Microsatellite polymorphism in intron 2 of human Toll-like receptor 2 gene is associated with susceptibility to acute pancreatitis in Japan
Microsatellite polymorphism in intron 2 of human Toll-like receptor 2 gene is associated with susceptibility to acute pancreatitis in Japan
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DOI：
10.1016/j.humimm.2009.01.006
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发表时间：
2009-03-01
期刊：
影响因子：
2.7
通讯作者：
Shimosegawa, Tooru
中科院分区：
文献类型：
--
作者：
Takagi, Yasuhiko;Masamune, Atsushi;Shimosegawa, Tooru
这项研究评估了Toll样受体(TLR)2和TLR4基因的多态性与日本急性胰腺炎(AP)的关系。应用聚合酶链式反应和基因扫描分析方法，对202例无血缘关系的AP患者(重症80例，轻症122例)和286例健康对照的TLR2基因第2内含子鸟氨酸-胸腺嘧啶[(GT)(N)]重复数进行了检测。等位基因分为3个亚类：(GT)(16)及以下为S等位基因；(GT)(17)至(GT)(22)为M等位基因；(GT)(23)或以上为L等位基因。采用聚合酶链式反应-限制性片段长度多态性分析方法检测TLR4基因Asp299Gly和Thr399Ile基因多态性。AP患者的S等位基因(P<；0.001，优势比=2.37，95%可信区间为1.78~3.17)和M等位基因(P<；0.001，优势比=0.40，95%可信区间=0.31~0.5 2)明显低于正常对照组。在AP患者中，SS和SL型较常见，MM和ML较少见。在亚组分析中，包括S等位基因在内的基因型在重症AP患者中比对照组更常见。未检测到Asp299Gly和Thr399Ile多态。结论：在日本，TLR2基因内含子2的微卫星多态与AP的易感性及其严重程度相关。(C)2009年美国组织相容性和免疫遗传学学会。爱思唯尔公司出版，版权所有。
This study evaluated the association of the polymorphisms in the Toll-like receptor(TLR)2 and TLR4 genes with acute pancreatitis (AP) in Japan. The numbers of guanine-thymine [(GT)(n)] repeats in intron 2 of the TLR2 gene were counted in 202 unrelated patients with AP (80 with severe and 122 with mild disease) and in 286 healthy controls, using polymerase chain reaction and Genescan analysis. The alleles were divided into three subclasses: (GT)(16) or less as the S allele; between (GT)(17) and (GT)(22) as the M allele; and (GT)(23) or more as the L allele. Asp299Gly and Thr399Ile polymorphisms in the TLR4 gene were examined by polymerase chain reaction-restriction fragment length polymorphism analysis. Patients with AP had more S alleles (p < 0.001; odds ratio = 2.37; 95% confidence interval = 1.78-3.17) and fewer M alleles (p < 0.001; odds ratio = 0.40; 95% confidence interval = 0.31-0.52) than did healthy controls. Genotypes SS and SL were more common, whereas MM and ML were less common in patients with AP. In subgroup analyses, the genotypes including S alleles were more common in patients with severe AP than in controls. No Asp299Gly and Thr399Ile polymorphisms were detected. In conclusion, microsatellite polymorphism in intron 2 of the TLR2 gene was associated with susceptibility to AP and its severity in Japan. (C) 2009 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.