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维生素D受体基因rs2228570多态性与腰椎间盘退变疾病的关联

Association of rs2228570 Polymorphism of Vitamin D Receptor Gene with Lumbar Degenerative Disc Disease.

作者信息

Ozdogan Selcuk, Yaltirik Cumhur Kaan, Yilmaz Seda Gulec, Kocak Ayhan, Isbir Turgay

机构信息

Istanbul Training and Research Hospital, Neurosurgery Clinic, Istanbul, Turkey.

出版信息

Turk Neurosurg. 2019;29(2):159-163. doi: 10.5137/1019-5149.JTN.22275-17.2.

Abstract

AIM

To investigate the association between the vitamin D receptor (VDR) gene rs2228570 FokI polymorphism and the development of lumbar degenerative disc disease (LDDD) in the Turkish population.

MATERIAL AND METHODS

This was a prospective case-control study that included 45 patients with LDDD and 49 healthy individuals (control group). The clinical investigations of the LDDD patients consisted of neurological examinations, lumbar magnetic resonance imaging studies, visual analog scale (VAS) scores, and Oswestry Disability Index scores. The VDR gene rs2228570 FokI polymorphism was analyzed via a real-time polymerase chain reaction.

RESULTS

Individuals with the VDR GG genotype had a significantly increased risk of LDDD, while those with the AG genotype had a significantly decreased risk. In addition, the A allele may have a protective effect against LDDD in the Turkish population. Moreover, the VAS pain results showed that the GG genotype had a significantly higher score than the others.

CONCLUSION

VDR rs2228570 AG genotype is at a decreased risk and the GG genotype is at an increased risk of LDDD in the Turkish population. Since genetic polymorphisms often show ethnic differences, further functional studies are needed to evaluate the genotype and phenotype correlations in large cohorts of various ethnicities.

摘要

目的

探讨维生素D受体(VDR)基因rs2228570 FokI多态性与土耳其人群腰椎退变性椎间盘疾病(LDDD)发生发展之间的关联。

材料与方法

这是一项前瞻性病例对照研究,纳入了45例LDDD患者和49名健康个体(对照组)。LDDD患者的临床检查包括神经学检查、腰椎磁共振成像研究、视觉模拟评分(VAS)和奥斯威斯利功能障碍指数评分。通过实时聚合酶链反应分析VDR基因rs2228570 FokI多态性。

结果

VDR基因GG基因型个体患LDDD的风险显著增加,而AG基因型个体的风险显著降低。此外,在土耳其人群中,A等位基因可能对LDDD具有保护作用。而且,VAS疼痛结果显示,GG基因型的得分显著高于其他基因型。

结论

在土耳其人群中,VDR rs2228570 AG基因型患LDDD的风险降低,GG基因型的风险增加。由于基因多态性往往存在种族差异,因此需要进一步开展功能研究,以评估不同种族大样本队列中的基因型与表型相关性。

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