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原发性干燥综合征患者的IkappaBalpha启动子多态性

IkappaBalpha promoter polymorphisms in patients with primary Sjögren's syndrome.

作者信息

Ou Tsan-Teng, Lin Chia-Hui, Lin Yu-Chih, Li Ruei-Nian, Tsai Wen-Chan, Liu Hong-Wen, Yen Jeng-Hsien

机构信息

Division of Rheumatology, Department of Internal Medicine, Kaohsiung Medical University Hospital, 100 Zihyou 1st Road, Kaohsiung City 807, Taiwan.

出版信息

J Clin Immunol. 2008 Sep;28(5):440-4. doi: 10.1007/s10875-008-9212-5. Epub 2008 Jul 4.

Abstract

INTRODUCTION

To investigate the association of IkBalpha promoter polymorphisms with the development of primary Sjögren's syndrome in Taiwan, 98 patients with primary Sjögren's syndrome and 110 unrelated healthy controls were enrolled in this study.

MATERIALS AND METHODS

The IkappaBalpha -881 A/G, IkappaBalpha -826 C/T, IkappaBalpha -550 A/T, IkappaBalpha -519 C/T, and IkappaBalpha -297 C/T polymorphisms were determined by the methods of polymerase chain reaction/restriction fragment length polymorphism.

RESULTS

This study demonstrated that the genotype frequencies of IkappaBalpha -826 C/T and IkappaBalpha -826 T/T, in comparison with that of IkappaBalpha -826 C/C, were significantly higher in the patients with primary Sjögren's syndrome than in the controls. The allele frequency of IkappaBalpha -881 G was significantly decreased in the patients with primary Sjögren's syndrome compared with that of the controls. In contrast, the allele frequency of IkappaBalpha -826 T was significantly higher in the patients with primary Sjögren's syndrome than in the controls. The similar findings could also be found in the allele carriage frequencies. The patients with primary Sjögren's syndrome had lower allele carriage frequencies of IkappaBalpha -881 G and IkappaBalpha -826 C, and a higher allele carriage frequency of IkappaBalpha -826 T. We also found that the estimated haplotype frequency of IkappaBalpha -881A-826T-550A-519C-297C was significantly increased in the patients with primary Sjögren's syndrome in comparison with that of the controls.

DISCUSSION

This study demonstrated that the IkBalpha -826T allele and IkBalpha -881A-826T-550A-519C-297C haplotype were associated with susceptibility to primary Sjögren's syndrome in Taiwan. However, these findings may not be disease-specific but may be related to inflammatory responses.

摘要

引言

为了研究台湾地区原发性干燥综合征的发生与IkBα启动子多态性之间的关联,本研究纳入了98例原发性干燥综合征患者和110名无亲缘关系的健康对照。

材料与方法

采用聚合酶链反应/限制性片段长度多态性方法检测IkappaBα -881 A/G、IkappaBα -826 C/T、IkappaBα -550 A/T、IkappaBα -519 C/T和IkappaBα -297 C/T多态性。

结果

本研究表明,与IkappaBα -826 C/C相比,原发性干燥综合征患者中IkappaBα -826 C/T和IkappaBα -826 T/T的基因型频率显著高于对照组。与对照组相比,原发性干燥综合征患者中IkappaBα -881 G的等位基因频率显著降低。相反,原发性干燥综合征患者中IkappaBα -826 T的等位基因频率显著高于对照组。在等位基因携带频率中也发现了类似的结果。原发性干燥综合征患者中IkappaBα -881 G和IkappaBα -826 C的等位基因携带频率较低,而IkappaBα -826 T的等位基因携带频率较高。我们还发现,与对照组相比,原发性干燥综合征患者中IkappaBα -881A-826T-550A-519C-297C的估计单倍型频率显著增加。

讨论

本研究表明,在台湾地区,IkBα -826T等位基因和IkBα -881A-826T-550A-519C-297C单倍型与原发性干燥综合征的易感性相关。然而,这些发现可能并非疾病特异性的,而可能与炎症反应有关。

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