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

Hao Zhang, Jin-wei He, Gao Gao, Hua Yue, Jin-bo Yu, Wei-wei Hu, Jie-mei Gu, Yun-qiu Hu, Miao Li, Wen-zhen Fu, Yu-juan Liu, Zhen-lin Zhang
Acta Pharmacologica Sinica 2010, 31 (8): 977-83

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.

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