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Association between vitamin D receptor gene polymorphisms and Graves' disease: a systematic review and meta-analysis
Stavroula Veneti1, Panagiotis Anagnostis2, Fotini Adamidou1
1Department of Endocrinology and Diabetes, Hippokration General Hospital of Thessaloniki, Thessaloniki, Greece.
Purpose:
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.
Methods:
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 I2 index.
Results:
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.
Conclusions:
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.
Insights
Vitamin D receptor (VDR) gene polymorphisms, specifically the TT subtype of TaqI, are linked to increased Graves' disease (GD) risk. The BsmI polymorphism shows varied GD risk effects in Asian versus Caucasian populations.
Area of Science:
- Endocrinology
- Genetics
- Immunology
Background:
- Graves' disease (GD) pathogenesis is not fully understood.
- Vitamin D receptor (VDR) gene polymorphisms are implicated in autoimmune disease susceptibility.
- Investigating VDR gene variants may offer insights into GD and Graves' orbitopathy (GO) etiology.
Purpose of the Study:
- To synthesize evidence on the association between VDR gene polymorphisms and GD.
- To explore the link between VDR gene polymorphisms and GO risk.
Main Methods:
- A comprehensive literature search was performed in PubMed, CENTRAL, and Scopus up to December 2018.
- Meta-analysis was conducted, expressing data as odds ratios (OR) with 95% confidence intervals (CI).
- Heterogeneity was assessed using the I-squared index.
Main Results:
- Ten studies were included. The TT subtype of TaqI polymorphism correlated with increased GD risk (OR: 1.42; 95% CI, 1.05-1.94).
- The tt subtype of TaqI polymorphism was associated with a reduced GD risk (OR: 0.79; 95% CI, 0.62-0.99).
- The BsmI polymorphism's bb subtype showed a lower GD risk in Asians but a higher risk in Caucasians. No associations were found for ApaI or FokI polymorphisms. No studies investigated VDR polymorphisms and GO risk.
Conclusions:
- The TT subtype of TaqI VDR polymorphism increases susceptibility to Graves' disease.
- The BsmI VDR polymorphism exhibits population-specific effects on GD risk, being higher in Caucasians and lower in Asians.