title: Association of APOA1 and APOA5 polymorphisms and haplotypes with lipid parameters in a Brazilian elderly cohort.
abstract: Apolipoproteins have an important role in lipid metabolism and transport. Polymorphisms in the APOA1/C3/A4/A5 gene cluster have been associated with lipid alterations and cardiovascular diseases. We investigated APOA1 XmnI, APOA5 S19W, and APOA5 -1131T>C polymorphisms in 377 individuals from a cohort of a longitudinal Brazilian elderly study. Allele frequencies, genotype distribution, and association with major morbidities as well as with lipids, creatinine, albumin, urea, glycated hemoglobin, and fasting glucose serum levels were investigated. Linkage disequilibrium and haplotype associations were also analyzed. This is the first time that haplotypes involving these polymorphisms were evaluated. Genotyping was performed by PCR-RFLP. Minor allele frequencies were 0.119, 0.071, and 0.158 for XmnI, S19W, and -1131T>C polymorphisms, respectively. We found a significant association of the -1131C allele with low LDL-C levels. We also observed that XmnI and S19W polymorphisms were in linkage disequilibrium. The C/G haplotype, which is composed of the wild-type allele of XmnI and the minor allele of S19W, was associated with high total cholesterol serum levels in this elderly population. We conclude that the -1131T>C polymorphism and the C/G haplotype, including XmnI and S19W polymorphisms, are associated with alterations in lipid levels and may be risk factors for cardiovascular disease in the Brazilian elderly.
authors.affiliation: Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
authors.forename: T K
authors.initials: TK
authors.lastname: Furuya
authors.forename: E S
authors.initials: ES
authors.lastname: Chen
authors.forename: V K
authors.initials: VK
authors.lastname: Ota
authors.forename: D R
authors.initials: DR
authors.lastname: Mazzotti
authors.forename: L R
authors.initials: LR
authors.lastname: Ramos
authors.forename: M S
authors.initials: MS
authors.lastname: Cendoroglo
authors.forename: L Q
authors.initials: LQ
authors.lastname: Araujo
authors.forename: R R
authors.initials: RR
authors.lastname: Burbano
authors.forename: M A C
authors.initials: MA
authors.lastname: Smith
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016632:Apolipoprotein A-I / Q000235:genetics*; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A / Q000235:genetics*; D001938:Brazil; D002318:Cardiovascular Diseases / Q000235:genetics*; D002784:Cholesterol / Q000097:blood / Q000235:genetics*; D008078:Cholesterol, LDL / Q000097:blood / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C505693:APOA1 protein, human; C437704:APOA5 protein, human; D016632:Apolipoprotein A-I; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A; D008078:Cholesterol, LDL; D002784:Cholesterol