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Association of amino acid variation (Trp64Arg) in the beta3‐adrenergic receptor gene with bone mineral density
Author(s) -
Ogawa Sumito,
Emi Mitsuru,
Shiraki Masataka,
Hosoi Takayuki,
Orimo Hajime,
Ouchi Yasuyoshi,
Inoue Satoshi
Publication year - 2002
Publication title -
geriatrics and gerontology international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.823
H-Index - 57
eISSN - 1447-0594
pISSN - 1444-1586
DOI - 10.1046/j.1444-1586.2002.00037.x
Subject(s) - medicine , endocrinology , bone mineral , osteoporosis , single nucleotide polymorphism , genotype , allele , bone density , insulin resistance , cohort , diabetes mellitus , gene , genetics , biology
Background: Recent studies have revealed that a mis‐sense mutation replacing tryptophan with arginine at codon 64 (Trp64Arg) of the beta3‐adrenergic receptor ( β3‐AR ) gene was associated with insulin resistance in non‐diabetic subjects and to earlier onset of non‐insulin dependent diabetes mellitus. To analyze a possible involvement of β3‐AR in bone metabolism, we investigated the association between bone mineral density (BMD) and the Trp64Arg polymorphism. Methods: A large cohort of Japanese postmenopausal women comprised the study population. The genotypic frequencies in this cohort were Trp/Trp, 61.8%; Trp/Arg, 33.2%; and Arg/Arg, 5.0%. Results: When the subjects were separated into two groups, one bearing at least one Trp allele at codon 64 (Trp/Trp and Trp/Arg) and the other with none (Arg/Arg), the former subjects had significantly higher Z scores for total‐body BMD (mean ± SD, 0.432 ± 0.93 versus −0.135 ± 0.93; P = 0.033). Conclusions: These data suggested an association between this single‐nucleotide polymorphism (SNP) in the β3‐AR gene and BMD, and therefore a possible involvement of the Arg allele (or the absence of Trp64) in postmenopausal osteoporosis among Japanese women.