[The relationship of methylenetetrahydrofolate reductase G1793A gene polymorphism, hyperhomocysteinaemia and ulcerative colitis].
OBJECTIVE
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.
Jiang
Yi
Y
Department of Gastroenterology, Wuhan University Zhongnan Hospital, Wuhan 430071, China.
Zhao
Jie
J
Xu
Chang-long
CL
Cao
Shu-guang
SG
Lin
Li-miao
LM
Lei
Yuan
Y
Huang
Sha
S
Wang
Chang-gao
CG
Xia
Bing
B
D000328:Adult; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000097:blood* / Q000235:genetics*; D005260:Female; D005492:Folic Acid / Q000097:blood; D005494:Folic Acid Deficiency / Q000150:complications; D006710:Homocysteine / Q000097:blood; D006801:Humans; D020138:Hyperhomocysteinemia / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014805:Vitamin B 12 / Q000097:blood
D006710:Homocysteine; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D014805:Vitamin B 12