摘要
目的 探讨亚甲基四氢叶酸还原酶（MTHFR）基因C677T和A1298C位点多态性与浙江汉族人群溃疡性结肠炎（UC）的关系.方法 采用限制性片段长度多态性PCR（PCR-RELP）法,在274例UC患者和726例正常对照者中检测MTHFR C677T及A1298C基因多态性分布差异.结果 UC患者中,MTHFR C677T突变等位基因（T）和基因型（CT＋TT）频率与正常对照组相比差异无统计学意义（P＞0.05）;而MTHFR A1298C突变等位基因（C）和基因型（AC＋CC）频率均高于正常对照组（35.77%比29.96%,P=0.013;52.19%比44.90%,P=0.039）.另外,MTHFR 677纯合子突变基因型（TT）、突变等位基因（T）以及677CT/1298AC复合基因型频率在广泛性结肠炎患者中明显高于远端结肠炎（37.66%比14.72%,P=0.0002;49.35%比32.99%,P=0.0004;29.87%比15.23%,P=0.006）;重度UC患者的MTHFR 1298位点突变等位基因（C）频率显著低于（轻＋中）度患者（18.97%比33.88%,P=0.022）.结论 MTHFR C677T及A1298C基因多态性与浙江汉族UC明显相关.
Objective To investigate the association between the genetic polymorphisms of methylenetetrahydrofolate reductase （MTHFR） and ulcerative colitis （UC） of Han ethnic population in Zhejiang, China. Methods Two hundred and seventy-four consecutive patients with UC and 726 healthy controls （HC） were studied. The genetic polymorphisms of MTHFR （C677T and A1298C） were genotyped using PCR-RELP methods. Results The frequencies of variant allele and genotype in MTHFR A1298Cgene were higher in UC patients than in the HC （35.77% vs 29. 96%, P =0. 013; 52. 19% vs 44. 90%,P=0.039; respectively）. However, there were no significant discrepancies of the allele and genotype frequencies in the MTHFR C677T gene between the UC patients and the HC （P 〉 0. 05 ）. In addition, the MTHFR 677Tr homozygote, T allele and 677CT/1298AC compound genotype were more prevalent in patients with extensive colitis than in those with distal colitis （37. 66% vs 14. 72% ,P = 0. 0002; 49. 35% vs 32.99% ,P =0. 0004; 29. 87% vs 15.23% ,P =0. 006; respectively）. Furthermore,the variant allele in the MTHFR A1298C gene （C） in severe UC patients was significantly lower than in mild and moderate UC patients （18.97% vs 33. 88% ,P =0. 022）. Conclusion The genetic polymorphisms of MTHFR C677T and A1298C are obviously associated with Han ethnic population with UC in Zhejiang province.
出处
《中华内科杂志》
CAS
CSCD
北大核心
2011年第5期374-377,共4页
Chinese Journal of Internal Medicine
基金
基金项目：温州市科技局资助项目（Y20080110）
关键词
结肠炎
溃疡性
多态性
单核苷酸
亚甲基四氢叶酸还原酶
Colitis, ulcerative
Polymorphism, single nucleotide
Methylenetetrahydrofolate reductase
