Genetics of autoimmune thyroid disease in the Lebanese population

被引：8

作者：

Farra C. ^{[1
]}

Awwad J. ^{[4
]}

Fadlallah A. ^{[2
]}

Sebaly G. ^{[2
]}

Hage G. ^{[2
]}

Souaid M. ^{[3
]}

Ashkar H. ^{[1
]}

Medlej R. ^{[2
]}

Gannageh M.H. ^{[2
]}

Halaby G. ^{[2
]}

机构：

[1] Department of Pathology, Laboratory Medicine, American University of Beirut Medical Center, Beirut

[2] Division of Endocrinology, Hotel Dieu de France Hospital, Beirut

[3] Genetics Laboratory, Chronic Care Center, Hazmieh

[4] Department of Obstetrics and Gynecology, American University of Beirut, Medical Center, Beirut

来源：

Journal of Community Genetics | 2012年 / 3卷 / 4期

关键词：

Autoimmune thyroid disease; Cytotoxic T lymphocyte-associated antigen-4; Graves' disease; Hashimoto's thyroiditis; Human leukocyte antigen; Thyroid peroxidase antibody;

D O I：

10.1007/s12687-012-0085-1

中图分类号：

学科分类号：

摘要：

This study aims to investigate the association of human leukocyte antigen (HLA) class II genes and cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) with autoimmune thyroid diseases in the Lebanese population. A total of 128 patients with autoimmune thyroid disease (55 with Graves' disease (GD) and 73 with Hashimoto's thyroiditis (HT)) were typed for HLA DQA1 (0301 and 0501) and DQB1 (0201, 0302, and 0303) and for 49A/G CTLA-4 using PCR-based sequence-specific priming methods. A total of 186 matched controls were typed for the same alleles and compared to the diseased population. Results showed no significant differences in HLA DQB1*0201 or DQB1 *0301 allelic frequencies or CTLA-4 polymorphisms between patients and controls. For GD, there was a weak association with HLA DQB1 *0302 [34.6% (19 of 55) vs. 21.5% (40 of 186), P00.048, odds ratio (OR)01.926, confidence interval (CI)00.999-3.715] and HLA DQB1 *0302-DQA1*0501 haplotype [56.36% (31 of 55) vs. 40.8% (76 of 186), P00.042, OR01.870, CI01.018-3.433]. For HT, the frequencies of DQB1*0302-DQA1*0501 haplotype [28.8% (21 of 73) vs. 14.5% (27 of 186), P00.008, OR02.378, CI01.241-4.558] and DQB1*0302-DQA1*0301 haplotype [60.2% (44 of 73) vs. 38.7% (72 of 186), P00.002, OR02.402, CI01.381-4.180] were significantly higher in patients. On the other hand, weak association was found between HT and DQA1*0301 allele [32.9% (24 of 73) vs. 20.9% (39 of 186), P00.044, OR01.846, CI01.011-3.373]. Findings show that DQB1 *0302-DQA1*0501 and DQB1 *0302-DQA1*0301 haplotypes may play a role in the pathogenesis of HT in the Lebanese population. For the 49A/G CTLA-4 polymorphism, no significant difference was found between patients and controls. © Springer-Verlag 2012.

引用

页码：259 / 264

页数：5

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