Vr. Arruda et al., PREVALENCE OF THE MUTATION C677-]T IN THE METHYLENE TETRAHYDROFOLATE REDUCTASE GENE AMONG DISTINCT ETHNIC-GROUPS IN BRAZIL, American journal of medical genetics, 78(4), 1998, pp. 332-335
Vascular disease is a serious public health problem in the industriali
zed world, and is a frequent cause of death among the adult population
of Brazil. Mild hyperhomocysteinemia has been identified as a risk fa
ctor for arterial disease, venous thrombosis, and neural tube defects.
Individuals homozygous for the thermolabile variant of methylenetetra
hydrofolate reductase (MTHFR-T) are found in 5-15% of the general popu
lation and have significantly elevated plasma homocysteine levels whic
h represent one of the genetic risk factors for vascular diseases, We
have analyzed the prevalence of individuals homozygous for the MTHFR-T
in 327 subjects representing the three distinct ethnic groups in Braz
il, The prevalence of homozygotes for the mutated allele MTHFR-T was h
igh among persons of Caucasian descent (10%) and considerably lower am
ong Black (1.45%) and Indians persons populations (1.2%). These data s
uggest that screening for the MTHFR-T allele should help in identifyin
g individuals with a high risk of vascular disease among populations w
ith a heterogeneous background. (C) 1998 Wiley-Liss, Inc.