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Association of genetic variation of the RIL gene,encoding a PDZ-LIM domain protein and localized in 5q31.1, with low bone mineral density in adult Japanese women
Authors:Omasu Fumihiro  Ezura Yoichi  Kajita Mitsuko  Ishida Ryota  Kodaira Mina  Yoshida Hideo  Suzuki Takao  Hosoi Takayuki  Inoue Satoshi  Shiraki Masataka  Orimo Hajime  Emi Mitsuru
Affiliation:(1) Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan;(2) Tokyo Metropolitan Institute of Gerontology and Geriatric Hospital, Tokyo, Japan;(3) Department of Geriatric Medicine, Faculty of Medicine, University of Tokyo, Tokyo, Japan;(4) Research Institute and Practice for Involutional Diseases, Nagano, Japan
Abstract:Twin and family studies had shown that genetic factors are important determinants of bone mass. Multiple genes might be involved. One candidate gene, the reversion-induced LIM gene (RIL), is a PDZ and LIM-domain-containing protein and has been localized within the cytokine cluster of chromosome 5 (5q31.1). In a genetic study of 370 adult Japanese women, we investigated the correlation between radial bone mineral density (BMD) and a genetic variation (−3333T→C) of the 5'-flanking region of RIL gene. A significant association was identified between the RIL variation −3333T→C and radial BMD (r=0.15, P=0.003). The variation of the RIL locus may be an important determinant of osteoporosis.
Keywords:Single-nucleotide polymorphism   RIL   Bone mineral density  Association study
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