Differentiation of Caucasians and Chinese at bone mass candidate genes

Implication for ethnic difference of bone mass

V. Dvornyk, X. H. Liu, H. Shen, S. F. Lei, L. J. Zhao, Q. R. Huang, Y. J. Qin, D. K. Jiang, J. R. Long, Y. Y. Zhang, G. Gong, Robert R. Recker, Hong Wen Deng

Research output: Contribution to journalArticle

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Abstract

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 α2HS-glycoprotein (AHSG) gene, the PvuII and XbaI polymorphisms of the estrogen receptor α (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.

Original languageEnglish
Pages (from-to)216-227
Number of pages12
JournalAnnals of Human Genetics
Volume67
Issue number3
DOIs
StatePublished - May 2003

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Bone Density
Bone and Bones
Genes
Ethnic Groups
Population
Calcium-Sensing Receptors
Parathyroid Hormone
Calcitriol Receptors
Genetic Selection
Estrogen Receptors
Osteoporosis
Glycoproteins

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics

Cite this

Differentiation of Caucasians and Chinese at bone mass candidate genes : Implication for ethnic difference of bone mass. / 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, Robert R.; Deng, Hong Wen.

In: Annals of Human Genetics, Vol. 67, No. 3, 05.2003, p. 216-227.

Research output: Contribution to journalArticle

Dvornyk, V, Liu, XH, Shen, H, Lei, SF, Zhao, LJ, Huang, QR, Qin, YJ, Jiang, DK, Long, JR, Zhang, YY, Gong, G, Recker, RR & Deng, HW 2003, 'Differentiation of Caucasians and Chinese at bone mass candidate genes: Implication for ethnic difference of bone mass', Annals of Human Genetics, vol. 67, no. 3, pp. 216-227. https://doi.org/10.1046/j.1469-1809.2003.00037.x
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, Robert R. ; Deng, Hong Wen. / Differentiation of Caucasians and Chinese at bone mass candidate genes : Implication for ethnic difference of bone mass. In: Annals of Human Genetics. 2003 ; Vol. 67, No. 3. pp. 216-227.
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T2 - Implication for ethnic difference of bone mass

AU - Dvornyk, V.

AU - Liu, X. H.

AU - Shen, H.

AU - Lei, S. F.

AU - Zhao, L. J.

AU - Huang, Q. R.

AU - Qin, Y. J.

AU - Jiang, D. K.

AU - Long, J. R.

AU - Zhang, Y. Y.

AU - Gong, G.

AU - Recker, Robert R.

AU - Deng, Hong Wen

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N2 - 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 α2HS-glycoprotein (AHSG) gene, the PvuII and XbaI polymorphisms of the estrogen receptor α (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.

AB - 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 α2HS-glycoprotein (AHSG) gene, the PvuII and XbaI polymorphisms of the estrogen receptor α (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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