Association Between Variants in the Genes for Leptin, Leptin Receptor and Proopiomelanocortin with Chronic Heart Failure in the Czech Population

VAŠKŮ, Anna, Julie BIENERTOVÁ VAŠKŮ, Lenka ŠPINAROVÁ and Petr BIENERT. Association Between Variants in the Genes for Leptin, Leptin Receptor and Proopiomelanocortin with Chronic Heart Failure in the Czech Population. In European Journal of Human Genetics, suppl. 2009th ed. Vídeň, Rakousko: European Society of Human Genetics, 2009, p. 387-387.

Basic information

Original name

Association Between Variants in the Genes for Leptin, Leptin Receptor and Proopiomelanocortin with Chronic Heart Failure in the Czech Population

Name in Czech

Asociace mezi polymorfismy v genech kódujících leptin, leptinový receptor a proopiomelanokortin a chronickým srdečním selháním u České populace

Authors

VAŠKŮ, Anna, Julie BIENERTOVÁ VAŠKŮ, Lenka ŠPINAROVÁ and Petr BIENERT

Edition

2009. vyd. Vídeň, Rakousko, European Journal of Human Genetics, suppl. p. 387-387, 1 pp. 2009

Publisher

European Society of Human Genetics

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Other information

Language

English

Type of outcome

Stať ve sborníku

Field of Study

Genetics and molecular biology

Country of publisher

Austria

Confidentiality degree

není předmětem státního či obchodního tajemství

Organization unit

Faculty of Medicine

Keywords (in Czech)

leptin; leptinový receptor; proopiomelankortin; chronické srdeční selhání

Keywords in English

leptin; leptin receptor; proopiomelanocortin; chronic heart failure

Tags

chronic heart failure, leptin, leptin receptor, proopiomelanocortin

Tags

International impact, Reviewed

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Abstract

V originále

Abstract: Background: Patients with chronic heart failure (CHF) express enhanced catabolic metabolism resulting in overall weight loss and adipokines are generally recognized to play the crucial role in adipose tissue signaling. The aim of this study was to investigate the possible associations of defined variability in leptin (dbSNP ID rs7799039), proopiomelanocortin (dbSNP ID rs3754860 and dbSNP ID rs1009388) and leptin receptor gene (dbSNP rs1137101) with CHF and evaluate their potential as the CHF susceptibility genes. Methods: The case-control study comprised a total of 372 patients of Caucasian origin with chronic heart failure (functional classes NYHA II-IV, ejection fraction (EF) < 40%) and 407 healthy controls. The subjects were genotyped for the LEP -2548 G/A, LEPR Gln223Arg and POMC RsaI (5-UTR) and C1032G variants (intron 1) by means of PCR-based methodology. Results: No case-control differences in genotypes or allele frequencies as well as POMC haplotypes were observed between CHF patients and controls. In multivariate regression modeling, the LEPR Gln223Arg showed an independent prediction role for CHF, with the A allele being more frequent in CHF under 56y of age (p=0.0002, OR = 1.29, 95% CI = 1.089 - 1.549). Conclusions: Based on our findings, the RR genotype of LEPR Gln223Arg polymorphism might be considered a genetic marker for earlier CHF onset both in ischemic heart disease or dilated cardiomyopathy patients. However, the role of the polymorphic variants in the genes encoding for adipokines as potential CHF susceptibility genes will require further investigation to elucidate the underlying pathophysiological consequences.

In Czech

Na základě našich výsledků se zdá, že polymorfismus Gln23Arg v genu pro leptinový receptor může být považován za genetický marker časného nástupu chronického srdečního selhání, jak u pacientů s ischemickou chorobou srdeční, tak s dilatační kardiomyopatií.