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

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.

目的：通过测量HOXD4基因中的3个标签单核苷酸多态性（tagSNPs），包括rs1867863、rs13418078和rs4972504，确定HOXD4基因多态性与峰值骨密度（BMD）之间的关联。 方法：招募了400个有男性后代的中国核心家庭（1215名受试者）和401个有女性后代的中国核心家庭（1260名受试者）。采用双能X线吸收法测量腰椎1 - 4（L1 - 4）以及包括全髋和股骨颈在内的左近端股骨的骨密度。进行定量传递不平衡检验（QTDT）以研究标签SNPs、单倍型与峰值骨密度之间的关联。 结果：与其他人群不同，在中国人群中rs13418078仅发现CC基因型。我们未能在男性或女性后代核心家庭的任何骨骼部位发现这些SNPs、单倍型与峰值骨密度之间存在显著的家庭内关联。 结论：结果表明，HOXD4基因多态性可能不是中国男性和女性腰椎和髋部峰值骨密度观察到的变异性的主要影响因素。