HLA-DRB1/DQB1 易感性与突尼斯南部的自身免疫性多腺体综合征 II 型和 III 型相关。
HLA-DRB1/DQB1 susceptibility for autoimmune polyglandular syndrome type II and III in south of Tunisia.
机构信息
Immunology Department, Habib Bourguiba Hospital, University of Sfax, Tunisia.
出版信息
Ann Endocrinol (Paris). 2011 Jun;72(3):232-8. doi: 10.1016/j.ando.2011.04.004. Epub 2011 Jun 8.
OBJECTIVES
The aim of our study was to investigate the association of HLA-DRB1 and HLA-DQB1 alleles with autoimmune polyglandular syndromes (APS) type II and III in a southern Tunisian population.
PATIENTS AND METHODS
Sixty-two unrelated patients with APSII (n=20) and APSIII (n=42) and 146 healthy controls were genotyped for HLA class II alleles (DRB1*, DQB1*) by PCR-SSP technique.
RESULTS
An increased frequencies of HLA-DQB103:02 (P=0,02; OR=2.98) in APSII patients, HLA-DRB103 (P=310(-6); OR=4.28) and HLA-DQB102:01 (P=0.04; OR=1.95) in APSIII patients were found compared to healthy controls. Study of the HLA-DRB1;DQB1* haplotype frequencies showed a higher occurrence of DRB104;DQB103:02 and DRB103;DQB102:01 in APSII patients (P=410(-3); OR=3.31 and P=0.03; OR=2.74 respectively) whereas APSIII was only associated with DRB103;DQB102:01 (P=7.210(-8), OR=4.71).
CONCLUSION
Our data suggest that the variation in class II HLA alleles and haplotypes could be a genetic factor involved in the susceptibility of APS syndrome.
目的
本研究旨在探讨 HLA-DRB1 和 HLA-DQB1 等位基因与南突尼斯人群自身免疫性多腺体综合征（APS）Ⅱ型和Ⅲ型的相关性。
方法
我们对 62 例无关的 APSⅡ型（n=20）、APSⅢ型（n=42）患者和 146 例健康对照者进行了 HLA Ⅱ类等位基因（DRB1*、DQB1*）的 PCR-SSP 基因分型。
结果
与健康对照组相比，APSⅡ型患者 HLA-DQB103:02 频率升高（P=0.02；OR=2.98），APSⅢ型患者 HLA-DRB103（P=310(-6)；OR=4.28）和 HLA-DQB102:01（P=0.04；OR=1.95）频率升高。HLA-DRB1;DQB1* 单倍型频率研究显示，APSⅡ型患者中 DRB104;DQB103:02 和 DRB103;DQB102:01 发生率较高（P=410(-3)；OR=3.31 和 P=0.03；OR=2.74），而 APSⅢ型仅与 DRB103;DQB102:01 相关（P=7.210(-8)，OR=4.71）。
结论
我们的数据表明，HLA Ⅱ类等位基因和单倍型的变异可能是 APS 综合征易感性的遗传因素。
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