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

Lei, Shu Feng; Dèng, Fēi; Liu, Xiang hua; Huang, Qibai; 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

doi:10.1007/s007740300006

Cited by 52 publications

(40 citation statements)

References 57 publications

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“…Genotypes of all subjects in the 401 nuclear families were determined using PCR-RFLP reaction protocols as described by Lei et al (2003). The genotypes were designated as PP, Pp, pp for ERPvuII, XX, Xx, xx for ER-XbaI, and AA, Aa, aa for VDR-ApaI.…”

Section: Genotypingmentioning

confidence: 99%

Interaction effects between estrogen receptor α gene, vitamin D receptor gene, age, and sex on bone mineral density in Chinese

et al. 2003

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We evaluated the interaction effects between the estrogen receptor a gene (ER-a), vitamin D receptor gene (VDR), age and sex on bone mineral density (BMD) in a sample of 340 unrelated males and 297 unrelated females from 401 Chinese nuclear families. Polymorphisms of PvuII and XbaI in the ER-a gene and ApaI in the VDR gene were detected by RFLP, and ERa genotype was defined by the haplotype reconstructed according to the two loci. In the females, significant ER-VDR gene interaction (P<0.05) was found on the lumbar spine BMD. Such interaction might account for approximately 1.0% of the BMD variation. At the femoral neck and trochanter, significant ER-age interaction effects were observed, which might explain 0.3% BMD variation for both skeletal sites. In the males, significant VDR-age interaction was found on femoral neck BMD (P<0.05), and it accounted for 0.6% BMD variation. These interaction effects were largely dependent on gender groups, suggesting there may exist ER-VDR-sex, ER-age-sex, and VDR-age-sex complex interactions in our Chinese sample.Keywords Interaction AE ER-a gene AE VDR gene AE Bone mineral density (BMD) AE Age AE Sex IntroductionOsteoporosis is among the major health problems throughout the world. It is characterized by low bone mineral density (BMD) and microarchitectural deterioration of bone structure (Kanis et al. 1994). BMD variation is under strong genetic determination with heritability of over 50% (Recker and Deng 2002). A number of candidate genes associated with BMD have been identified, such as estrogen receptor a (ER-a), vitamin D receptor (VDR), calcitonin receptor, collagen type 1 a1 (COL1A1), interleukin-6, transforming growth factor b1, and others (Ralston 2002;Liu et al. 2003). Among them, polymorphisms of PvuII and XbaI sites in the ER-a gene (ER-PvuII and ER-XbaI), and ApaI site in the VDR gene (VDR-ApaI) have been the most extensively studied genetic markers in relation to BMD variation (Ralston 2002;Liu et al. 2003). However, the results so far have been largely inconsistent and controversial.To some extent, the association between a candidate gene and BMD may depend on other factors, such as environment, gene-gene and gene-nongenetic factor interactions (Ralston 2002;Liu et al. 2003). Gene-gene interaction implies that genotypic effects of one locus may depend on the genotype of the other locus (or loci), while gene-nongenetic factor interaction means that only under particular conditions, such as specific age or sex, will the genotypes affect phenotypes. If such interaction effects exist and are not taken into account, they could confound, and even bias, the associations between the candidate genes and the phenotypes (Deng et al. 1998). Gene-gene interactions between the VDR, ER-a, and COLIA1 genes, as well as the interactions between genes and nongenetic factors, e.g., sex, age, race, calcium intake, vitamin D supplements, hormone replacement therapy (HRT), and exercise, were recently documented (Graafmans et al. 1997; Giguere et al. 2000; Efstathiadou et al. ...

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Section: Genotypingmentioning

confidence: 99%

Interaction effects between estrogen receptor α gene, vitamin D receptor gene, age, and sex on bone mineral density in Chinese

et al. 2003

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“…For example, some studies have found that the Sp1 polymorphism in the COL1A1 gene contributes to susceptibility to vertebral fracture or BMD [12,15,16,18] , but other studies have reported that there is no such association [20,21] . These discordant findings may be due to the inclusion of study subjects from populations with different ethnicities.…”

Section: Discussionmentioning

confidence: 99%

“…These discordant findings may be due to the inclusion of study subjects from populations with different ethnicities. Due to the lack of the Sp1 polymorphism in Chinese women [20,21] , this SNP was not evaluated in the present study. Few studies have investigated the association among other SNPs (excluding the Sp1 polymorphism) in COL1A1 and osteoporotic fracture or BMD [16,17] .…”

Section: Discussionmentioning

confidence: 99%

“…A recent meta-analysis of clinical studies has confirmed that the Sp1 polymorphism is associated with a higher prevalence of fractures among heterozygote (Ss) and homozygote (ss) in comparison to wild type individuals (SS) and that COL1A1 "s" allele has a stronger association with the risk for fracture than with BMD [19] . However, the Sp1 polymorphism has not been found in the Chinese population [20,21] . The relationship between COL1A2 genotypes and osteoporosis is less well characterized than that between COL1A1 genotypes and osteoporosis.…”

Section: Introductionmentioning

confidence: 95%

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No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women

Zhang

Wang

et al. 2011

Acta Pharmacol Sin

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Aim: To study whether genetic polymorphisms of COL1A1 and COL1A2 genes affected the onset of fracture in postmenopausal Chinese women. Methods: SNPs in COL1A1 and COL1A2 genes were identified via direct sequencing in 32 unrelated postmenopausal Chinese women. Ten SNPs were genotyped in 1252 postmenopausal Chinese women. The associations were examined using both single-SNP and haplotype tests using logistic regression. Results: Twenty four (4 novel) and 28 (7 novel) SNPs were identified in COL1A1 and COL1A2 gene, respectively. The distribution frequencies of 2 SNPs in COL1A1 (rs2075554 and rs2586494) and 3 SNPs in COL1A2 (rs42517, rs1801182, and rs42524) were significantly different from those documented for the European Caucasian population. No significant difference was observed between fracture and control groups with respect to allele frequency or genotype distribution in 9 selected SNPs and haplotype. No significant association was found between fragility fracture and each SNP or haplotype. The results remained the same after additional corrections for other risk factors such as weight, height, and bone mineral density. Conclusion: Our results show no association between common genetic variations of COL1A1 and COL1A2 genes and fracture, suggesting the complex genetic background of osteoporotic fractures.

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“…We did not examine the Sp1 polymorphism that is the most commonly studied marker at COLIA1, because it is not polymorphic in East Asians (Lei et al 2003).…”

Section: Discussionmentioning

confidence: 99%

Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia

et al. 2007

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Reduced scleral collagen accumulation has been found in the development of myopia. Single nucleotide polymorphisms (SNPs) at the type I collagen a-1 gene (COL1A1) may cause different susceptibilities to myopia. We conducted a case-control study to systematically examine COL1A1 as a candidate gene for high myopia. A case was defined as spherical refraction £-6 D and control ‡-1.5 D. The study comprised 471 cases and 623 controls, and ten tagging SNPs were genotyped. None of the SNPs reached the significant level of 0.05. Subset analysis on cases with a strong family history did not demonstrate significant results. We could not find an interaction between gene and near work. Exploratory analyses by changing the cutoff values to re-define cases and controls did not improve the results. Haplotype analysis did not yield significant association with myopia. This study failed to demonstrate COL1A1 as a significant risk factor for high myopia.

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

Cited by 52 publications

References 57 publications

Interaction effects between estrogen receptor α gene, vitamin D receptor gene, age, and sex on bone mineral density in Chinese

Interaction effects between estrogen receptor α gene, vitamin D receptor gene, age, and sex on bone mineral density in Chinese

No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women

Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia

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