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Confirmation of linkage to chromosome 1q for spine bone mineral density in southern Chinese

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Abstract

Chromosome 1q has previously been linked to bone mineral density (BMD) variation in the general population in several genome-wide linkage studies in both humans and mouse model. The aim of present study is to replicate and fine map the QTL influencing BMD in chromosome 1q in southern Chinese. Twelve microsatellite markers were genotyped for a 57 cΜ region in the chromosome 1q in 306 southern Chinese families with 1,459 subjects. Each of these families was ascertained through a proband with BMD Z-scores less than −1.3 at the hip or spine. BMD (g/cm2) at the L1-4 lumbar spine, femoral neck (FN), trochanter and total hip was measured by dual-energy X-ray absortiometry. Linkage analyses were performed using the variance component linkage analysis method implemented in Merlin software. Four markers (D1S2878, D1S196, D1S452, and D1S218) achieved a LOD score greater than 1.0 with spine BMD, with the maximum multipoint LOD score of 2.36 at the marker D1S196. We did not detect a LOD score greater than 1.0 for BMD at the FN, trochanter, or total hip in multipoint linkage analyses. Our results present the first evidence for the presence of an osteoporosis susceptibility gene on chromosome 1q in non-Caucasian subjects. Further analyses of candidate genes are warranted to identify QTL genes and variants underlying the variations of BMD in this region.

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Acknowledgments

QY Huang is supported by The KC Wong Education Foundation. The study is supported by the Bone Health Fund, Hong Kong University Foundation, Matching Grant and the Osteoporosis and Endocrine Research Fund, The University of Hong Kong. The authors thank the staff of the Osteoporosis Centre, KS Lau and Wilson Ng, The University of Hong Kong, Queen Mary Hospital, for their assistance in this project.

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Authors and Affiliations

  1. Department of Medicine, The University of Hong Kong, Pokfulam, Hong Kong, China

    Ching-Lung Cheung, Qing-Yang Huang, Mandy Y. M. Ng, Vivian Chan & Annie W. C. Kung

  2. Genome Research Center, The University of Hong Kong, Pokfulam, Hong Kong, China

    Pak C. Sham

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  1. Ching-Lung Cheung
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  2. Qing-Yang Huang
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  3. Mandy Y. M. Ng
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  4. Vivian Chan
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  5. Pak C. Sham
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  6. Annie W. C. Kung
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Corresponding authors

Correspondence to Pak C. Sham or Annie W. C. Kung.

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Cheung, CL., Huang, QY., Ng, M.Y.M. et al. Confirmation of linkage to chromosome 1q for spine bone mineral density in southern Chinese. Hum Genet 120, 354–359 (2006). https://doi.org/10.1007/s00439-006-0220-3

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  • DOI: https://doi.org/10.1007/s00439-006-0220-3

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