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.
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Acknowledgements
This work was supported in part by a special grant for Strategic Advanced Research on "Cancer" and "Genome Science" from the Ministry of Education, Science, Sports and Culture of Japan, by a Research Grant for Research from the Ministry of Health and Welfare of Japan, and by a Research for the Future Program Grant of The Japan Society for the Promotion of Science.
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Omasu, F., Ezura, Y., Kajita, M. et al. 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. J Hum Genet 48, 342–345 (2003). https://doi.org/10.1007/s10038-003-0035-1
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DOI: https://doi.org/10.1007/s10038-003-0035-1
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