Department of Endocrinology and Diabetes, Hippokration General Hospital of Thessaloniki, Thessaloniki, Greece.
1st University Department of Ophthalmology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Endocrine. 2019 Aug;65(2):244-251. doi: 10.1007/s12020-019-01902-3. Epub 2019 Mar 28.
The pathogenesis of Graves' disease (GD) and orbitopathy (GO) is not completely elucidated. On the other hand, vitamin D receptor (VDR) gene polymorphisms have been associated with vulnerability to a plethora of chronic autoimmune diseases. The primary aim of this study was to synthesize evidence on the association between VDR gene polymorphisms and GD. Secondary aim was to investigate their association with GO.
A comprehensive search was conducted in PubMed, CENTRAL and Scopus, up to December 8, 2018. Data were expressed as odds ratio (OR) with 95% confidence intervals (CI). Heterogeneity was quantified with I index.
Ten studies were included in the qualitative and quantitative analysis. TT subtype of TaqI polymorphism was associated with an increased risk of GD compared with Tt and tt polymorphisms (OR: 1.42; 95% CI, 1.05-1.94, p = 0.025), whereas tt was associated with a lower risk of GD, compared with TT and Tt polymorphisms (OR: 0.79; 95% CI, 0.62-0.99, p = 0.043). No association was found for ApaI, BsmI, and FokI polymorphisms. The bb subtype of BsmI polymorphism was associated with a lower risk in Asian, but with a higher GD risk in Caucasian populations, compared with BB/Bb subtypes. No eligible study was found regarding the association between VDR gene polymorphisms and the risk of GO.
The TT subtype of the TaqI polymorphism was associated with a higher susceptibility for GD compared with Tt and tt. Regarding BsmI, the bb subtype was associated with increased GD risk in Caucasians, whereas it is protective in Asians.
格雷夫斯病（GD）和眼病（GO）的发病机制尚未完全阐明。另一方面，维生素 D 受体（VDR）基因多态性与多种慢性自身免疫性疾病的易感性有关。本研究的主要目的是综合评估 VDR 基因多态性与 GD 之间的关联。次要目的是研究其与 GO 的相关性。
我们在 PubMed、CENTRAL 和 Scopus 中进行了全面的检索，检索时间截至 2018 年 12 月 8 日。数据以比值比（OR）及其 95%置信区间（CI）表示。采用 I ² 指数来量化异质性。
有 10 项研究纳入了定性和定量分析。TaqI 多态性的 TT 亚型与 GD 的风险增加相关，与 Tt 和 tt 多态性相比（OR：1.42；95%CI，1.05-1.94，p=0.025），而 tt 与 GD 的风险降低相关，与 TT 和 Tt 多态性相比（OR：0.79；95%CI，0.62-0.99，p=0.043）。ApaI、BsmI 和 FokI 多态性与 GD 无关。BsmI 多态性的 bb 亚型在亚洲人群中与较低的 GD 风险相关，但在高加索人群中与 BB/Bb 亚型相比，GD 风险较高。未发现 VDR 基因多态性与 GO 风险之间相关性的相关研究。
与 Tt 和 tt 相比，TaqI 多态性的 TT 亚型与 GD 的易感性增加相关。关于 BsmI，bb 亚型与高加索人群中的 GD 风险增加相关，而在亚洲人群中具有保护作用。
