Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Acta Pharmacol Sin. 2010 Aug;31(8):977-83. doi: 10.1038/aps.2010.91.
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.
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.
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.
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.
通过测量 HOXD4 基因中的三个标记单核苷酸多态性（tagSNP），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。
招募了 400 个有男性后代的中国核家庭（1215 名受试者）和 401 个有女性后代的中国核家庭（1260 名受试者）。采用双能 X 线吸收法测量腰椎 1-4（L1-4）和左侧股骨近端的 BMD，包括全髋和股骨颈。采用定量传递不平衡检验（QTDT）分析这些标记 SNP、单倍型与峰值 BMD 之间的关联。
在中国人群中，rs13418078 中仅发现 CC 基因型，与其他人群不同。我们未能发现这些 SNP、单倍型与任何骨部位的峰值 BMD 在男性或女性后代核家庭中存在显著的家系内关联。
结果表明，HOXD4 中的遗传多态性可能不是导致中国男女腰椎和髋部峰值 BMD 观察到的可变性的主要因素。
