title: High incidence of two methylenetetrahydrofolate reductase mutations (C677T and A1298C) in Hispanics.
abstract: Mutations in the 5,10-methylenetetrahydrofolate reductase (MTHFR) and coagulation factors II and V genes have been found at high frequencies in European and American Caucasian populations and are associated with increased risk for thrombophilia, premature coronary artery disease, and a variety of adverse pregnancy outcomes. Hispanic populations in the United States exhibit high levels of some of these conditions, so we initiated a population-based study to determine the frequency of these mutations (MTHFR C677T and A1298C, Factor II G20210A and Factor V G1691A) in this group. We find comparable frequencies of the Factors II and V mutations, but a high incidence of the two MTHFR mutations in a diverse sample of American Hispanics compared to those reported in Caucasians. Prospective studies of Hispanic women with these mutations and pregnancy outcomes will establish if there is a causal relationship.
authors.affiliation: Department of Microbiology and Molecular Genetics and the Center for Human and Molecular Genetics, UMDNJ-New Jersey Medical School, 185 South Orange Avenue, Newark, NJ 07103, USA.
authors.forename: Dondapati
authors.initials: D
authors.lastname: Chowdary
authors.forename: Deanna
authors.initials: D
authors.lastname: Streck
authors.forename: Marvin N
authors.initials: MN
authors.lastname: Schwalb
authors.forename: James J
authors.initials: JJ
authors.lastname: Dermody
mesh_terms: D005165:Factor V / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006630:Hispanic or Latino; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D011516:Prothrombin / Q000235:genetics
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)