The association of lumbar disc disease with vitamin-D receptor gene polymorphism
The association of lumbar disc disease with vitamin-D receptor gene polymorphism
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DOI：
10.2106/00004623-200211000-00018
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发表时间：
2002-11-01
影响因子：
5.3
通讯作者：
Kimura, T
中科院分区：
文献类型：
--
作者：
Kawaguchi, Y;Kanamori, M;Kimura, T
背景：虽然腰椎间盘疾病的病因尚不清楚，但有人认为遗传因素有助于其发展。近年来，一些遗传多态性被发现与临床疾病有关。我们研究了维生素d受体基因和雌激素受体基因多态性与年轻人腰椎间盘疾病之间的关系。方法：参与者包括205名年轻人（166名女性和39名男性），有或没有腰背问题。对所有受试者进行腰椎磁共振成像扫描，并根据Schneiderman等人的四级分类系统确定椎间盘退变的等级。椎间盘突出的存在与否也进行了评估。从外周血样本中提取基因组DNA。利用聚合酶链反应法检测维生素d受体和雌激素受体基因的多态性。采用Taql和Apal酶切分析了维生素d受体基因的限制性内切片段长度多态性（RFLPs）。用Xbal和Pvull限制性内切酶进行雌激素受体基因分析。比较了椎间盘退变和/或椎间盘突出症患者与正常人的多态性分布。结果：维生素d受体基因和雌激素受体基因多态性的等位基因频率与日本受试者的分析结果相似。维生素d受体基因等位基因变异与椎间盘多级严重退变和椎间盘突出有关。与Tt等位基因相比，Tt等位基因更常与多节段椎间盘疾病、严重椎间盘退变和椎间盘突出相关。没有发现其他关联。结论：本研究显示，维生素d受体基因Tt等位基因与多水平和严重的椎间盘退变和椎间盘突出症的关联比Tt等位基因更频繁，这表明维生素d受体基因Tt等位基因的受试者在早期椎间盘疾病的风险增加。
Background: Although the etiology of lumbar disc disease is unknown, it has been suggested that a genetic factor contributes to its development. Recently, some genetic polymorphisms have been found to be related to clinical disorders. We investigated the association between vitamin-D receptor gene and estrogen receptor gene polymorphisms and lumbar disc disease in young adults.Methods: The participants included 205 young adults (166 women and thirty-nine men) with or without low-back problems. A magnetic resonance imaging scan of the lumbar spine was performed for all subjects, and the grade of disc degeneration was determined, according to the four-grade classification system of Schneiderman et al. The presence or absence of disc herniation was also evaluated. Genomic DNA was extracted from peripheral blood samples. The polymorphisms of the vitamin-D receptor and estrogen receptor genes were detected with use of a polymerase-chain-reaction assay. The restriction fragment length polymorphisms (RFLPs) for the vitamin-D receptor gene were analyzed by Taql and Apal restriction enzymes. Xbal and Pvull restriction enzymes were used for the estrogen receptor gene analysis. The distribution of polymorphism in subjects with disc degeneration and/or disc herniation was compared with that in the normal subjects.Results: The allelic frequencies of both vitamin-D receptor gene and estrogen receptor gene polymorphisms were similar to those in previous analyses of Japanese subjects. The allelic variation in the vitamin-D receptor gene was associated with multilevel and severe disc degeneration and disc herniation. The Tt allele was found to be more frequently associated with multilevel disc disease, severe disc degeneration, and disc herniation than was the TT allele. No additional associations were found.Conclusions: This study revealed that the Tt allele of the vitamin-D receptor gene was more frequently associated with multilevel and severe disc degeneration and disc herniation than was the TT allele, pointing to an increased risk of disc disease at an early age in subjects with the Tt allele in the vitamin-D receptor gene.