一组土耳其桥本甲状腺炎患者中维生素D受体基因ApaI、TaqI、FokI和BsmI多态性

Vitamin D receptor gene ApaI, TaqI, FokI and BsmI polymorphisms in a group of Turkish patients with Hashimoto's thyroiditis.

作者信息

Yazici D, Yavuz D, Tarcin O, Sancak S, Deyneli O, Akalin S

机构信息

Marmara University Medical School, Section of Endocrinology and Metabolism Istanbul, Turkey.

出版信息

Minerva Endocrinol. 2013 Jun;38(2):195-201.

PMID:23732374

Abstract

AIM

Previous studies have suggested an influence of vitamin D receptor polymorphisms on the development of autoimmune thyroid disease in different ethnic populations. We aimed to investigate the distribution of vitamin D receptor (VDR) alleles in a group of Turkish patients with Hashimoto's thyroiditis (HT).

METHODS

One hundred and eleven patients (male/female: 5/106, 47.9±12.8 years) and 159 healthy controls (male/female: 21/138, 30.5±6.3 yrs) were included in the study. VDR gene FokI, BsmI, ApaI TaqI polymorphisms were examined using a polymerase chain reaction (PCR) -based restriction analysis. Serum levels of (thyroid-stimulating hormone) TSH, anti-thyroid peroxidase and anti-thyroglobulin levels were determined.

RESULTS

The VDR TaqI "TT" (59.5% in patients vs. 27.6% in controls; 95% confidence interval [CI]: 0.14-0.46) and FokI 'FF' genotypes (67.6% in patients vs. 44.6% in controls; 95% CI: 0.46-0.81) occurred more frequently in patients, while VDR "Tt" (56.6% in patients vs. 32.4% in controls 95% CI: 1.22-2.14) and "Ff" genotypes (25.2% in patients vs. 49.1% in controls 95% CI: 1.27-2.18) were more common in controls. There were no differences in the genotype frequencies of the ApaI and BsmI polymorphisms in cases and controls. The most common genotypes were "bbAaTTFF" in the thyroiditis group (12.6% patients vs. 5.6% in controls, P>0.05) and "BbAaTtFf" in the control group (6.3% patients vs. 22.2% in controls, P=0.002).

CONCLUSION

VDR gene TaqI TT and FokI FF genotypes are associated with increased risk of HT disease in our group of Turkish patients. BbAaTtFf genotype seems to be protective for HT disease in our population.

摘要

目的

以往研究表明维生素D受体多态性对不同种族人群自身免疫性甲状腺疾病的发生有影响。我们旨在调查一组土耳其桥本甲状腺炎（HT）患者中维生素D受体（VDR）等位基因的分布情况。

方法

本研究纳入了111例患者（男/女：5/106，年龄47.9±12.8岁）和159名健康对照者（男/女：21/138，年龄30.5±6.3岁）。采用基于聚合酶链反应（PCR）的限制性分析检测VDR基因FokI、BsmI、ApaI、TaqI多态性。测定血清促甲状腺激素（TSH）、抗甲状腺过氧化物酶和抗甲状腺球蛋白水平。

结果

VDR TaqI “TT”基因型（患者中占59.5%，对照者中占27.6%；95%置信区间[CI]：0.14 - 0.46）和FokI “FF”基因型（患者中占67.6%，对照者中占44.6%；95% CI：0.46 - 0.81）在患者中出现的频率更高，而VDR “Tt”基因型（患者中占56.6%，对照者中占32.4%，95% CI：1.22 - 2.14）和“Ff”基因型（患者中占25.2%，对照者中占49.1%，95% CI：1.27 - 2.18）在对照者中更常见。病例组和对照组中ApaI和BsmI多态性的基因型频率无差异。甲状腺炎组最常见的基因型是“bbAaTTFF”（患者中占12.6%，对照者中占5.6%，P>0.05），对照组最常见的基因型是“BbAaTtFf”（患者中占6.3%，对照者中占22.2%，P = 0.002）。