NOD2、IL23R 和 ATG16L1 多态性与立陶宛炎症性肠病患者的相关性。
NOD2, IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease.
机构信息
Department of Gastroenterology, Kaunas University of Medicine, A. Mickeviciaus Street 9, LT-44307 Kaunas, Lithuania.
出版信息
World J Gastroenterol. 2010 Jan 21;16(3):359-64. doi: 10.3748/wjg.v16.i3.359.
AIM
To investigate the frequency of NOD2, IL23R and ATG16L1 genetic variants in a case-control panel for inflammatory bowel disease (IBD) from Lithuania.
METHODS
One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880).
RESULTS
The effect that carriership of at least one NOD2 risk allele predisposes to CD was replicated in the Lithuanian population (41.1% CD vs 16.9% controls, P = 2 x 10(-4), OR = 3.48, 95% CI: 1.81-6.72). In the allelic single marker analysis, Leu1007insC was strongly associated with CD (21.4% CD vs 4.7% controls, P = 3.687 x 10(-8), OR = 5.54, 95% CI: 2.85-10.75). Neither the other two NOD2 variants, nor the known variants in IL23R and ATG16L1 were found to be risk factors for CD, UC or IBD. However, our relatively small study population was underpowered to demonstrate such weak to moderate disease associations.
CONCLUSION
The results support a strong association between CD susceptibility and the Leu1007insC variant in NOD2 in the Lithuanian study population.
目的
研究立陶宛炎症性肠病（IBD）病例对照研究中 NOD2、IL23R 和 ATG16L1 基因变异的频率。
方法
对 180 名无关的 IBD 患者[57 例克罗恩病（CD）和 123 例溃疡性结肠炎（UC）]和 186 名健康对照者进行以下已知遗传易感性变异的基因分型：NOD2-Arg702Trp（rs2066844）、Gly908Arg（rs2066845）和 Leu1007insC（rs2066847），以及 IL23R-Arg381Gln（rs11209026）和 ATG16L1-Thr300Ala（rs2241880）。
结果
在立陶宛人群中，至少携带一种 NOD2 风险等位基因的个体易患 CD 的效应得到了复制（41.1% CD 与 16.9% 对照组，P = 2×10(-4)，OR = 3.48，95%CI：1.81-6.72）。在等位基因单标记分析中，Leu1007insC 与 CD 密切相关（21.4% CD 与 4.7% 对照组，P = 3.687×10(-8)，OR = 5.54，95%CI：2.85-10.75）。其他两种 NOD2 变异体以及 IL23R 和 ATG16L1 中的已知变异体均未被发现是 CD、UC 或 IBD 的危险因素。然而，我们相对较小的研究人群的效力不足以证明这种弱至中度的疾病关联。
结论
研究结果支持立陶宛研究人群中 NOD2 的 Leu1007insC 变异与 CD 易感性之间的强烈关联。
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