Association of APOE, GCPII and MMP9 polymorphisms with common diseases and lipid levels in an older adult/elderly cohort

作者：Mazzotti Diego Robles; Singulane Cristiane Carvalho; Ota Vanessa Kiyomi; Rodrigues Thiago Potrich; Furuya Tatiane Katsue; de Souza Fernando Jose; Cordeiro Bruna Grassiela; de Oliveira Amaral Camilla Magalhaes; Chen Elizabeth Suchi; Jacomini Anielli; Cardoso Smith Marilia de Arruda; Borsatto Galera Bianca

来源：Gene, 2014, 535(2): 370-375.

DOI：10.1016/j.gene.2013.11.040

• APOE
• GCPII
• MMP9
• Polymorphisms
• LDL-cholesterol
• Lipid levels

Background and aims: 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 Cuiaba 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 Cuiaba 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 (R) allelic discrimination assay were used for genotyping.
Results: The frequencies of APOE epsilon 2 and epsilon 4 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 epsilon 2 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.

• 出版日期2014-2-10