title: Association of APOE, GCPII and MMP9 polymorphisms with common diseases and lipid levels in an older adult/elderly cohort.
abstract: OBJECTIVE
  The characterization of candidate gene polymorphisms in elderly populations is an important tool for the identification of risk factors for age-related diseases and conditions. We aimed to genotype the APOE polymorphisms (rs429358 and rs7412), rs61886492 (1561C>T) and rs202720 of GCPII gene and rs3918242 (-1562C>T) of MMP9 gene in an older-adult/elderly cohort from Cuiabá city, Mato Grosso Brazil as well as to characterize risk factors for morbidities and conditions affecting this cohort.
  
  
  METHODS
  The studied population consisted of 570 subjects from Cuiabá city, Brazil, who were subjected to clinical interviews and blood collection for laboratory examinations and DNA extraction. Restriction Fragment Length Polymorphism Polymerase Chain Reaction (RFLP-PCR), sequence-specific primer PCR (SSP-PCR) and TaqMan® allelic discrimination assay were used for genotyping.
  
  
  RESULTS
  The frequencies of APOE ε2 and ε4 were 6.6% and 14.8%, respectively, and the frequencies of GCPII rs61886492 T allele, GCPII rs202720 C allele and MMP9 rs3918242 T allele were, respectively, 3.0%, 26.6% and 10.1%. Significant associations between APOE ε2 allele with lower total cholesterol and LDL-cholesterol were found. In addition, MMP9 rs3918242 T allele was associated with higher LDL-cholesterol levels, suggesting a link between lipid metabolism alteration and cardiovascular disease.
  
  
  CONCLUSIONS
  The present findings contributed to characterize risk factors specific for the studied population and to better understand the molecular physiopathology of common morbidities and conditions affecting older-adult/elderly people.
authors.affiliation: Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo (UNIFESP), Rua Botucatu, 740, Edifício Leitão da Cunha, 1° andar, CEP 04023-900, São Paulo, SP, Brazil.
authors.forename: Diego Robles
authors.initials: DR
authors.lastname: Mazzotti
authors.affiliation: Unidade de Genética, Faculdade de Medicina da Universidade de Cuiabá, UNIC, Cuiabá, Mato Grosso, Brazil.
authors.forename: Cristiane Carvalho
authors.initials: CC
authors.lastname: Singulane
authors.affiliation: Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo (UNIFESP), Rua Botucatu, 740, Edifício Leitão da Cunha, 1° andar, CEP 04023-900, São Paulo, SP, Brazil.
authors.forename: Vanessa Kiyomi
authors.initials: VK
authors.lastname: Ota
authors.affiliation: Unidade de Genética, Faculdade de Medicina da Universidade de Cuiabá, UNIC, Cuiabá, Mato Grosso, Brazil.
authors.forename: Thiago Potrich
authors.initials: TP
authors.lastname: Rodrigues
authors.affiliation: Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo (UNIFESP), Rua Botucatu, 740, Edifício Leitão da Cunha, 1° andar, CEP 04023-900, São Paulo, SP, Brazil.
authors.forename: Tatiane Katsue
authors.initials: TK
authors.lastname: Furuya
authors.affiliation: Unidade de Genética, Faculdade de Medicina da Universidade de Cuiabá, UNIC, Cuiabá, Mato Grosso, Brazil.
authors.forename: Fernando José
authors.initials: FJ
authors.lastname: de Souza
authors.affiliation: Unidade de Genética, Faculdade de Medicina da Universidade de Cuiabá, UNIC, Cuiabá, Mato Grosso, Brazil.
authors.forename: Bruna Grassiela
authors.initials: BG
authors.lastname: Cordeiro
authors.affiliation: Unidade de Genética, Faculdade de Medicina da Universidade de Cuiabá, UNIC, Cuiabá, Mato Grosso, Brazil.
authors.forename: Camilla Magalhães
authors.initials: CM
authors.lastname: de Oliveira Amaral
authors.affiliation: Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo (UNIFESP), Rua Botucatu, 740, Edifício Leitão da Cunha, 1° andar, CEP 04023-900, São Paulo, SP, Brazil.
authors.forename: Elizabeth Suchi
authors.initials: ES
authors.lastname: Chen
authors.affiliation: Unidade de Genética, Faculdade de Medicina da Universidade de Cuiabá, UNIC, Cuiabá, Mato Grosso, Brazil.
authors.forename: Anielli
authors.initials: A
authors.lastname: Jacomini
authors.affiliation: Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo (UNIFESP), Rua Botucatu, 740, Edifício Leitão da Cunha, 1° andar, CEP 04023-900, São Paulo, SP, Brazil. Electronic address: macsmith.morf@epm.br.
authors.forename: Marilia
authors.initials: M
authors.lastname: de Arruda Cardoso Smith
authors.affiliation: Departamento de Ciências Básicas em Saúde, Faculdade de Ciências Médicas, Universidade Federal do Mato Grosso (UFMT), Cuiabá, Mato Grosso, Brazil.
authors.forename: Bianca
authors.initials: B
authors.lastname: Borsatto-Galera
mesh_terms: D000367:Age Factors; D000368:Aged; D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics*; D001938:Brazil; D002268:Carboxypeptidases / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008055:Lipids / Q000097:blood*; D008297:Male; D020780:Matrix Metalloproteinase 9 / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide
chemical_list: D001057:Apolipoproteins E; D008055:Lipids; D002268:Carboxypeptidases; D020780:Matrix Metalloproteinase 9
keywords: AD; APOE; Alzheimer's disease; BMI; CI; CVD; GCPII; HWE; Hardy Weinberg Equilibrium; LDL-cholesterol; Lipid levels; MMP9; OR; Polymorphisms; RFLP-PCR; Restriction Fragment Length Polymorphism-Polymerase Chain Reaction; SNP; SSP-PCR; Sequence-Specific Primer Polymerase Chain Reaction; Single nucleotide polymorphism; apolipoprotein E; body mass index; cardiovascular disease; confidence interval; glutamate carboxipeptidase II; matrix metalloproteinase; odds ratio