Özbek hastalarda ATFB5 geninin rs2200733 polimorfizmi ile atriyal fibrilasyon arasindaki ilişki

¹Department of Cardiology, Republican Specialized Scientific and Practical Medical Center of Cardiology, Tashkent, Uzbekistan
²Department of Biotechnology, Center for Advanced Technologies, Tashkent, Uzbekistan
³Department of Cardiology, Republican Specialized Scientific and Practical Medical Center of Cardiology, Tashkent, Uzbekistan;Deparment of Cardiology, “Ezgu Niyat” Clinic Hospital, Tashkent, Uzbekistan

Amaç: Atriyal fibrilasyon (AF), en yaygın kardiyak aritmilerden biridir ve morbidite ve mortalitenin önemli bir prediktörüdür. AF, poligenik ve çok nedenli bir hastalıktır. Çeşitli etnik gruplarda, AF gelişimi ile en güçlü ve en bağımsız ilişki, ATFB5 geninin bulunduğu 4q25 lokusu ile bulunmuştur. Literatür verilerinin analizinde, rs2200733 ATFB5 gen polimorfizminin TT genotipinin taşınmasının, AF gelişimi için en uygunsuz genotip olduğu gösterildi. Çalışmanın amacı, Özbek AF hastalarında ATFB5 geninin rs2200733 polimorfizminin genotip ve alellerinin prevalansını belirlemekti.
Yöntemler: Çalışmaya paroksismal (n=20) ve persistan AF’si (n=49) olan 69 Özbek hasta dahil edildi. Kontrol grubu (n=30) AF’si olmayan Özbek hastalardan oluşturuldu. ATFB5 geninin rs2200733 polimorfizminin alelik varyantlarının taşınması için genotipleme, Polimeraz Zincir Reaksiyonu-Restriksiyon Parçacık Uzunluk Polimorfizmi (PCR-RFLP) yöntemi kullanılarak gerçekleştirildi. AF hastalarında ve kontrollerde ATFB5 geninin rs2200733 polimorfizminin CC, CT ve TT genotipleri ve C ve T allellerinin dağılımı karşılaştırıldı.
Bulgular: AF’li 69 hastanın genotiplendirilmesinden sonra, ATFB5 gen rs2200733 polimorfizminin aşağıdaki dağılımı ortaya çıktı: CC genotipi 35 hastada (%50.72), CT genotipi 25 hastada (%36.23) ve TT genotipi 9 (%13.05) hastada bulundu, p<0.001, χ²=22.435. Ayrıca 95 (%68.8) hastada C-alleli, 43 (%31.2) hastada T-alleli tespit edildi (p<0.001, χ²=37.696). Kontrol grubundaki genotiplerin dağılımı şu şekildedir: CC genotipi 17 kişide (%56.7), CT genotipi 12 (%40), TT genotipi ise 1 (%3.3) kişide bulundu (p<0.001, χ²=20.100). Ayrıca 46 (%76.7) hastada C alleli, 14 (%23.3) hastada T alleli saptandı (p<0.001, χ²=32.033). ATFB5 geninin TT genotipinin AF’li hastalarda kontrollere kıyasla anlamlı ölçüde daha yaygın olduğu bulundu (%13.1’e karşı %3.3, p=0.0001).
Sonuç: ATFB5 geninin rs2200733 polimorfizminin TT genotipinin, kontrol bireylerine kıyasla AF’li Özbek hastalarda önemli ölçüde daha yaygın olduğu bulundu.

Interrelation between the rs2200733 polymorphism of the ATFB5 gene and atrial fibrillation in Uzbek patients

Guzal Abdullaeva¹, Alisher Abdullaev², Amayak Kevorkov³, Guzal Abduvaliyeva¹, Nodir Zakirov¹, Ravshanbek Kurbanov¹
¹Department of Cardiology, Republican Specialized Scientific and Practical Medical Center of Cardiology, Tashkent, Uzbekistan
²Department of Biotechnology, Center for Advanced Technologies, Tashkent, Uzbekistan
³Department of Cardiology, Republican Specialized Scientific and Practical Medical Center of Cardiology, Tashkent, Uzbekistan;Deparment of Cardiology, “Ezgu Niyat” Clinic Hospital, Tashkent, Uzbekistan

Objective: Atrial fibrillation (AF) is one of the most common cardiac arrhythmias and a major predictor of morbidity and mortality. AF is a polygenic and polyetiological disease. In various ethnic groups, the strongest and most independent relationship with the development of AF was found with the 4q25 locus, where the ATFB5 gene is located. An analysis of the literature data showed that the carriage of the TT genotype of the rs2200733 ATFB5 gene polymorphism is the most unfavorable genotype for the development of AF. The purpose of the study was to identify the prevalence of genotypes and alleles of the rs2200733 polymorphism of the ATFB5 gene in Uzbek patients with AF.
Methods: The study included 69 Uzbek patients with paroxysmal (n=20) and persistent AF (n=49). The control group (n=30) was composed of Uzbek patients without AF. Genotyping for the carriage of allelic variants of the rs2200733 polymorphism of the ATFB5 gene was performed using the Polymerase Chain Reaction-Restriction Length Polymorphism (PCR-RFLP) method. The distribution of the C and T alleles and the CC, CT, and TT genotypes of the rs2200733 polymorphism of the ATFB5 gene in patients with AF and controls were compared.
Results: After genotyping 69 patients with AF, the following distribution of the ATFB5 gene polymorphism rs2200733 was revealed: the CC genotype was detected in 35 (50.72%) patients, the CT genotype in 25 (36.23%) patients, and the TT genotype in 9 (13.05%) patients (p<0.001, χ²=22.435). Moreover, the C allele was detected in 95 (68.8%) patients, and the T allele was detected in 43 (31.2%) patients (p<0.001, χ²=37.696). The distribution of genotypes in the control group was as follows: the CC genotype was detected in 17 individuals (56.7%), the CT genotype was detected in 12 individuals (40%), and the TT genotype was detected in 1 individual (3.3%) (p<0.001, χ²=20.100). Moreover, the C allele was detected in 46 (76.7%) patients, and the T allele was detected in 14 (23.3%) patients (p<0.001, χ²=32.033). The TT genotype of the ATFB5 gene was found to be significantly more prevalent in patients with AF than in controls (13.1% vs 3.3%, p=0.0001).
Conclusion: The TT genotype of the rs2200733 polymorphism of the ATFB5 gene was found to be significantly more prevalent in Uzbek patients with AF than in controls.

Keywords: Atrial fibrillation (AF), rs2200733 polymorphism, ATFB5 gene

Guzal Abdullaeva, Alisher Abdullaev, Amayak Kevorkov, Guzal Abduvaliyeva, Nodir Zakirov, Ravshanbek Kurbanov. Interrelation between the rs2200733 polymorphism of the ATFB5 gene and atrial fibrillation in Uzbek patients. . 2021; 49(5): 404-409

Sorumlu Yazar: Amayak Kevorkov, Uzbekistan