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Heterogeneous genetic associations of nucleotide sequence variants with bone mineral density by gender

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Abstract

We examined genetic associations of previously identified sequence variants with bone mineral density and their heterogeneity by gender. Large-scale cohort data were used including a total of 8,419 subjects (4,034 males and 4,385 females) from the Korean Association REsource (KARE) cohort. Bone speed of sound (SOS) values were measured at distal radius or mid-shaft tibia by quantitative ultrasound. Genotypic associations of SOS were tested with each of nucleotide sequence variants identified by previous studies. The genetic association analysis revealed that 2 out of 11 nucleotide sequence variants were associated with SOS (rs1721400, rs7776725, P < 7.58 × 10−4). Further analysis with partitioning data by gender showed that the mid-shaft tibia phenotypes were associated with the rs1721400 and rs7776725 in females (P < 3.79 × 10−4), but not in males (P > 3.79 × 10−4). The current study suggested female-specific associations of rs1721400 and rs7776725 with bone mineral density and heterogeneity of genetic association by skeletal site measured for bone mineral density.

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Acknowledgments

This study was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science, and Technology (Grant No. 2009-0071063). We would like to thank the National Institute of Health, Korea for providing the genotypic and epidemiological data to the KARE Analysis Consortium.

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  1. School of Systems Biomedical Science, Soongsil University, Seoul, Korea

    Jiyoung Woo, Younyoung Kim & Chaeyoung Lee

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  1. Jiyoung Woo
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  2. Younyoung Kim
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  3. Chaeyoung Lee
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Correspondence to Chaeyoung Lee.

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Woo, J., Kim, Y. & Lee, C. Heterogeneous genetic associations of nucleotide sequence variants with bone mineral density by gender. Mol Biol Rep 39, 2259–2265 (2012). https://doi.org/10.1007/s11033-011-0975-z

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  • DOI: https://doi.org/10.1007/s11033-011-0975-z

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