title: Effect of methylenetetrahydrofolate reductase 677 C-T, 1298 A-C, and 1317 T-C on factor V 1691 mutation in Turkish deep vein thrombosis patients.
abstract: Possible effect of three common mutations in (MTHFR 677 C-T; 1317 T-C; 1298 C-A) and FV 1691 G-A mutation was studied in Turkish patients with thrombosis and compared with normal controls. The case-control study included 68 patients with the diagnosis of deep vein thrombosis and 66 controls, consecutively selected among subjects without personal and familial history of atherothrombosis. Patients with deep vein thrombosis were selected if Doppler ultrasonography was positive. Only, the comparison of factor V 1691 G-A mutation revealed statistically significant difference in control (6.06%) and deep vein thrombosis (23.5%) group. Risk assessment of double prothrombotic gene alterations revealed only FV 1691 G-A mutation as an independent risk factor for thrombosis (odds ratio 4.7 [1.5-15.0]), but our data suggested that MTHFR 677 has effect on its own (odds ratio 1.97 [0.6-2.7]) but may have synergy with FV 1691 G-A (odds ratio 8.12 [2.0-25.3]). However, MTHFR 1298 A-C and 1317 T-C does not have any effect; furthermore, being heterozygote at two different loci or homozygosity at least in a locus for 677 and 1298 revealed a significant increase (odds ratio 9 and 24 [1.3-59.3 and 2.3-240.3]) between these two groups.
authors.affiliation: Ankara University Department of Pediatric Molecular Genetics, Turkey. hejat_akar@hotmail.com
authors.forename: N
authors.initials: N
authors.lastname: Akar
authors.forename: E
authors.initials: E
authors.lastname: Akar
authors.forename: R
authors.initials: R
authors.lastname: Akçay
authors.forename: F
authors.initials: F
authors.lastname: Avcu
authors.forename: A
authors.initials: A
authors.lastname: Yalcin
authors.forename: S
authors.initials: S
authors.lastname: Cin
mesh_terms: D016022:Case-Control Studies; D005165:Factor V / Q000187:drug effects* / Q000235:genetics*; D005787:Gene Frequency; D006720:Homozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D020125:Mutation, Missense; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics* / Q000494:pharmacology*; D017354:Point Mutation; D012307:Risk Factors; D014421:Turkey / Q000453:epidemiology; D020246:Venous Thrombosis / Q000097:blood / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D005165:Factor V; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)