Shao Xiaoxiao, Min Xiaoyan, Xia Xuanping, Lin Xiuqing, Jiang Lijia, Ding Ran, Jiang Yi
Department of Gastroenterology, the Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):255-260. doi: 10.3760/cma.j.issn.1003-9406.2017.02.024.
To assess the association of single nucleotide polymorphisms (SNPs) and haplotypes of solute-linked carrier family 26 member A3 (SLC26A3) gene with ulcerative colitis (UC) among Chinese patients.
For 416 UC patients and 584 controls, 5 SNPs of the SLC26A3 gene (rs17154444, rs7810937, rs7785539, rs2108225 and rs6951457) were determined with a SNaPshot method. Linkage disequilibrium (LD) and haplotype were analyzed for all subjects.
The G allele and AG+GG genotype of rs2108225 were more prevalent in UC patients compared with the controls (65.14% vs. 58.65%, P=0.030; 87.02% vs. 81.85%, P=0.012, respectively). The C allele and TC+CC genotype of rs17154444 were more prevalent in patients with severe UC than in other patients (14.00% vs. 6.01%, P<0.01; 28.00% vs. 11.48%, all P<0.01). Similar conclusion may also be drawn for C allele and GC+CC genotype of rs7785539 (8.00% vs. 7.38%, P=0.011; 16.00% vs. 13.93%, P=0.017, respectively). The SNPs rs17154444, rs7810937, rs7785539 and rs2108225 were found to be in strong LD. Compared with the controls, the T-A-G-G haplotype was more prevalent in UC patients (62.60% vs. 58.20%, P=0.017), whereas the T-G-G-A haplotype was less common in UC patients (27.40% vs. 31.60%, P=0.041).
Variations of the SLC26A3 rs2108225 may enhance the risk of UC. The rs17154444 and rs7785539 polymorphisms of the SLC26A3 gene are correlated with the severity of UC. The T-A-G-G haplotype formed by rs17154444, rs781093, rs7785539 and rs2108225 of the SLC26A3 gene may increase the risk for UC, whereas the T-G-G-A haplotype may decrease this risk.
评估溶质载体家族26成员A3（SLC26A3）基因的单核苷酸多态性（SNP）和单倍型与中国溃疡性结肠炎（UC）患者的相关性。
采用SNaPshot方法对416例UC患者和584例对照者检测SLC26A3基因的5个SNP（rs17154444、rs7810937、rs7785539、rs2108225和rs6951457）。对所有受试者进行连锁不平衡（LD）和单倍型分析。
与对照组相比，rs2108225的G等位基因和AG + GG基因型在UC患者中更为常见（分别为65.14%对58.65%，P = 0.030；87.02%对81.85%，P = 0.012）。rs17154444的C等位基因和TC + CC基因型在重度UC患者中比其他患者更为常见（14.00%对6.01%，P < 0.01；28.00%对11.48%，所有P < 0.01）。rs7785539的C等位基因和GC + CC基因型也有类似结论（分别为8.00%对7.38%，P = 0.011；16.00%对13.93%，P = 0.017）。发现SNP rs17154444、rs7810937、rs7785539和rs2108225处于强LD状态。与对照组相比，T - A - G - G单倍型在UC患者中更为常见（62.60%对58.20%，P = 0.017），而T - G - G - A单倍型在UC患者中较少见（27.40%对31.60%，P = 0.041）。
SLC26A3 rs2108225的变异可能增加UC风险。SLC26A3基因的rs17154444和rs7785539多态性与UC的严重程度相关。由SLC26A3基因的rs17154444、rs781093、rs7785539和rs2108225形成的T - A - G - G单倍型可能增加UC风险，而T - G - G - A单倍型可能降低这种风险。
