Polymorphisms in the HOXD4 gene are not associated with peak bone mineral density in Chinese nuclear families

Polymorphisms in the HOXD4 gene are not associated with peak bone mineral density in Chinese nuclear families
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HOXD4 基因多态性与中国核心家族的骨密度峰值无关

DOI:
10.1038/aps.2010.91
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发表时间:
2010-08-01
影响因子:
8.2
通讯作者:
Zhang, Zhen-lin
Zhang, Zhen-lin
中科院分区:
医学1区
文献类型:
--
作者:
Zhang, Hao;He, Jin-wei;Zhang, Zhen-lin

文献摘要

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目的:通过检测HOXD 4基因rs 1867863、rs 13418078和rs 4972504三个标签单核苷酸多态性(tagSNPs),探讨HOXD 4基因多态性与峰值骨密度(BMD)的关系。方法:收集中国汉族男性核心家系400个(1215人)和女性核心家系401个(1260人)。采用双能X线骨密度仪测量腰椎1-4(L1-4)和左侧股骨近端(包括全髋和股骨颈)的BMD。结果:在中国人群中,rs 13418078位点仅检测到CC基因型,与其他人群不同,在中国人群中,rs 13418078位点仅检测到CC基因型,而在中国人群中,rs 13418078位点仅检测到CC基因型。我们没有发现显着的家庭内的关联,这些SNPs,单倍型和峰值BMD在任何骨位点的男性或女性后代的核心family.Conclusion:结果表明,HOXD 4的遗传多态性可能不是一个主要的贡献者观察到的变异峰值BMD在腰椎和髋部在中国男性和女性。
Aim:To determine the associations between HOXD4 gene polymorphisms with peak bone mineral density (BMD) throughing measuring three tagging single nucleotide polymorphisms (tagSNPs), including rs1867863, rs13418078, and rs4972504, in HOXD4.Methods:Four hundred Chinese nuclear families with male offspring (1215 subjects) and 401 Chinese nuclear families with female offspring (1260 subjects) were recruited. BMD of the lumbar spine 1-4 (L1-4) and left proximal femur including total hip and femoral neck were measured by dual-energy X-ray absorptiometry. The quantitative transmission disequilibrium test (QTDT) was performed to investigate the association among the tagging SNPs, haplotypes and peak BMD.Results:Only the CC genotype was identified in rs13418078 in the Chinese population, unlike other populations. We failed to find significant within-family association among these SNPs, haplotypes and peak BMD at any bone site in either male-or female-offspring nuclear families.Conclusion:The results suggest that genetic polymorphisms in HOXD4 may not be a major contributor to the observed variability in peak BMD in the lumbar spine and the hip in Chinese men and women.