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Abstract
Background: Atherosclerosis—a major cause of vascular disease, including ischemic heart disease (IHD), is a pathology that has a two-fold higher mortality rate in the Azorean Islands compared to mainland Portugal.
Aim: This cross-sectional study investigated the role of genetic variation in the prevalence of atherosclerosis in this population.
Subjects and methods: A total of 305 individuals were characterized for polymorphisms in eight susceptibility genes for atherosclerosis: ACE, PAI1, NOS3, LTA, FGB, ITGB3, PON1 and APOE. Data were analysed with respect to phenotypic characteristics such as blood pressure, lipid profile, life-style risk factors and familial history of myocardial infarction.
Results: In the total sample, frequencies for hypercholestrolemic, hypertensive and obese individuals were 63.6%, 39.3% and 23.3%, respectively. The genetic profile was similar to that observed in other European populations, namely in mainland Portugal. No over-representation of risk alleles was evidenced in this sample.
Conclusions: One has to consider the possibility of an important non-genetic influence on the high cholesterolemia present in the Azorean population. Since diet is the most important life-style risk factor for dyslipidemia, studies aiming to evaluate the dietary characteristics of this population and its impact on serum lipid levels will be of major importance.
Acknowledgements
The authors are grateful to Jorge Morgado (Health Centre of Nordeste), Jorge Oliveira (Health Centre of Povoação), Emiliana Dias (Health Centre of Sta Cruz das Flores), Maria João Carreiro (Health Centre of Vila Franca do Campo), Joaquim Ferreira da Silva (Health Centre of Sta Cruz da Graciosa), José Aires Raposo (Health Centre of Ribeira Grande) and Helena Gago da Câmara (Atlantilab laboratory) and to all the technical staff for their support in blood collection and in the determination of serum lipid profile.
Declaration of interest: This work was supported by the project ‘Search for nuclear and mitochondrial biomarkers of atherosclerosis in isolated populations from Azores Islands’ reference M2.1.2/F/009/2007, funded by the Regional Government of the Azores and ‘High Prevalence pathologies in the Azores: Genomic and biochemical markers’, funded by DRCT, in the scope of the Biotechnology and Biomedicine Institute of the Azores (IBBA) (M2.1.2/I/026/2008). T.C. [SFRH/BPD/38659/2007] and C.B. [SFRH/BPD/63121/2009] are recipients of Post-doctoral grants from Fundação para a Ciência e a Tecnologia. N.K. [M3.1.3/F/004/2009] is a recipient of a Post-doctoral grant from the Secretaria Regional da Ciência, Tecnologia e Equipamentos. R.F. is a PhD grantee of Fundação para a Ciência e a Tecnologia [SFRH/BD/34322/2007]. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.