探讨溶质相关载体26A3(solute-linked carrier family 26 member A3,SLC26A3)基因单核苷酸多态性(single nucleotide polymorphism, SNP)及单倍型与溃疡性结肠炎(ulcerative colitis, UC)的相关性。
方法收集416例UC患者和584名正常对照者,应用多重SNaPshot技术检测SLC26A3 (rs17154444、rs7810937、rs7785539、rs2108225和rs6951457) 5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)等位基因(G)和基因型(AG+GG)的频率均高于对照组(65.14% vs. 58.65%,P=0.030;87.02% vs. 81.85%,P=0.012)。与轻中度UC患者相比,重度UC患者中(rs17154444)等位基因(C)和基因型(TC+CC)的频率及(rs7785539)等位基因(C)和基因型(GC+CC)的频率均显著增高(rs17154444:14.00% vs. 6.01%,28.00% vs. 11.48%,P均<0.01;rs7785539:8.00% vs. 7.38%,P=0.011;16.00% vs. 13.93%,P=0.017)。rs17154444,rs7810937,rs7785539和rs2108225)4个SNP位点彼此连锁。与对照组相比,UC组中单倍型(T-A-G-G)的频率增高(62.60% vs. 58.20%,P=0.017);而单倍型(T-G-G-A)的频率降低(27.40% vs. 31.60%,P=0.041)。
结论SLC26A3 (rs2108225)基因变异可能增加UC发病风险,rs17154444和rs7785539基因多态性与UC严重程度相关。携带rs17154444,rs7810937,rs7785539和rs2108225构建的单倍型(T-A-G-G)可能增加UC发病风险,而单倍型(T-G-G-A)可能降低UC发病风险。