title: Genetic polymorphisms and cerebrovascular disease in children with sickle cell anemia from Rio de Janeiro, Brazil.
abstract: The aim of the present work was to examine possible genetic risk factors related to the occurrence of cerebrovascular disease (CVD) in Brazilian population, the frequency of β(S)-globin gene haplotypes and co-inheritance with α-thalassemia (-α(3.7kb)) and single nucleotide polymorphism of methylenetetrahydrofolate reductase (MTHFR-C677T), Factor V Leiden (FV-G1691A) and prothrombin (PT-G20210A) genes in children from Rio de Janeiro. Ninety four children with sickle cell anemia (SCA) were included, 24 patients with cerebrovascular involvement and 70 patients without CVD as control group. The mean age of children at the time of the cerebrovascular event was similar to the control group. The frequency of -α(3.7kb) thalassemia was similar in both groups (p=0.751). Children with Bantu/Atypical β(S)-globin gene haplotype presented 15 times more chance (OR=15.4 CI 95% 2.9-81.6) of CVD than the other β(S)-globin gene haplotypes. The C677T polymorphism of MTHFR gene was similar in both groups (p=0.085). No mutation in the FV Leiden or PT genes was found. A large study seems necessary to establish the role of these genetic polymorphisms in Brazilian miscegenated population.
authors.affiliation: Instituto de Pesquisa Clínica Evandro Chagas, Fundação Oswaldo Cruz, Rio de Janeiro, RJ, Brazil. filho40@gmail.com
authors.forename: Isaac Lima da Silva
authors.initials: IL
authors.lastname: Filho
authors.forename: Ana Claudia Celestino Bezerra
authors.initials: AC
authors.lastname: Leite
authors.forename: Patrícia Gomes
authors.initials: PG
authors.lastname: Moura
authors.forename: Georgina Severo
authors.initials: GS
authors.lastname: Ribeiro
authors.forename: Andréa Cony
authors.initials: AC
authors.lastname: Cavalcante
authors.forename: Flávia Carolina Marques de
authors.initials: FC
authors.lastname: Azevedo
authors.forename: Maria José de
authors.initials: MJ
authors.lastname: Andrada-Serpa
mesh_terms: D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000150:complications / Q000235:genetics*; D016022:Case-Control Studies; D002561:Cerebrovascular Disorders / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)