维生素D受体基因多态性与成人身高相关联。
Vitamin D receptor gene polymorphisms are linked to and associated with adult height.
作者信息
Xiong D-H, Xu F-H, Liu P-Y, Shen H, Long J-R, Elze L, Recker R R, Deng H-W
机构信息
Osteoporosis Research Center, Creighton University, Omaha, NE 68131, USA.
出版信息
J Med Genet. 2005 Mar;42(3):228-34. doi: 10.1136/jmg.2004.024083.
BACKGROUND
The vitamin D receptor (VDR) gene is important to human stature, as it mediates metabolic pathways, calcium homeostasis, and phosphate homeostasis, which influence growth.
METHODS
We examined the relationship between VDR and adult height in 1873 white subjects from 406 nuclear families. Four SNPs, namely -4817A/G at intron 1, FokI C/T at exon 2 start codon, BsmI A/G at intron 8, and TaqI T/C at exon 9 in VDR were tested for linkage and association with adult height variation by the program QTDT (quantitative transmission disequilibrium test). The bT haplotype of the BsmI and TaqI loci was further tested for its association with height in unrelated samples randomly chosen from the 406 nuclear families by traditional population association methods.
RESULTS
All four tested SNPs were linked to adult height. Within family associations with height were detected at BsmI and TaqI loci (p = 0.048 and 0.039, respectively). Analyses based on BsmI/TaqI haplotypes also revealed evidence for linkage (p = 0.05) and association (p = 0.001) with height. The bT haplotype was significantly associated with higher adult height (p = 0.033, within family association test). Such an association might be female specific and influenced by menstrual status.
CONCLUSIONS
Our results strongly suggest that VDR may be linked to and associated with adult height variation in white populations.
背景
维生素D受体（VDR）基因对人类身高很重要，因为它介导影响生长的代谢途径、钙稳态和磷稳态。
方法
我们在来自406个核心家庭的1873名白人受试者中研究了VDR与成人身高之间的关系。通过程序QTDT（定量传递不平衡检验）测试了VDR基因中4个单核苷酸多态性（SNP），即内含子1处的-4817A/G、外显子2起始密码子处的FokI C/T、内含子8处的BsmI A/G和外显子9处的TaqI T/C与成人身高变异的连锁和关联。通过传统的群体关联方法，进一步测试了BsmI和TaqI位点的bT单倍型与从406个核心家庭中随机选择的无关样本中身高的关联。
结果
所有4个测试的SNP均与成人身高连锁。在BsmI和TaqI位点检测到与身高的家庭内关联（p分别为0.048和0.039）。基于BsmI/TaqI单倍型的分析也显示了与身高的连锁（p = 0.05）和关联（p = 0.001）证据。bT单倍型与较高的成人身高显著相关（p = 0.033，家庭内关联测试）。这种关联可能是女性特有的，并受月经状态影响。
结论
我们的结果强烈表明，VDR可能与白人人群的成人身高变异连锁并相关。
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