Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

Abstract

ABSTRACT. Venous thromboembolism (VTE) is an important cause of morbidity and mortality stemming from cardiovascular disease. It is a multifactorial disease caused by a combination of acquired risk factors, of which advanced age is the most significant, and genetic factors, including the variants FV G1691A, FII G20210A, and MTHFR C677T. We estimated the prevalence of these genomic variants in an elderly population of northeastern Brazil. The study included 188 elderly persons (65-93 years), of which 68 (36.2%) were men and 120 (63.8%) were women. Variants were detected by polymerase chain reaction-3699 FV G1691A, FII G20210A, and MTHFR C677T in the elderly ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (3): 3698-3707 (2013) restriction fragment length polymorphism analysis, and subsequent electrophoresis on an 8% polyacrylamide gel stained with silver nitrate. The study population was in Hardy-Weinberg equilibrium for the 3 loci. Of the individuals analyzed, none carried variants of FV or FII (0%), and 24.7% had the MTHFR C677T polymorphism: 59 subjects (31.4%) were heterozygous (CT) and 17 subjects (9%) were homozygous (TT). Based on the analysis of these particular genes, we conclude that the study population does not present an increased risk for the development of VTE. Faced with a growing aging population worldwide, similar studies in other countries will help in the prevention of VTE in older individuals.

Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women

“…The prevalence of the homozygous mutant genotype (677TT) in Brazil ranges from 2.7 to 17.5%. In contrast, the prevalence of this genotype in people of African descent in the United States and South America, and in Hispanic Americans and Colombians, is about 1 and 20%, respectively (Sharp and Little, 2004;Ferreira-Fernandes et al, 2013). These results agree with data obtained from 1000 Genomes and HapMap (Table 2).…”

Polymorphisms in methylenetetrahydrofolate reductase and cystathionine beta-synthase in oral cancer – a case–control study in southeastern Brazilians

“…In Indians, the frequency of TT genotype is below 1 percent, 20 whereas among Mexicans, it is above 30 percent; the TT genotype in our controls showed a 10.8 percent frequency, which is comparable to previous reports from Chinese and Puerto Rican populations, 27 , 35 , 36 , 37 and also in regions of Brazil. 38 , 39 , 40 The frequencies of TT genotype demonstrated in studies with populations in southeastern Brazil range from 4.4 percent to 14 percent in the state of São Paulo. 39 , 41 , 42 Control prevalence of variant MTHFR A1298C genotypes (CC) in our study was 4.9 percent, in agreement with studies in northeastern Brazil and also in other populations of the world, such as Chinese, Japanese, Polish, Italian and Americans 19 , 43 , 44 , 45 , 46 , 47 , 48 ; however, there was little difference from frequencies observed in the state of São Paulo, with frequencies of 6.1 percent and 8.8 percent.…”

Primary prevention of neural tube defects in Brazil: insights into anencephaly

“…Other folates and NTD-related genes, such as methylenetetra-hydrofolate dehydrogenase (MTHFD), have not been evaluated in Brazilian population yet. Brazilian antecedents on the prevalence of the 677C>T mutation came from different populations and ethnic groups and in general, they indicated a prevalence below 10 % of TT homozygous individuals and higher prevalence of the mutation in individuals with European than African or Amerindian ancestry (Ferreira-Fernandes et al 2013;Franco et al 1998;Brandalize et al 2007;Arruda et al 1998). …”