title: Hyperhomocysteinemia and the MTHFR C677T mutation in Budd-Chiari syndrome.
abstract: Hyperhomocysteinemia (HH) is a factor that predisposes individuals to thrombosis, and the C677T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) is known to give increased plasma homocysteine. However, little is known about their roles in Budd-Chiari syndrome (BCS). This study evaluated the roles of HH and the MTHFR C677T mutation in patients with BCS. We compared 41 BCS patients with 80 sex- and age-matched healthy controls. The mean plasma homocysteine level was significantly higher in patients with BCS (20.15 +/- 5.78 micromol/L) compared with normal controls (15.80 +/- 6.58 micromol/L), P < 0.01. HH (>19.5 micromol/L in men and >15.0 micromol/L in women) was detected in 15 (36.59%) patients and in 14 (17.5%) controls (odds ratio [OR], 2.72; 95% confidence internal [CI], 1.17-6.32). The prevalence of the mutated MTHFR 677TT genotype and the 677T allele in normal controls was 10.0% and 31.3%, respectively. The mutant 677T homozygotes and alleles were more frequent in patients with BCS than in controls (22.0% vs. 10.0%, 0.025 < P < 0.05; 45.1% vs. 31.3%, 0.025 < P < 0.05). The relative risk of BCS among the carriers of 677TT was significantly increased (OR, 3.3; 95% CI, 1.1-10.0). The mutant MTHFR heterozygous 677C/T carriers were not significantly increased in patients with BCS compared with controls (46.3% vs. < 2.5%, P > 0.05). The relative risk OR of BCS among carriers of 677C/T was 1.6 (95% CI, 0.7-3.6). This study suggests that both HH and the homozygous C677T mutation in the MTHFR gene are important risk factors of BCS.
authors.affiliation: Hebei Provincial People's Hospital, Hebei Medical University. Shijiazhuang, PR China. xiaomei_li@sohu.com
authors.forename: Xiao-Mei
authors.initials: XM
authors.lastname: Li
authors.forename: Ying-Fei
authors.initials: YF
authors.lastname: Wei
authors.forename: Hong-Ling
authors.initials: HL
authors.lastname: Hao
authors.forename: Yu-Bin
authors.initials: YB
authors.lastname: Hao
authors.forename: Li-Shan
authors.initials: LS
authors.lastname: He
authors.forename: Jing-Dong
authors.initials: JD
authors.lastname: Li
authors.forename: Bing
authors.initials: B
authors.lastname: Mei
authors.forename: Su-Yun
authors.initials: SY
authors.lastname: Wang
authors.forename: Chao
authors.initials: C
authors.lastname: Wang
authors.forename: Jun-Xiang
authors.initials: JX
authors.lastname: Wang
authors.forename: Jun-Zhen
authors.initials: JZ
authors.lastname: Zhu
authors.forename: Jin-Quan
authors.initials: JQ
authors.lastname: Liang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D006502:Budd-Chiari Syndrome / Q000201:enzymology / Q000208:ethnology / Q000209:etiology / Q000235:genetics*; D002681:China / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D016017:Odds Ratio; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency / Q000235:genetics*; D017354:Point Mutation; D015995:Prevalence; D012306:Risk; D012307:Risk Factors; D019851:Thrombophilia / Q000150:complications / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)