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Differentiation of Caucasians and Chinese at Bone Mass Candidate Genes: Implication for Ethnic Difference of Bone Mass
Author(s) -
Dvornyk V.,
Liu X.H.,
Shen H.,
Lei S.F.,
Zhao L.J.,
Huang Q.R.,
Qin Y.J.,
Jiang D.K.,
Long J.R.,
Zhang Y.Y.,
Gong G.,
Recker R. R.,
Deng H.W.
Publication year - 2003
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1046/j.1469-1809.2003.00037.x
Subject(s) - calcitriol receptor , candidate gene , biology , genetics , allele , population , bone mineral , polymorphism (computer science) , genotype , genetic variation , endocrinology , genetic variability , medicine , osteoporosis , gene , environmental health
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 Bsa HI polymorphism of the calcium‐sensing receptor ( CASR ) gene, the Sac I polymorphism of the α 2 HS‐glycoprotein (AHSG) gene, the Pvu II and Xba I polymorphisms of the estrogen receptor α ( ESR1 ) gene, the Apa I polymorphism of the vitamin D receptor ( VDR ) gene, and the Bst BI polymorphism of the parathyroid hormone ( PTH ) gene. The two ethnic groups showed significant allelic and genotypic differentiation of all the polymorphisms studied. The mean F ST 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 ‐ Bsa HI and PTH ‐ Bst BI 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.