai, Chiyoda-ku, Tokyo, 101-0062, Japan. ezura.mph@mri.tmd.ac.jp.
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Ezura
authors.affiliation: Department of Molecular Biology, Institute of Gerontology, Nippon Medical School Kawasaki, Kanagawa, Japan.
authors.forename: Mitsuko
authors.initials: M
authors.lastname: Kajita
authors.affiliation: Epidemiology and Health Promotion Research Group, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan.
authors.forename: Hideyo
authors.initials: H
authors.lastname: Yoshida
authors.affiliation: Epidemiology and Health Promotion Research Group, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan.
authors.forename: Takao
authors.initials: T
authors.lastname: Suzuki
authors.affiliation: Department of Endocrinology, Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Hosoi
authors.affiliation: Department of Geriatric Medicine, Faculty of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Inoue
authors.affiliation: Research Institute and Practice for Involutional Diseases, Nagano, Japan.
authors.forename: Masataka
authors.initials: M
authors.lastname: Shiraki
authors.affiliation: Department of Orthopaedics, Nippon Medical School, Tokyo, Japan.
authors.forename: Hiromoto
authors.initials: H
authors.lastname: Ito
authors.affiliation: Department of Molecular Biology, Institute of Gerontology, Nippon Medical School Kawasaki, Kanagawa, Japan.
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Emi
mesh_terms: D000328:Adult; D000368:Aged; D015992:Body Mass Index; D001835:Body Weight; D015519:Bone Density / Q000235:genetics*; D002784:Cholesterol / Q000097:blood; D004198:Disease Susceptibility; D005260:Female; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011333:Pro-Opiomelanocortin / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012307:Risk Factors
chemical_list: D011333:Pro-Opiomelanocortin; D002784:Cholesterol