Interactions of MinK and e-NOS gene polymorphisms appear to be inconsistent predictors of atrial fibrillation propensity, but long alleles of ESR1 promoter TA repeat may be a promising marker [Interakcije polimorfizama MinK i e-NOS gena su dvojbeni predskazatelji fibrilacije atrija, ali dugi ESR1 aleli s TA ponavljanjem u promotorskom dijelu mogli bi biti obećavajući biljeg]

Šmalcelj, Anton and Sertić, Jadranka and Golubić, Karlo and Jurčić, Ljiljana and Banfić, Ljiljana and Brida, Margarita (2009) Interactions of MinK and e-NOS gene polymorphisms appear to be inconsistent predictors of atrial fibrillation propensity, but long alleles of ESR1 promoter TA repeat may be a promising marker [Interakcije polimorfizama MinK i e-NOS gena su dvojbeni predskazatelji fibrilacije atrija, ali dugi ESR1 aleli s TA ponavljanjem u promotorskom dijelu mogli bi biti obećavajući biljeg]. Collegium Antropologicum, 33 (3). pp. 933-937. ISSN 0350-6134

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Abstract

Interactions of MinK and e-NOS Gene Polymorphisms Appear to Be Inconsistent Predictors of Atrial Fibrillation Propensity, but Long Alleles of ESR1 Promoter TA Repeat May Be a Promising Marker. We analyzed minK, e-NOS and ESR1 gene polymorphisms in 40 patients with atrial fibrillation (AF) without major structural heart disease compared to 35 healthy controls. A missense polymorphism in the minK gene with A/G substitution at nucleotide 112 causing serine (S) to glycine (G) change, 786 T/C polymorphism in the 5' flanking region of e-NOS gene and TA polymorphism in the regulatory region of estrogen receptor ESR1 gene with long (> or = 19 TA repeats) and short alleles were examined. Only a slight increase in minK G allele frequency, but with marked excess in AG/TT combination of minK and e-NOS polymorphisms was found in the AF group. The interpretation remains tentative due to small groups precluding statistical significance of differences, possible lab flaws and inconsistencies with earlier data. However, ESR1 long allele homozygotes were strikingly more frequent in the AF than in control group, reaching statistical significance surprisingly in males (p < 0.02). Functional activity of estrogen receptors may be more critical in males than in females with abundance of circulating estrogen. Contrasting the intricate complexity of genetic polymorphisms influencing cardiac rhythm with our modest research, we would limit the conclusion to the plea for further research of ESR1 role in AF.

Abstract in Croatian

INTERAKCIJE POLIMORFIZAMA MINK I E-NOS GENA SU DVOJBENI PREDSKAZATELJI FIBRILACIJE ATRIJA, ALI DUGI ESR1 ALELI S TA PONAVLJANJEM U PROMOTORSKOM DIJELU MOGLI BI BITI OBEĆAVAJĆI BILJEG ----- Analizirali smo polimorfizme minK, e-NOS and ESR1 gena u 40 pacijenata s atrijskom fibrilacijom (AF), a bez veće strukturne bolesti srca, u usporedbi s 35 zdravih ispitanika kontrolne skupine. Ispitivani su misens polimorfizam minK gena s A/G supstitucijom u 112. nukleotidu uzrokujući zamjenu serina (S) glicinom (G), 786 T/C polymorfizam u 5’ pobočnoj regiji e-NOS gena i TA polimorfizam u regulatornoj regiji ESR1 gena za estrogenski receptor s dugim (≥19 TA ponavljanja) i kratkim alelima. U AF skupini nađen je tek lagan porast frekvencije minK G alela, ali s izrazitim viškom AG/TT kombinacije minK i e-NOS polimorfizama. Tumačenje je zasad dvojbeno zbog malih skupina bez dosizanja statističke značajnosti razlika, mogućih laboratorijskih pogrešaka i neslaganja s dosadašnjim podacima. Homozigoti za duge alele ESR1 gena bili su ipak upadljivo češći u AF, nego u kontrolnoj skupini, začudo dosižući statastičku značajnost razlike u muškaraca (p<0,02). Funkcionalna aktivnost estrogenskih receptora mogla bi biti presudnija u muškaraca nego u žena s obiljem cirkulirajućih estrogena. Suprotstavljajući zamršenu složenost genskih polimorfizama koji utječu na srčani ritam skromnosti našeg istraživanja, ograničili bismo zaključak na apel za nastavak istraživanja uloge ESR1 gena u atrijskoj fibrilaciji.

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