Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity

Shu Feng Lei, Fei Yan Deng, Xiang Hua Liu, Qi Ren Huang, Yuejuan Qin, Qi Zhou, De Ke Jiang, Yu Mei Li, Xiao Yang Mo, Man Yuan Liu, Xiang Ding Chen, Xiu Shan Wu, Hui Shen, Volodymyr Dvornyk, Langjuan Zhao, Robert R. Recker, Hong Wen Deng

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Abstract

Studies on polymorphisms of candidate genes and their association with bone mineral density (BMD) have been reported in many populations, but few have been reported in Chinese populations. We investigated polymorphisms of the following five commonly used markers of four prominent BMD candidate genes with the purpose of identifying useful genetic markers for osteoporosis genetic research in Chinese: the Sp1 and RsaI polymorphisms of the collagen type 1 alpha 1 (Col1a1) gene, the -174G/C promoter polymorphism of the interleukin 6 (IL-6) gene, the Asn363Ser polymorphism of the glucocorticoid receptor (GR) gene, and the T → C polymorphism in intron 5 of the transforming growth factor β1 (TGF-β1) gene. We evaluated these polymorphisms using PCR-RFLP in samples of at least 124 random individuals. We compared the polymorphisms of these five markers with other populations using the χ2 test and Fisher's exact two-tailed test. For the RsaI polymorphism, only three heterozygotes but no variant homozygote were identified. For the -174G/C polymorphic site, only one GC heterozygote and no CC homozygote were found. Alleles s, Ser, and A1 at the Sp1, Asn363Ser, and T → C marker sites that have been found to be polymorphic in other populations were not found in Chinese. Significant differences of allele and genotype frequency distributions were observed at these polymorphisms (P <0.001) after comparing with other populations. Our results suggest that variant alleles of the five markers are absent or too rare to be useful genetic makers in Chinese, despite the fact that they have been commonly used as polymorphic markers in osteoporosis genetic research in other populations.

Original languageEnglish
Pages (from-to)34-42
Number of pages9
JournalJournal of Bone and Mineral Metabolism
Volume21
Issue number1
DOIs
StatePublished - 2003

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Bone Density
Population
Genes
Genetic Research
Homozygote
Heterozygote
Osteoporosis
Alleles
Glucocorticoid Receptors
Transforming Growth Factors
Collagen Type I
Genetic Markers
Gene Frequency
Restriction Fragment Length Polymorphisms
Introns
Interleukin-6
Genotype
Polymerase Chain Reaction

All Science Journal Classification (ASJC) codes

  • Endocrinology

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Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity. / Lei, Shu Feng; Deng, Fei Yan; Liu, Xiang Hua; Huang, Qi Ren; Qin, Yuejuan; Zhou, Qi; Jiang, De Ke; Li, Yu Mei; Mo, Xiao Yang; Liu, Man Yuan; Chen, Xiang Ding; Wu, Xiu Shan; Shen, Hui; Dvornyk, Volodymyr; Zhao, Langjuan; Recker, Robert R.; Deng, Hong Wen.

In: Journal of Bone and Mineral Metabolism, Vol. 21, No. 1, 2003, p. 34-42.

Research output: Contribution to journalArticle

Lei, SF, Deng, FY, Liu, XH, Huang, QR, Qin, Y, Zhou, Q, Jiang, DK, Li, YM, Mo, XY, Liu, MY, Chen, XD, Wu, XS, Shen, H, Dvornyk, V, Zhao, L, Recker, RR & Deng, HW 2003, 'Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity', Journal of Bone and Mineral Metabolism, vol. 21, no. 1, pp. 34-42. https://doi.org/10.1007/s007740300006
Lei, Shu Feng ; Deng, Fei Yan ; Liu, Xiang Hua ; Huang, Qi Ren ; Qin, Yuejuan ; Zhou, Qi ; Jiang, De Ke ; Li, Yu Mei ; Mo, Xiao Yang ; Liu, Man Yuan ; Chen, Xiang Ding ; Wu, Xiu Shan ; Shen, Hui ; Dvornyk, Volodymyr ; Zhao, Langjuan ; Recker, Robert R. ; Deng, Hong Wen. / Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity. In: Journal of Bone and Mineral Metabolism. 2003 ; Vol. 21, No. 1. pp. 34-42.
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T1 - Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity

AU - Lei, Shu Feng

AU - Deng, Fei Yan

AU - Liu, Xiang Hua

AU - Huang, Qi Ren

AU - Qin, Yuejuan

AU - Zhou, Qi

AU - Jiang, De Ke

AU - Li, Yu Mei

AU - Mo, Xiao Yang

AU - Liu, Man Yuan

AU - Chen, Xiang Ding

AU - Wu, Xiu Shan

AU - Shen, Hui

AU - Dvornyk, Volodymyr

AU - Zhao, Langjuan

AU - Recker, Robert R.

AU - Deng, Hong Wen

PY - 2003

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N2 - Studies on polymorphisms of candidate genes and their association with bone mineral density (BMD) have been reported in many populations, but few have been reported in Chinese populations. We investigated polymorphisms of the following five commonly used markers of four prominent BMD candidate genes with the purpose of identifying useful genetic markers for osteoporosis genetic research in Chinese: the Sp1 and RsaI polymorphisms of the collagen type 1 alpha 1 (Col1a1) gene, the -174G/C promoter polymorphism of the interleukin 6 (IL-6) gene, the Asn363Ser polymorphism of the glucocorticoid receptor (GR) gene, and the T → C polymorphism in intron 5 of the transforming growth factor β1 (TGF-β1) gene. We evaluated these polymorphisms using PCR-RFLP in samples of at least 124 random individuals. We compared the polymorphisms of these five markers with other populations using the χ2 test and Fisher's exact two-tailed test. For the RsaI polymorphism, only three heterozygotes but no variant homozygote were identified. For the -174G/C polymorphic site, only one GC heterozygote and no CC homozygote were found. Alleles s, Ser, and A1 at the Sp1, Asn363Ser, and T → C marker sites that have been found to be polymorphic in other populations were not found in Chinese. Significant differences of allele and genotype frequency distributions were observed at these polymorphisms (P <0.001) after comparing with other populations. Our results suggest that variant alleles of the five markers are absent or too rare to be useful genetic makers in Chinese, despite the fact that they have been commonly used as polymorphic markers in osteoporosis genetic research in other populations.

AB - Studies on polymorphisms of candidate genes and their association with bone mineral density (BMD) have been reported in many populations, but few have been reported in Chinese populations. We investigated polymorphisms of the following five commonly used markers of four prominent BMD candidate genes with the purpose of identifying useful genetic markers for osteoporosis genetic research in Chinese: the Sp1 and RsaI polymorphisms of the collagen type 1 alpha 1 (Col1a1) gene, the -174G/C promoter polymorphism of the interleukin 6 (IL-6) gene, the Asn363Ser polymorphism of the glucocorticoid receptor (GR) gene, and the T → C polymorphism in intron 5 of the transforming growth factor β1 (TGF-β1) gene. We evaluated these polymorphisms using PCR-RFLP in samples of at least 124 random individuals. We compared the polymorphisms of these five markers with other populations using the χ2 test and Fisher's exact two-tailed test. For the RsaI polymorphism, only three heterozygotes but no variant homozygote were identified. For the -174G/C polymorphic site, only one GC heterozygote and no CC homozygote were found. Alleles s, Ser, and A1 at the Sp1, Asn363Ser, and T → C marker sites that have been found to be polymorphic in other populations were not found in Chinese. Significant differences of allele and genotype frequency distributions were observed at these polymorphisms (P <0.001) after comparing with other populations. Our results suggest that variant alleles of the five markers are absent or too rare to be useful genetic makers in Chinese, despite the fact that they have been commonly used as polymorphic markers in osteoporosis genetic research in other populations.

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