中华内科杂志
中華內科雜誌
중화내과잡지
CHINESE JOURNAL OF INTERNAL MEDICINE
2010年
8期
675-679
,共5页
蒋益%赵杰%徐昌隆%曹曙光%林李淼%雷媛%黄莎%王昌高%夏冰
蔣益%趙傑%徐昌隆%曹曙光%林李淼%雷媛%黃莎%王昌高%夏冰
장익%조걸%서창륭%조서광%림리묘%뢰원%황사%왕창고%하빙
亚甲基四氢叶酸还原酶%结肠炎,溃疡性%高同型半胱氨酸血症%叶酸%维生素B12%多态性,单核苷酸
亞甲基四氫葉痠還原酶%結腸炎,潰瘍性%高同型半胱氨痠血癥%葉痠%維生素B12%多態性,單覈苷痠
아갑기사경협산환원매%결장염,궤양성%고동형반광안산혈증%협산%유생소B12%다태성,단핵감산
Methylenetetrahydrofolate reductase%Colitis,ulcerative%Hyperhomocysteinemia%Folic acid%Vitamin B12%Polymorphism,single nucleotide
目的 探讨亚甲基四氢叶酸还原酶(MTHFR)G1793A基因多态性、血浆同型半胱氨酸(Hey)、叶酸及维生素B12浓度与溃疡性结肠炎(UC)的关系.方法 在299例UC患者和764例正常对照者中,采用聚合酶链反应-限制性片段长度多态性(PCR-RELP)检测MTHFR G1793A基因多态性,循环酶法检测血浆Hey水平,微粒子免疫化学发光法检测血浆叶酸和维牛素B12浓度.结果 UC组MTHFR 1793(A)等位基因和(GA+AA)基因型频率明显比正常对照组增高(22.24%比14.20%,P<0.001;42.81%比26.97%,P<0.001);血浆Hey水平亦明显高于正常对照组[(20.67±6.42)mmol/L比(13.21±5.11)mmol/L,P<0.001],而叶酸和维生素B12浓度明显降低[(11.37±6.34)nmol/L比(14.89±7.21)nmol/L,P<0.001;(324.15±127.53)pmol/L比(421.54±128.45)pmol/L,P<0.001].另外,UC组中高同型半胱氨酸血症(Hhcy)(Hcy≥15 mmol/L)及叶酸缺乏(叶酸≤7 nmol/L)的发生率显著高于正常对照组(32.44%比25.78%,P=0.029;23.41%比17.01%,P=0.016).结论 MTHFR G1793A基因多态性、Hhcy、叶酸缺乏及低维生素B12水平与湖北汉族UC明显相关.Hcy代谢酶基因可能涉及UC的发病机制.
目的 探討亞甲基四氫葉痠還原酶(MTHFR)G1793A基因多態性、血漿同型半胱氨痠(Hey)、葉痠及維生素B12濃度與潰瘍性結腸炎(UC)的關繫.方法 在299例UC患者和764例正常對照者中,採用聚閤酶鏈反應-限製性片段長度多態性(PCR-RELP)檢測MTHFR G1793A基因多態性,循環酶法檢測血漿Hey水平,微粒子免疫化學髮光法檢測血漿葉痠和維牛素B12濃度.結果 UC組MTHFR 1793(A)等位基因和(GA+AA)基因型頻率明顯比正常對照組增高(22.24%比14.20%,P<0.001;42.81%比26.97%,P<0.001);血漿Hey水平亦明顯高于正常對照組[(20.67±6.42)mmol/L比(13.21±5.11)mmol/L,P<0.001],而葉痠和維生素B12濃度明顯降低[(11.37±6.34)nmol/L比(14.89±7.21)nmol/L,P<0.001;(324.15±127.53)pmol/L比(421.54±128.45)pmol/L,P<0.001].另外,UC組中高同型半胱氨痠血癥(Hhcy)(Hcy≥15 mmol/L)及葉痠缺乏(葉痠≤7 nmol/L)的髮生率顯著高于正常對照組(32.44%比25.78%,P=0.029;23.41%比17.01%,P=0.016).結論 MTHFR G1793A基因多態性、Hhcy、葉痠缺乏及低維生素B12水平與湖北漢族UC明顯相關.Hcy代謝酶基因可能涉及UC的髮病機製.
목적 탐토아갑기사경협산환원매(MTHFR)G1793A기인다태성、혈장동형반광안산(Hey)、협산급유생소B12농도여궤양성결장염(UC)적관계.방법 재299례UC환자화764례정상대조자중,채용취합매련반응-한제성편단장도다태성(PCR-RELP)검측MTHFR G1793A기인다태성,순배매법검측혈장Hey수평,미입자면역화학발광법검측혈장협산화유우소B12농도.결과 UC조MTHFR 1793(A)등위기인화(GA+AA)기인형빈솔명현비정상대조조증고(22.24%비14.20%,P<0.001;42.81%비26.97%,P<0.001);혈장Hey수평역명현고우정상대조조[(20.67±6.42)mmol/L비(13.21±5.11)mmol/L,P<0.001],이협산화유생소B12농도명현강저[(11.37±6.34)nmol/L비(14.89±7.21)nmol/L,P<0.001;(324.15±127.53)pmol/L비(421.54±128.45)pmol/L,P<0.001].령외,UC조중고동형반광안산혈증(Hhcy)(Hcy≥15 mmol/L)급협산결핍(협산≤7 nmol/L)적발생솔현저고우정상대조조(32.44%비25.78%,P=0.029;23.41%비17.01%,P=0.016).결론 MTHFR G1793A기인다태성、Hhcy、협산결핍급저유생소B12수평여호북한족UC명현상관.Hcy대사매기인가능섭급UC적발병궤제.
Objectives The present study aimed to investigate the associations between genetic polymorphism of methylenetetrahydrofolate reductase ( MTHFR) G1793A, plasma homocysteine (Hcy) levels, vitamin status and ulcerative colitis ( UC) in a cohort of patients in Hubei Han nationality. Methods Two hundred and ninty-nine UC patients and 764 age- and sex-matched healthy controls were recruited in this study. Polymorphism of MTHFR G1793A was examined using a PCR-RELP method.Plasma levels of Hcy, folate and vitamin B12 were determined by enzymatic cycling assay and corpuscle immune chemiluminescence assay, respectively.Results Both variant allele and genotype frequencies in MTHFR G1793A gene were significantly higher in the UC patients compared to the controls (22.24% vs 14.20% , P<0.001 ;42.81% vs 26.97%, P < 0.001, respectively).Plasma Hcy levels were increased in UC patients compared to the controls [(20.67 ±6.42)mmol/L vs (13.21 ±5.11)mmol/L, P <0.001] while folate and vitamin B12 concentrations were significantly decreased [(11.37±6.34) nmol/L vs (14.89±7.21) nmol/L, P < 0.001; (324.15±127.53 ) pmol/L vs (421.54±128.45 ) pmol/L, P < 0.001, respectively].Furthermore, hyperhomocysteinaemia (HHcy) and folate deficiency were also more prevalent in the UC patients (32.44% vs 25.78% , P = 0.029; 23.41% vs 17.01%, P =0.016, respectively).Conclusions Genetic polymorphism of MTHFR G1793A Wag strongly associated with UC.HHcy,folate deficiency and low vitamin B12 concentration were common phenomena in the UC patients of Hubei Han nationality.Our findings demonstrate that the genes relmed to Hey metabolism may play an important role in the pathogenesis of UC.
