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

D 2009

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 a Petr BIENERT

Základní údaje

Originální název

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

Název česky

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

Autoři

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

Vydání

2009. vyd. Vídeň, Rakousko, European Journal of Human Genetics, suppl. od s. 387-387, 1 s. 2009

Nakladatel

European Society of Human Genetics

Další údaje

Jazyk

angličtina

Typ výsledku

Stať ve sborníku

Obor

Genetika a molekulární biologie

Stát vydavatele

Rakousko

Utajení

není předmětem státního či obchodního tajemství

Organizační jednotka

Lékařská fakulta

Klíčová slova česky

leptin; leptinový receptor; proopiomelankortin; chronické srdeční selhání

Klíčová slova anglicky

leptin; leptin receptor; proopiomelanocortin; chronic heart failure

Štítky

chronic heart failure, leptin, leptin receptor, proopiomelanocortin

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 23. 5. 2009 23:00, prof. MUDr. Julie Dobrovolná, Ph.D.

Anotace

ORIG CZ

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.

Česky

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.

Citovat

VAŠKŮ, Anna, Julie BIENERTOVÁ VAŠKŮ, Lenka ŠPINAROVÁ a 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. 2009. vyd. Vídeň, Rakousko: European Society of Human Genetics, 2009, s. 387-387.

@inproceedings{832756,
   author = {Vašků, Anna and Bienertová Vašků, Julie and Špinarová, Lenka and Bienert, Petr},
   address = {Vídeň, Rakousko},
   booktitle = {European Journal of Human Genetics, suppl.},
   edition = {2009},
   keywords = {leptin; leptin receptor; proopiomelanocortin; chronic heart failure},
   language = {eng},
   location = {Vídeň, Rakousko},
   pages = {387-387},
   publisher = {European Society of Human Genetics},
   title = {Association Between Variants in the Genes for Leptin, Leptin Receptor and Proopiomelanocortin with Chronic Heart Failure in the Czech Population},
   year = {2009}
}

TY  - JOUR
ID  - 832756
AU  - Vašků, Anna - Bienertová Vašků, Julie - Špinarová, Lenka - Bienert, Petr
PY  - 2009
TI  - Association Between Variants in the Genes for Leptin, Leptin Receptor and Proopiomelanocortin with Chronic Heart Failure in the Czech Population
PB  - European Society of Human Genetics
CY  - Vídeň, Rakousko
KW  - leptin
KW  - leptin receptor
KW  - proopiomelanocortin
KW  - chronic heart failure
N2  - 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.
ER  -

VAŠKŮ, Anna, Julie BIENERTOVÁ VAŠKŮ, Lenka ŠPINAROVÁ a Petr BIENERT. Association Between Variants in the Genes for Leptin, Leptin Receptor and Proopiomelanocortin with Chronic Heart Failure in the Czech Population. In \textit{European Journal of Human Genetics, suppl.}. 2009. vyd. Vídeň, Rakousko: European Society of Human Genetics, 2009, s.~387-387.

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