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Looking for missing hypertension footprints in the cardiovascular risk locus 9p21.3
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Elenkova, A.
Shabani, R.
Vasilev, V.
Zacharieva, S.
Fecha
2016-09
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Walters Kluwers
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Abstract
Objective: A region within 9p21.3 has been consistently associated with risk of coronary heart disease, cardiovascular disease or atherosclerosis. Neighboring regions have associations with other chronic diseases including type 2 diabetes. Surprisingly, the 9p21.3 cardiovascular risk region has been repeatedly reported to lack association with conventional risk factors such as hypertension/blood pressure or hyperlipidemia/plasma lipoproteins, leading some authors to suggest that the locus might affect cardiovascular risk via a novel, still unknown alternative route (Holdt & Teupser 2012, 2013, McPherson 2013). We revisited the ‘missing hypertension’ enigma in the light of data from the population of Medellín, Colombia, which has mixed ancestral origins and has been characterized within the 1000 Genomes Project. Design and method: For a cohort of individuals in Medellín (n>350) from whom we had obtained clinical and physiological data, we genotyped 65 SNPs from 9p21.3. Results: In the raw (uncorrected) associations of our selected 9p21.3 SNPs with physiological variables, the strongest were largely for variables or criteria representing blood pressure or hypertension. We found an island (~ 21 kb) within the cardiovascular risk region containing seven genotyped SNPs that showed
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Cardiorespiratory Medicine and Haematology , Medical and Health Sciences




