Naslov
The role of TA polymorphism in the regulatory region of estrogen receptor ESR1 in patients with atrial fibrillation - preliminary results

Autori
Sertić, Jadranka ; Juričić, Ljiljana ; Golubić, Karlo ; Čvorišćec, Dubravka ; Banfić, Ljiljana ; Brida, Mirna ; Šmalcelj, Anton

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Abstracts of EUROMEDLAB 18th IFCC-EFCC European Congress of Clinical Chemistry and Laboratory Medicine. U: Clin Chem Lab Med 2009 ; 47:S42 / Mario Plebani - Berlin : Walter de Gruyter, 2009, S42-S42

Skup
EUROMEDLAB 18th IFCC-EFCC European Congress of Clinical Chemistry and Laboratory Medicine

Mjesto i datum
Innsbruck, Austrija, 07.06.2009. - 11.06.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
ESR1 estrogen receptor; polymorphism

Sažetak
Background. It appears that atrial fibrillation (AF) may have genetic determinants. Estrogen regulates expression of many genes through estrogen receptor  (gene ESR1) and β (ESR2). ESR1 polymorphisms alter expression of different genes, including those of eNOS and L-type Ca2+ channel gene. The long allele of ESR1 variant has been associated with increased cardiovascular risk profile. Association of ESR1 gene polymorphism with AF in patients without gross structural cardiac abnormality. Those patients were selected to avoid the smothering of inheritance by dominant exogenous factors. Methods. We analyzed TA polymorphism of long-L ( ≥19 TA repeats ; 178-194 bp) and short-S (<19 TA repeats ; 160-176 bp) alleles in regulatory region of estrogen receptor ESR1 by PCR and capillary electrophoresis. The study included 40 patients (23 males, aged 50 ±14.8 and 17 females aged 57 ± 14.2 years) with atrial fibrillation and 35 healthy controls. Only patients without major structural heart disease were included, as inferred from clinical examination, ECG and echocardiography. Results. Long allele of ESR1 gene was more frequent in AF than in control group (52.5 vs 42.9%). ESR1 long allele homozygotes were strikingly more frequent in the AF than in control group, reaching statistical significance in males (p>0.02). Logistic regression analysis revealed male gender and LL allele as the significant risk factors for AF. Conclusions. Functional activity of estrogen receptors may be more critical in males than in females with abundance of circulating estrogen. These preliminary results point at the need for further research of ESR1 role in AF.

Izvorni jezik
Engleski

POVEZANOST RADA