Proopiomelanocortin gene variability and chronic heart failure: no association so far

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Authors

BIENERTOVÁ VAŠKŮ Julie ŠPINAROVÁ Lenka BIENERT Petr VAŠKŮ Anna

Year of publication 2006
Type Article in Proceedings
Conference New Frontiers in Basic Cardiovascular Research
MU Faculty or unit

Faculty of Medicine

Citation
Field Genetics and molecular biology
Keywords genes; chronic heart failure; polymerase chain reaction; proopiomelanocortin
Description Background: Rare mutations in the proopiomelanocortin gene (POMC) have been previously reported to cause early-onset childhood obesity and the POMC locus (2p21) has been linked to leptin levels and body mass index (BMI). Objectives: In this study, we investigated possible associations of C1032G polymorphism (dbSNP ID rs1009388) within the first intron of POMC gene with chronic heart failure. Methods: 247 patients of caucasian origin with chronic heart failure (functional classes NYHA II-IV, ejection fraction (EF) < 40%) have been investigated in comparison to 198 healthy volunteers of similar age and gender distribution. Results: No differences in genotype distributions or allelic frequencies of the examined C1032G POMC polymorphism have been observed when comparing the chronic heart failure patients and the control subjects. There was no association between any of followed patients characteristics (age, gender, diabetes I, II, hyperlipoproteinemia, NYHA class, EF, CRP plasma levels, renin plasma levels, aldosterone plasma levels, big endothelin and endothelin-1 plasma levels, fibrinogene plasma levels and glucose plasma levels) and genotypes of the polymorphism. Conclusions: Based on our results, C1032G polymorphism within the first intron of POMC gene is not associated with chronic heart failure, neither in a case-control study nor when associating specific variants of the examined polymorphism with patients characteristics.
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