title: Association of PPARalpha gene polymorphisms and lipid serum levels in a Brazilian elderly population.
abstract: Peroxisome proliferator-activated receptor alpha (PPARalpha) is a nuclear transcription factor strictly involved in lipid and lipoprotein metabolisms. Thus, PPARalpha gene polymorphisms have been investigated as cardiovascular risk factors. We aimed to investigate associations of L162V and intron 7G>C polymorphisms with common morbidities affecting a Brazilian elderly cohort as well as with lipid and protein serum levels. Genotyping was performed by polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP), and allele frequencies were determined. In addition, we performed the linkage disequilibrium analysis. Descriptive statistics, logistic regression analysis, and Student's t-test were used. Rare alleles for L162V and intron 7 G>C polymorphisms showed frequencies of 0.047 and 0.199, respectively. Our data showed that these polymorphisms were in linkage disequilibrium (p=0.0002). Intron 7 G>C polymorphism presented a tendency of association with neoplasia (p=0.053), and C allele was associated with higher HDL (p=0.010), lower triglycerides (p=0.001), and VLDL levels (p=0.003) compared to G allele. These data might suggest a protective role of intron 7 G>C polymorphism in the development of cardiovascular diseases and will help to clarify the importance of PPARalpha polymorphisms as key modulators of lipid metabolism in Brazilian population.
authors.affiliation: Genetics Division, Department of Morphology and Genetics, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
authors.forename: Elizabeth Suchi
authors.initials: ES
authors.lastname: Chen
authors.forename: Diego Robles
authors.initials: DR
authors.lastname: Mazzotti
authors.forename: Tatiane Katsue
authors.initials: TK
authors.lastname: Furuya
authors.forename: Maysa Seabra
authors.initials: MS
authors.lastname: Cendoroglo
authors.forename: Luiz Roberto
authors.initials: LR
authors.lastname: Ramos
authors.forename: Lara Quirino
authors.initials: LQ
authors.lastname: Araujo
authors.forename: Rommel Rodriguez
authors.initials: RR
authors.lastname: Burbano
authors.forename: Marília de Arruda Cardoso
authors.initials: Mde A
authors.lastname: Smith
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001938:Brazil / Q000453:epidemiology; D004247:DNA / Q000097:blood; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006949:Hyperlipidemias / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D015810:Linkage Disequilibrium; D008055:Lipids / Q000097:blood*; D008074:Lipoproteins / Q000097:blood; D008297:Male; D047493:PPAR alpha / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D014280:Triglycerides / Q000097:blood
chemical_list: D008055:Lipids; D008074:Lipoproteins; D047493:PPAR alpha; D014280:Triglycerides; D004247:DNA