rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.
rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.
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RS1004819是德国克罗恩病患者中与疾病相关的主要IL23R变体：IL23R，CARD15和OCTN1/2变体的联合分析。
DOI：
10.1371/journal.pone.0000819
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发表时间：
2007-09-05
期刊：
影响因子：
3.7
通讯作者：
Brand S
中科院分区：
文献类型：
--
作者：
Glas J;Seiderer J;Wetzke M;Konrad A;Török HP;Schmechel S;Tonenchi L;Grassl C;Dambacher J;Pfennig S;Maier K;Griga T;Klein W;Epplen JT;Schiemann U;Folwaczny C;Lohse P;Göke B;Ochsenkühn T;Müller-Myhsok B;Folwaczny M;Mussack T;Brand S
IL23R基因已被确定为北美人群炎症性肠病（IBD）的易感基因。我们研究的目的是在一个大型德国 IBD 队列中测试这种关联，并阐明与其他 IBD 基因的潜在相互作用以及 IL23R 变异的表型后果。对 2670 名白人个体（包括 833 名克罗恩病 (CD) 患者、456 名溃疡性结肠炎 (UC) 患者和 1381 名健康无关对照）的基因组 DNA 进行了 10 个 IL23R SNP 分析。基因分型包括 NOD2 变体 p.Arg702Trp、p.Gly908Arg 和 p.Leu1007fsX1008 以及 SLC22A4/OCTN1 (1672 C→T) 和 SLC22A5/OCTN2 (–207 G→C) 的多态性。分析的所有 IL23R 基因变异均与 CD 高度显着相关。最强关联被发现为 SNP rs1004819 [P = 1.92×10−11；或 1.56； 95% CI (1.37–1.78)]。 93.2% 的 rs1004819 TT 纯合携带者与 78% 的 CC 野生型携带者相比，有回肠受累 [P = 0.004；或 4.24； CI (1.46–12.34)]。编码SNP rs11209026 (p.Arg381Gln)对CD具有保护作用[P = 8.04×10−8；或 0.43； CI (0.31–0.59)]。在 UC 中也发现了类似但较弱的关联。没有证据表明 IL23R 基因与 CD 易感基因 CARD15 和 SLC22A4/5 之间存在上位性。 IL23R 是 IBD 易感基因，但与 CARD15 和 SLC22A4/5 没有上位相互作用。 rs1004819 是德国人群中与 CD 相关的主要 IL23R 变体，而 p.Arg381Gln IL23R 变体是 CD 和 UC 的保护性标记。
The IL23R gene has been identified as a susceptibility gene for inflammatory bowel disease (IBD) in the North American population. The aim of our study was to test this association in a large German IBD cohort and to elucidate potential interactions with other IBD genes as well as phenotypic consequences of IL23R variants. Genomic DNA from 2670 Caucasian individuals including 833 patients with Crohn's disease (CD), 456 patients with ulcerative colitis (UC), and 1381 healthy unrelated controls was analyzed for 10 IL23R SNPs. Genotyping included the NOD2 variants p.Arg702Trp, p.Gly908Arg, and p.Leu1007fsX1008 and polymorphisms in SLC22A4/OCTN1 (1672 C→T) and SLC22A5/OCTN2 (–207 G→C). All IL23R gene variants analyzed displayed highly significant associations with CD. The strongest association was found for the SNP rs1004819 [P = 1.92×10−11; OR 1.56; 95 % CI (1.37–1.78)]. 93.2% of the rs1004819 TT homozygous carriers as compared to 78% of CC wildtype carriers had ileal involvement [P = 0.004; OR 4.24; CI (1.46–12.34)]. The coding SNP rs11209026 (p.Arg381Gln) was protective for CD [P = 8.04×10−8; OR 0.43; CI (0.31–0.59)]. Similar, but weaker associations were found in UC. There was no evidence for epistasis between the IL23R gene and the CD susceptibility genes CARD15 and SLC22A4/5. IL23R is an IBD susceptibility gene, but has no epistatic interaction with CARD15 and SLC22A4/5. rs1004819 is the major IL23R variant associated with CD in the German population, while the p.Arg381Gln IL23R variant is a protective marker for CD and UC.
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影响因子：
4.5
作者：
Libioulle C;Louis E;Hansoul S;Sandor C;Farnir F;Franchimont D;Vermeire S;Dewit O;de Vos M;Dixon A;Demarche B;Gut I;Heath S;Foglio M;Liang L;Laukens D;Mni M;Zelenika D;Van Gossum A;Rutgeerts P;Belaiche J;Lathrop M;Georges M
通讯作者：
Georges M
影响因子：
15.9
作者：
Becker, C;Wirtz, S;Neurath, MF
通讯作者：
Neurath, MF
影响因子：
30.8
作者：
Hampe, Jochen;Franke, Andre;Schreiber, Stefan
通讯作者：
Schreiber, Stefan
影响因子：
9.8
作者：
Brand, S;Hofbauer, K;Lohse, P
通讯作者：
Lohse, P
影响因子：
56.9
作者：
Duerr, Richard H.;Taylor, Kent D.;Cho, Judy H.
通讯作者：
Cho, Judy H.