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Thread: Ethnic Difference of Bone Mass

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    Post Ethnic Difference of Bone Mass

    Differentiation of Caucasians and Chinese at Bone Mass Candidate Genes: Implication for Ethnic Difference of Bone Mass
    V. Dvornyk1, X.-H. Liu2, H. Shen1, S.-F. Lei2, L.-J. Zhao1, Q.-R. Huang3, Y.-J. Qin3, D.-K. Jiang2, J.-R. Long1, Y.-Y. Zhang1, G. Gong1, R. R. Recker1 and H.-W. Deng1,2

    Summary

    Bone mineral density (BMD) is an important risk factor for osteoporosis and has strong genetic determination. While average BMD differs among major ethnic groups, several important candidate genes have been shown to underlie BMD variation within populations of the same ethnicity. To investigate whether important candidate genes may contribute to ethnic differences in BMD, we studied the degree of genetic differentiation among several important candidate genes between two major ethnic groups: Caucasians and Chinese. The genetic variability of these two populations (1131 randomly selected individuals) was studied at six restriction sites exhibiting polymorphisms of five important candidate genes for BMD: the BsaHI polymorphism of the calcium-sensing receptor (CASR) gene, the SacI polymorphism of the 2HS-glycoprotein (AHSG) gene, the PvuII and XbaI polymorphisms of the estrogen receptor (ESR1) gene, the ApaI polymorphism of the vitamin D receptor (VDR) gene, and the BstBI polymorphism of the parathyroid hormone (PTH) gene. The two ethnic groups showed significant allelic and genotypic differentiation of all the polymorphisms studied. The mean FST was 0.103, which significantly differed from zero (P< 0.01). The Chinese population had lower mean heterozygosity (0.331) than the Caucasian one (0.444); the CASR-BsaHI and PTH-BstBI polymorphisms contributed most significantly to this difference. Analysis of the intra- and inter-population variability suggests that various types of natural selection may affect the observed patterns of variation at some loci. If some of the candidate genes we studied indeed underlie variation in BMD, their population differentiation revealed here between ethnic groups may contribute to understanding ethnic difference in BMD.

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    Post Re: Ethnic Difference of Bone Mass

    Complex segregation analyses of bone mineral density in Chinese
    P. Y. Liu1,2, Y. J. Qin3, Q. Zhou3, R. R. Recker2 and H. W. Deng1,2,*
    Summary

    China has the largest population in the world; approximately 7% of the total population suffers from primary osteoporosis. Osteoporosis is mainly characterized by low bone mineral density (BMD). In the present study, familial correlation and segregation analyses for spine and hip BMDs have been undertaken for the first time in a Chinese sample composed of 401 nuclear families with a total of 1,260 individuals. The results indicate a major gene of additive inheritance for hip BMD, whereas there is no evidence of a major gene influencing spine BMD. Significant familial residual effects are found for both traits, and heritability estimates (±SE) for spine and hip BMDs are 0.807(0.099) and 0.897(0.101), respectively. Sex and age differences in genotype-specific average BMD are also observed. This study provides the first evidence quantifying the high degree of genetic determination of BMD variation in the Chinese.

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