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A study in three European IBD cohorts confirms that the ATG16L1 c.898A>G (p.Thr300Ala) variant is a susceptibility factor for Crohn's disease.一项在三个欧洲 IBD 队列中的研究证实，ATG16L1 c.898A>G（p.Thr300Ala）变异是克罗恩病的易感因素。
J Crohns Colitis. 2007 Dec;1(2):70-6. doi: 10.1016/j.crohns.2007.08.001. Epub 2007 Sep 27.
2
IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease.瑞典、芬兰、匈牙利和意大利人群中的白细胞介素23受体（IL23R）：与炎症性肠病和银屑病的关联以及与乳糜泻的连锁关系。
BMC Med Genet. 2009 Jan 28;10:8. doi: 10.1186/1471-2350-10-8.
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Worldwide population differentiation at disease-associated SNPs.疾病相关单核苷酸多态性的全球人群分化
BMC Med Genomics. 2008 Jun 4;1:22. doi: 10.1186/1755-8794-1-22.
4
ATG16L1 and IL23 receptor (IL23R) genes are associated with disease susceptibility in Hungarian CD patients.自噬相关蛋白16样蛋白1（ATG16L1）基因和白细胞介素23受体（IL23R）基因与匈牙利克罗恩病患者的疾病易感性相关。
Dig Liver Dis. 2008 Nov;40(11):867-73. doi: 10.1016/j.dld.2008.03.022. Epub 2008 May 22.
5
Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population.芬兰人群中白细胞介素23受体（IL23R）、肿瘤坏死因子受体超家族成员1A（TNFRSF1A）及人类白细胞抗原DRB1*0103等位基因变异与炎症性肠病表型的关联
Inflamm Bowel Dis. 2008 Aug;14(8):1118-24. doi: 10.1002/ibd.20431.
6
The ATG16L1 gene variants rs2241879 and rs2241880 (T300A) are strongly associated with susceptibility to Crohn's disease in the German population.ATG16L1基因变体rs2241879和rs2241880（T300A）与德国人群中克罗恩病的易感性密切相关。
Am J Gastroenterol. 2008 Mar;103(3):682-91. doi: 10.1111/j.1572-0241.2007.01694.x. Epub 2007 Dec 20.
7
ATG16L1 and IL23R are associated with inflammatory bowel diseases but not with celiac disease in the Netherlands.在荷兰，自噬相关基因16样蛋白1（ATG16L1）和白细胞介素23受体（IL23R）与炎症性肠病相关，但与乳糜泻无关。
Am J Gastroenterol. 2008 Mar;103(3):621-7. doi: 10.1111/j.1572-0241.2007.01660.x. Epub 2007 Nov 28.
8
Evaluation of the interleukin-23 receptor gene coding variant R381Q in pediatric and adult Crohn disease.白细胞介素-23受体基因编码变体R381Q在儿童及成人克罗恩病中的评估
J Pediatr Gastroenterol Nutr. 2007 Oct;45(4):405-8. doi: 10.1097/MPG.0b013e318141a1de.
9
Heterozygosity for IL23R p.Arg381Gln confers a protective effect not only against Crohn's disease but also ulcerative colitis.白细胞介素23受体（IL23R）基因第381位密码子由精氨酸突变为谷氨酰胺的杂合子不仅对克罗恩病有保护作用，对溃疡性结肠炎也有保护作用。
Aliment Pharmacol Ther. 2007 Oct 1;26(7):1025-33. doi: 10.1111/j.1365-2036.2007.03446.x.
10
Interleukin-23R Arg381Gln is associated with susceptibility to Crohn's disease but not with phenotype in an Italian population.白细胞介素-23受体基因Arg381Gln与意大利人群中克罗恩病的易感性相关，但与疾病表型无关。
Gastroenterology. 2007 Sep;133(3):1049-51; author reply 1051-2. doi: 10.1053/j.gastro.2007.07.013.

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.

DOI:10.3748/wjg.v16.i3.359
PMID:20082483
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2807958/
Abstract

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.

摘要

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。