title: Prevalence of prothrombin G20210A, factor V G1691A (Leiden), and methylenetetrahydrofolate reductase (MTHFR) C677T in seven different populations determined by multiplex allele-specific PCR.
abstract: Individuals belonging to six racial groups (African American, Asian Indian, Caucasian, Hispanic, Korean, Native American), and a seventh group comprised of referred patients with thrombosis were genotyped for the prothrombin G20210A mutation, the factor V G1691A (Leiden) mutation, and the methylenetetrahydrofolate reductase (MTHFR) C677T mutation by multiplexed allele-specific PCR. The prothrombin 20210A and factor V 1691A allele frequencies in the thrombosis patients, 3.2% and 9.5%, were significantly higher than those in the random Caucasians, 1.3% and 1.8%, (p = 0.043 and p <0.001, respectively). The relative risk of venous thrombosis was determined to be 2.4-fold for carriers of the prothrombin 20210A allele (odds ratio = 2.54; 95% confidence interval = 0.94, 6.82) and 4.5-fold for carriers of the factor V 1691A allele (odds ratio = 5.06; 95% confidence interval = 2.25, 11.36). Among the seven populations, significant differences were observed in the MTHFR 677T allele distribution, however this mutation was not determined to be a risk factor for venous thrombosis in the patient group studied, either alone or in combination with the prothrombin 20210A and/or the factor V 1691A allele(s).
authors.affiliation: Diagnostic Laboratories of the Blood Center, Milwaukee, WI 53233, USA. MJHessner@bcsew.edu
authors.forename: M J
authors.initials: MJ
authors.lastname: Hessner
authors.forename: R A
authors.initials: RA
authors.lastname: Luhm
authors.forename: S L
authors.initials: SL
authors.lastname: Pearson
authors.forename: D J
authors.initials: DJ
authors.lastname: Endean
authors.forename: K D
authors.initials: KD
authors.lastname: Friedman
authors.forename: R R
authors.initials: RR
authors.lastname: Montgomery
mesh_terms: D000483:Alleles; D005165:Factor V / Q000235:genetics*; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011516:Prothrombin / Q000235:genetics*; D044469:Racial Groups; D012307:Risk Factors; D013927:Thrombosis / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)