Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Dig Liver Dis. 2011 Nov;43(11):856-61. doi: 10.1016/j.dld.2011.07.006. Epub 2011 Aug 9.
Recent genome-wide association studies have identified over 40 candidate genes contributing to ulcerative colitis susceptibility. The goal of this study was to test the reported ulcerative colitis susceptibility genes including FCGR2A, SLC26A3, JAK2 and HNF4A in Korean patients with ulcerative colitis and Crohn's disease.
Five single nucleotide polymorphisms from 4 loci including FCGR2A, SLC26A3, JAK2 and HNF4A were genotyped in 661 patients with ulcerative colitis, 642 patients with Crohn's disease and 601 healthy controls.
Statistically significant associations with ulcerative colitis were found at FCGR2A (rs1801274, p=2.3×10(-4), OR=0.70 (95% CI=0.57-0.84) under the allelic model), the JAK2 locus (rs10975003, p=6.7×10(-4), OR=1.43 (95% CI=1.16-1.77) under the allelic model) and HNF4A (rs6017342, p=0.002, OR=0.66 (95% CI=0.51-0.85) under the allelic model). The association of FCGR2A was much stronger in female patients with ulcerative colitis (p=5.7×10(-6)) than in males (p=0.50). Except rs10975003 from the JAK2 locus, none showed positive association with Crohn's disease.
Our data suggest that FCGR2A, JAK2 or HNF4A variants play a role in the pathogenesis of ulcerative colitis in Koreans.
最近的全基因组关联研究已经确定了 40 多个候选基因，这些基因有助于溃疡性结肠炎的易感性。本研究的目的是在韩国溃疡性结肠炎和克罗恩病患者中检测报告的溃疡性结肠炎易感基因，包括 FCGR2A、SLC26A3、JAK2 和 HNF4A。
在 661 例溃疡性结肠炎患者、642 例克罗恩病患者和 601 例健康对照者中，对来自 4 个基因座的 FCGR2A、SLC26A3、JAK2 和 HNF4A 的 5 个单核苷酸多态性进行基因分型。
在 FCGR2A （rs1801274，p=2.3×10(-4)，等位基因模型下 OR=0.70（95% CI=0.57-0.84））、JAK2 基因座（rs10975003，p=6.7×10(-4)，等位基因模型下 OR=1.43（95% CI=1.16-1.77））和 HNF4A （rs6017342，p=0.002，等位基因模型下 OR=0.66（95% CI=0.51-0.85））与溃疡性结肠炎显著相关。在溃疡性结肠炎女性患者中，FCGR2A 的相关性更强（p=5.7×10(-6)），而在男性患者中（p=0.50）则较弱。除 JAK2 基因座的 rs10975003 外，其余基因座与克罗恩病均无阳性关联。
我们的数据表明，FCGR2A、JAK2 或 HNF4A 变异在韩国溃疡性结肠炎的发病机制中起作用。
