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维生素D受体基因的基因内多态性在腰椎退变和骨密度中的相对作用。

The relative roles of intragenic polymorphisms of the vitamin d receptor gene in lumbar spine degeneration and bone density.

作者信息

Videman T, Gibbons L E, Battié M C, Maravilla K, Vanninen E, Leppävuori J, Kaprio J, Peltonen L

机构信息

Department of Health Sciences, University of Jyväskylä, Jyväskylä, Finland.

出版信息

Spine (Phila Pa 1976). 2001 Feb 1;26(3):E7-E12. doi: 10.1097/00007632-200102010-00003.

DOI:10.1097/00007632-200102010-00003
PMID:11224872
Abstract

STUDY DESIGN

A retrospective cohort study.

OBJECTIVES

To compare the magnitudes of the associations of TaqI polymorphisms of the vitamin D receptor gene with bone density and lumbar spine degeneration in the same sample.

SUMMARY OF BACKGROUND DATA

Vitamin D receptor gene variations are associated with osteoporosis, osteoarthritis, and disc degeneration. Their role in these conditions remains poorly understood.

METHODS

Bone density of the spine and femur were determined through DEXA, and lumbar disc degeneration was determined from magnetic resonance imaging assessments of signal intensity, disc narrowing, bulging, anular tears, herniations, and osteophytes. Associations between these measures and TaqI polymorphisms of the coding region of the Vitamin D receptor locus were examined in a population-based sample of 142 men.

RESULTS

The strongest associations were with signal intensity and anular tears, which were worse for the subjects with tt genotypes than for those with TT genotypes in the L4-S1 spine discs. Conversely, the prevalences of disc bulges and osteophytes were lowest for the tt genotype. Bone density, disc height, and herniations did not differ significantly by genotype.

CONCLUSIONS

The strongest association of Vitamin D receptor TaqI polymorphisms with degeneration in nonmineralized connective tissues suggests that the underlying mechanism of TaqI polymorphisms is not specific to bone. This study demonstrated for the first time that those with the tt genotype had more anular tears than those with the TT genotype, a finding that should stimulate further analyses of this gene in conditions that result in back pain. The apparent discrepancies of the associations of the tt genotype with lower signal intensity and more anular tears, but less bulges and osteophytes, could be explained if bulging and osteophytes primarily represented remodeling related to lifetime physical loading.

摘要

研究设计

一项回顾性队列研究。

目的

在同一样本中比较维生素D受体基因的TaqI多态性与骨密度及腰椎退变之间关联的强度。

背景数据总结

维生素D受体基因变异与骨质疏松症、骨关节炎和椎间盘退变有关。它们在这些病症中的作用仍知之甚少。

方法

通过双能X线吸收法(DEXA)测定脊柱和股骨的骨密度,并通过磁共振成像评估信号强度、椎间盘狭窄、膨出、纤维环撕裂、突出和骨赘来确定腰椎间盘退变情况。在一个由142名男性组成的基于人群的样本中,研究了这些指标与维生素D受体基因座编码区的TaqI多态性之间的关联。

结果

最强的关联是与信号强度和纤维环撕裂,在L4 - S1椎间盘,tt基因型受试者的这些情况比TT基因型受试者更差。相反,tt基因型的椎间盘膨出和骨赘患病率最低。骨密度、椎间盘高度和突出在不同基因型之间没有显著差异。

结论

维生素D受体TaqI多态性与非矿化结缔组织退变之间的最强关联表明,TaqI多态性的潜在机制并非特定于骨骼。本研究首次表明,tt基因型者比TT基因型者有更多的纤维环撕裂,这一发现应促使在导致背痛的病症中对该基因进行进一步分析。如果膨出和骨赘主要代表与终生体力负荷相关的重塑,那么tt基因型与较低信号强度和更多纤维环撕裂但较少膨出和骨赘之间关联的明显差异就可以得到解释。

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