中华内科杂志
中華內科雜誌
중화내과잡지
CHINESE JOURNAL OF INTERNAL MEDICINE
2011年
5期
374-377
,共4页
徐昌隆%林秀清%蓝德云%王建嶂%郑波%薛战雄
徐昌隆%林秀清%藍德雲%王建嶂%鄭波%薛戰雄
서창륭%림수청%람덕운%왕건장%정파%설전웅
结肠炎,溃疡性%多态性,单核苷酸%亚甲基四氢叶酸还原酶
結腸炎,潰瘍性%多態性,單覈苷痠%亞甲基四氫葉痠還原酶
결장염,궤양성%다태성,단핵감산%아갑기사경협산환원매
Colitis,ulcerative%Polymorphism,single nucleotide%Methylenetetrahydrofolate reductase
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.
目的 探討亞甲基四氫葉痠還原酶(MTHFR)基因C677T和A1298C位點多態性與浙江漢族人群潰瘍性結腸炎(UC)的關繫.方法 採用限製性片段長度多態性PCR(PCR-RELP)法,在274例UC患者和726例正常對照者中檢測MTHFR C677T及A1298C基因多態性分佈差異.結果 UC患者中,MTHFR C677T突變等位基因(T)和基因型(CT+TT)頻率與正常對照組相比差異無統計學意義(P＞0.05);而MTHFR A1298C突變等位基因(C)和基因型(AC+CC)頻率均高于正常對照組(35.77%比29.96%,P=0.013;52.19%比44.90%,P=0.039).另外,MTHFR 677純閤子突變基因型(TT)、突變等位基因(T)以及677CT/1298AC複閤基因型頻率在廣汎性結腸炎患者中明顯高于遠耑結腸炎(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位點突變等位基因(C)頻率顯著低于(輕+中)度患者(18.97%比33.88%,P=0.022).結論 MTHFR C677T及A1298C基因多態性與浙江漢族UC明顯相關.
목적 탐토아갑기사경협산환원매(MTHFR)기인C677T화A1298C위점다태성여절강한족인군궤양성결장염(UC)적관계.방법 채용한제성편단장도다태성PCR(PCR-RELP)법,재274례UC환자화726례정상대조자중검측MTHFR C677T급A1298C기인다태성분포차이.결과 UC환자중,MTHFR C677T돌변등위기인(T)화기인형(CT+TT)빈솔여정상대조조상비차이무통계학의의(P＞0.05);이MTHFR A1298C돌변등위기인(C)화기인형(AC+CC)빈솔균고우정상대조조(35.77%비29.96%,P=0.013;52.19%비44.90%,P=0.039).령외,MTHFR 677순합자돌변기인형(TT)、돌변등위기인(T)이급677CT/1298AC복합기인형빈솔재엄범성결장염환자중명현고우원단결장염(37.66%비14.72%,P=0.0002;49.35%비32.99%,P=0.0004;29.87%비15.23%,P=0.006);중도UC환자적MTHFR 1298위점돌변등위기인(C)빈솔현저저우(경+중)도환자(18.97%비33.88%,P=0.022).결론 MTHFR C677T급A1298C기인다태성여절강한족UC명현상관.
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.
