Sun L, Wu H, Cao S G, Xia X P, Lin X Q, Jin J, Ding R, Jiang Y
Department of Gastroenterology, Second Affiliated Hospital of Wenzhou Medical University, Wenzhou 325000, China.
Zhonghua Nei Ke Za Zhi. 2017 Sep 1;56(9):667-672. doi: 10.3760/cma.j.issn.0578-1426.2017.09.009.
To explore the association of Crohn's disease (CD) with T cell immunoglobulin and mucin domain 3 (-3) gene polymorphisms in patients of Zhejiang Han population in China. A total of 308 CD patients and 573 age- and sex-matched healthy controls were enrolled in our study. Two single nucleotide polymorphisms (SNPs) of -3 (rs1036199 and rs10515746) were examined by the improved multiple ligase detection reaction technique (iMLDR). Analyses of linkage disequilibrium and haplotype were also performed by Haploview 4.2 software in all study subjects. In general, the allele and genotype frequencies of -3 (rs1036199 and rs10515746) were not statistically different between CD patients and the controls (all >0.05). According to "the Montreal Classification" , CD patients were divided into different subgroups. The variant allele (C) and genotype (AC+ CC) of rs1036199 were more frequent in CD patients with penetrating diseases than in the controls (10.4% vs 1.7%, =0.002; 20.8% vs 3.5%, =0.023). Similar conclusions were also drawn for the variant allele (A) and genotype (CA+ AA) of rs10515746 in patients with penetrating diseases when compared with the controls (10.4% vs 2.2%, =0.000; 20.8% vs 4.2%, =0.033, respectively). The two SNPs of -3 were in strong linkage disequilibrium ('=1.0, =0.928). The haplotype (AC) formed by their wild-type alleles (A) and (C) was decreased in patients with penetrating CD compared with the controls (89.6% vs 98.3%, =0.000). However, the haplotype (CA) formed by their variant alleles was more frequent in patients with penetrating CD than in the controls (10.4% vs 1.6%, =0.000). -3 (rs1036199 and rs10515746) variations might be correlated with the enhanced risk of penetrating diseases in CD patients. Furthermore, the haplotype (AC) and (CA) formed by the two SNPs might be a protective and a risky factor for penetrating CD respectively.
探讨中国浙江汉族人群中克罗恩病（CD）与T细胞免疫球蛋白和粘蛋白结构域3（-3）基因多态性的关联。本研究共纳入308例CD患者和573例年龄及性别匹配的健康对照。采用改良多重连接检测反应技术（iMLDR）检测-3的两个单核苷酸多态性（SNP）（rs1036199和rs10515746）。所有研究对象均使用Haploview 4.2软件进行连锁不平衡和单倍型分析。总体而言，CD患者与对照组之间-3（rs1036199和rs10515746）的等位基因和基因型频率无统计学差异（均>0.05）。根据“蒙特利尔分类法”，将CD患者分为不同亚组。rs1036199的变异等位基因（C）和基因型（AC + CC）在穿透性疾病的CD患者中比对照组更常见（10.4%对1.7%，=0.002；20.8%对3.5%，=0.023）。与对照组相比，rs10515746的变异等位基因（A）和基因型（CA + AA）在穿透性疾病患者中也得出了类似结论（分别为10.4%对2.2%，=0.000；20.8%对4.2%，=0.033）。-3的两个SNP处于强连锁不平衡状态（'=1.0，=0.928）。与对照组相比，穿透性CD患者中由其野生型等位基因（A）和（C）形成的单倍型（AC）减少（89.6%对98.3%，=0.000）。然而，由其变异等位基因形成的单倍型（CA）在穿透性CD患者中比对照组更常见（10.4%对1.6%，=0.000）。-3（rs1036199和rs10515746）的变异可能与CD患者穿透性疾病风险增加相关。此外，由这两个SNP形成的单倍型（AC）和（CA）可能分别是穿透性CD的保护因素和风险因素。
