291例溃疡性结肠炎患者中溶质相关载体26A3基因多态性分析

目的 探讨溶质相关载体（SLC）26A3基因单核苷酸多态性（SNP）与溃疡性结肠炎（UC）的关系。方法 收集291例UC患者和380例正常对照者，采用多重SNaPshot技术检测SLC26A3 （rs7810937、rs7785539和rs2108225） 3个SNP位点的等位基因及基因型，并进行连锁不平衡和单倍型分析。结果 UC组中（rs2108225）突变等位基因（G）和基因型（AG+GG）的频率均高于对照组（65.46% vs 58.68%，P=0.011；87.29% vs 81.58%，P=0.045）。与轻中度UC患者相比，重度UC患者中（rs7785539）突变等位基因（C）和基因型（GC+CC）的频率均显著增高（15.79% vs 6.13%，P=0.003；26.32% vs 12.25%，P=0.020）。（rs7810937，rs7785539和rs2108225） 3个SNP位点彼此连锁，但UC和对照组中各单倍型差异无统计学意义（P>0.05）。结论 SLC26A3 （rs2108225）基因突变可能增加UC发病风险，rs7785539基因多态性与UC疾病严重程度相关，（rs7810937、rs7785539和rs2108225）构建的单倍型与UC发病风险无关。

An Analysis on the Genetic Polymorphisms of Solute-linked Carrier Family 26 Member A3 in Two Hundred and Ninety-one Patients with Ulcerative Colitis

Objective To analyze the association of ulcerative colitis (UC) with the polymorphisms of solute-linked carrier family 26 member A3 (SLC26A3) gene in Chinese patients. Methods In a total of 291 UC patients and 380 controls, the three single nucleotide polymorphisms (SNPs) of SLC26A3 (rs7810937, rs7785539 and rs2108225) were examined by SNaPshot. The analyses of linkage disequilibrium (LD) and haplotype were performed in all study subjects. Results The mutant allele (G) and genotype (AG+GG) of SLC26A3 (rs2108225) were more frequent in UC patients than in the controls (65.46% vs 58.68%, P=0.010; 87.29% vs 81.58%, P=0.045, respectively). The mutant allele (C) and genotype (GC+CC) of SLC26A3 (rs7785539) were more prevalent in severe UC patients than in the other patients (15.79% vs 6.13%, P=0.003; 26.32% vs 12.25%, P=0.020). Moreover, the three SNPs (rs781093, rs7785539 and rs2108225) of SLC26A3 gene were found to be in a strong LD. However, there was no significant difference of haplotypes between UC and controls. Conclusion SLC26A3 (rs2108225) mutation might contribute to enhancing the risk of UC. SLC26A3 (rs7785539) gene polymorphisms were correlated with the severity of UC. The haplotypes formed by (rs7810937,rs7785539 and rs2108225) were not significant associated with the susceptibility of UC.