title: Polymorphisms in the HOXD4 gene are not associated with peak bone mineral density in Chinese nuclear families.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Zhang
authors.forename: Jin-wei
authors.initials: JW
authors.lastname: He
authors.forename: Gao
authors.initials: G
authors.lastname: Gao
authors.forename: Hua
authors.initials: H
authors.lastname: Yue
authors.forename: Jin-bo
authors.initials: JB
authors.lastname: Yu
authors.forename: Wei-wei
authors.initials: WW
authors.lastname: Hu
authors.forename: Jie-mei
authors.initials: JM
authors.lastname: Gu
authors.forename: Yun-qiu
authors.initials: YQ
authors.lastname: Hu
authors.forename: Miao
authors.initials: M
authors.lastname: Li
authors.forename: Wen-zhen
authors.initials: WZ
authors.lastname: Fu
authors.forename: Yu-juan
authors.initials: YJ
authors.lastname: Liu
authors.forename: Zhen-lin
authors.initials: ZL
authors.lastname: Zhang
mesh_terms: D015502:Absorptiometry, Photon; D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D015519:Bone Density / Q000235:genetics*; D002681:China; D005260:Female; D005272:Femur Neck; D006239:Haplotypes; D006615:Hip; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008159:Lumbar Vertebrae; D008297:Male; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: C442019:HOXD1 protein, human; D018398:Homeodomain Proteins