PMID- 20979787 OWN - NLM STAT- MEDLINE DCOM- 20110111 LR - 20140226 IS - 0578-1426 (Print) IS - 0578-1426 (Linking) VI - 49 IP - 8 DP - 2010 Aug TI - [The relationship of methylenetetrahydrofolate reductase G1793A gene polymorphism, hyperhomocysteinaemia and ulcerative colitis]. PG - 675-9 AB - 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 ninety-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 was 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 related to Hcy metabolism may play an important role in the pathogenesis of UC. FAU - Jiang, Yi AU - Jiang Y AD - Department of Gastroenterology, Wuhan University Zhongnan Hospital, Wuhan 430071, China. FAU - Zhao, Jie AU - Zhao J FAU - Xu, Chang-long AU - Xu CL FAU - Cao, Shu-guang AU - Cao SG FAU - Lin, Li-miao AU - Lin LM FAU - Lei, Yuan AU - Lei Y FAU - Huang, Sha AU - Huang S FAU - Wang, Chang-gao AU - Wang CG FAU - Xia, Bing AU - Xia B LA - chi PT - English Abstract PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - China TA - Zhonghua Nei Ke Za Zhi JT - Zhonghua nei ke za zhi JID - 16210490R RN - 0LVT1QZ0BA (Homocysteine) RN - 935E97BOY8 (Folic Acid) RN - EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2)) RN - P6YC3EG204 (Vitamin B 12) SB - IM MH - Adult MH - Case-Control Studies MH - Colitis, Ulcerative/*blood/*genetics MH - Female MH - Folic Acid/blood MH - Folic Acid Deficiency/complications MH - Homocysteine/blood MH - Humans MH - Hyperhomocysteinemia/etiology/*genetics/metabolism MH - Male MH - Methylenetetrahydrofolate Reductase (NADPH2)/*genetics MH - Middle Aged MH - Polymorphism, Single Nucleotide MH - Vitamin B 12/blood EDAT- 2010/10/29 06:00 MHDA- 2011/01/12 06:00 CRDT- 2010/10/29 06:00 PHST- 2010/10/29 06:00 [entrez] PHST- 2010/10/29 06:00 [pubmed] PHST- 2011/01/12 06:00 [medline] PST - ppublish SO - Zhonghua Nei Ke Za Zhi. 2010 Aug;49(8):675-9.