Hyperhomocysteinaemia, low folate concentrations and methylene tetrahydrofolate reductase C677T mutation in acute mesenteric venous thrombosis.
OBJECTIVE
Acute mesenteric venous thrombosis (AMVT) was first reported by Fagge and was recognised as a distinct clinical entity by Warreen in 1935. However, its pathogenesis is still unclear. Elevated plasma levels of homocysteine (Hcy) are associated with an increased risk of deep vein thrombosis. This case-control study examines the potential association among hyperhomocysteinaemia (hyper-Hcy), low serum folate and vitamin B(12) levels and the common C677T mutation of the MTHFR gene in patients with AMVT.


METHODS
Sixty-three patients with AMVT and 75 sex- and age-matched healthy controls were recruited, and their plasma Hcy, folate and vitamin B(12) levels were measured by high performance liquid chromatography (HPLC) and immunological assays. The polymorphism of MTHFR C677T was detected by PCR-RFLP.


RESULTS
The mean plasma Hcy levels were significantly higher in patients with AVMT compared with controls (23.5 standard deviation (S.D.) 8.8 vs. 12.6+/-6.6micromoll(-1), P<0.01). The fasting Hcy correlated negatively with folate (AMVT: r=-0.42, P<0.01;


METHODS
r=-0.40, P<0.01). The frequency of homozygous (TT) genotype in MTHFR C677T mutation was significantly higher in patients with AMVT than that in control subjects (33% vs. 17%; chi square (chi(2))=6.31, P<0.05; odds ratio (OR)=2.80; 95% confidence interval (CI): 1.25-6.25). Compared with the control subjects, the mean serum vitamin B(12) levels were lower in patients, but it was not statistically significant (365+/-88pmoll(-1) vs. 408+/-108pmoll(-1), P>0.05).


CONCLUSIONS
Hyper-Hcy and low serum folate levels were associated with an increased risk of AMVT. The homozygous (TT) genotype of MTHFR gene mutation may be a crucial hereditary risk factor in the development of AMVT for a Chinese population.
Department of General Surgery, First Affiliated Hospital, China Medical University, Shenyang, PR China.
J A
JA
He
X H
XH
Hu
Y Y
YY
Fan
J
J
Yang
Z S
ZS
Zhang
C W
CW
Liu
D H
DH
Yang
J
J
Zhang
S J
SJ
Xin
Q
Q
Zhang
Z Q
ZQ
Duan
D000208:Acute Disease; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China; D002851:Chromatography, High Pressure Liquid; D015536:Down-Regulation; D005260:Female; D005492:Folic Acid / Q000097:blood*; D020022:Genetic Predisposition to Disease; D006710:Homocysteine / Q000097:blood*; D006720:Homozygote; D006801:Humans; D020138:Hyperhomocysteinemia / Q000097:blood / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D007118:Immunoassay; D008297:Male; D008641:Mesenteric Vascular Occlusion / Q000097:blood / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D008642:Mesenteric Veins; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016017:Odds Ratio; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018570:Risk Assessment; D012307:Risk Factors; D020246:Venous Thrombosis / Q000097:blood / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D014805:Vitamin B 12 / Q000097:blood; D055815:Young Adult
D015415:Biomarkers; D006710:Homocysteine; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D014805:Vitamin B 12