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.
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Acknowledgements
We thank Mina Kodaira, Miho Kawagoe, and Naoko Tsuruta for their expert technical assistance. This work was supported by a grant for Strategic Research 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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Sudo, Y., Ezura, Y., Kajita, M. et al. Association of single nucleotide polymorphisms in the promoter region of the pro-opiomelanocortin gene (POMC) with low bone mineral density in adult women. J Hum Genet 50, 235–240 (2005). https://doi.org/10.1007/s10038-005-0244-x
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DOI: https://doi.org/10.1007/s10038-005-0244-x
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