A large‐scale population‐based study of the association of vitamin D receptor gene polymorphisms with bone mineral density
A large‐scale population‐based study of the association of vitamin D receptor gene polymorphisms with bone mineral density
复制标题
维生素 D 受体基因多态性与骨密度关联的大规模人群研究
DOI：
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发表时间：
1996
影响因子：
6.2
通讯作者：
J. V. van Leeuwen
中科院分区：
文献类型：
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作者：
A. Uitterlinden;H. Pols;H. Burger;Qiuju Huang;P. V. van Daele;C. V. van Duijn;A. Hofman;J. Birkenhäger;J. V. van Leeuwen
已经报道了关于维生素D受体（VDR）基因座上的限制性片段长度多态性（RFLP）（即，用于BsmI、ApaI和TaqI）和骨矿物质密度（BMD）。我们分析了一个大的基于人群的样本（n = 1782）的男性和女性，年龄在55-80岁，使用一种新的直接单倍型聚合酶链反应（PCR）测试，同时监测三个多态性位点。我们开发的直接单倍型检测证明了VDR基因位点的遗传多态性程度比迄今为止所描述的更大。没有一个个体RFLPs与股骨近端BMD相关。通过分析等位基因剂量效应，我们确定了VDR单倍型等位基因与低BMD弱相关。该等位基因作为B等位基因组的一个代表，不同于先前由其他组报道的与低BMD相关的BsmI等位基因。这表明VDR基因座的等位基因异质性与BMD有关。我们的研究结果表明，在这个老年人群中，VDR基因型对BMD的影响最大。由于分析了匿名多态性，我们结果的其他解释包括与另一个附近的骨代谢相关基因的连锁。
Conflicting results have been reported on the association between restriction fragment length polymorphisms (RFLPs) at the vitamin D receptor (VDR) gene locus (i.e., for BsmI, ApaI, and TaqI) and bone mineral density (BMD). We analyzed this association in a large population‐based sample (n = 1782) of men and women aged 55–80 years using a novel direct haplotyping polymerase chain reaction (PCR) test to monitor the three polymorphic sites simultaneously. The direct haplotyping test we developed demonstrated a larger degree of genetic polymorphism at the VDR gene locus than described until now. None of the individual RFLPs were associated with BMD at the proximal femur. By analyzing allele dose effects, we identified a VDR haplotype allele weakly associated with low BMD. This allele, as one representative of the group of b alleles, is different from the BsmI allele previously reported by other groups to be associated with low BMD. This suggests allelic heterogeneity at the VDR locus in relation to BMD. Our results indicate at most a small effect of the VDR genotype on BMD in this elderly population. Since anonymous polymorphisms were analyzed, alternative explanations for our results include linkage to another nearby bone‐metabolism related gene.
骨量的遗传力：老年男性双胞胎的纵向研究。
影响因子：
9.8
作者：
Christian,JC;Yu,PL;Slemenda,CW;JohnstonJr,CC
通讯作者：
JohnstonJr,CC