Sinem YALÇINTEPE, Hakan GÜRKAN, Sezgi SARIKAYA SOLAK, Selma Demir ULUSAL, Emine İkbal ATLI, Engin ATLI, Servet ALTAY

Kardiyovasküler Hastalıkların Tanısında Yeni Nesil Dizi Analizi Yöntemi ile Genetik Varyasyonların Tespitinin Önemi

GİRİŞ ve AMAÇ: Kardiyovasküler hastalıklar (KVH) geniş bir hastalık grubu olup, etiyopatogenezinde farklı risk faktörleri olmakla birlikte, genetik faktörler ayrı bir öneme sahiptir. Çalışmamızda, hedefli genlerin moleküler genetik analizinin KVH’da klinik tanıya hangi oranda katkı sağladığını belirlemeyi amaçladık. YÖNTEM ve GEREÇLER: KVH klinik tanısı ile takip edilen 38 hastada, periferik kandan DNA izolasyonu sonrasında 54 OMIM genini kapsayan hedefli panel kullanılarak, Illumina NextSeq550 sisteminde bu 54 genin analizi gerçekleştirildi. BULGULAR: Çalışmaya 23 erkek, 15 kadın olmak üzere dahil edilen hastaların yaş ortalaması kadınlarda 33.6, erkeklerde 32.8 olmak üzere tüm olgularda ortalama 33.1’di. 11 olguda (%28.9) 13 patojenik/olası patojenik varyasyon, 13 (%34.2) olguda 16 klinik önemi bilinmeyen varyasyon (VUS) saptadık. 6’sı patojenik/olası patojenik, 3’ü VUS olmak üzere toplam 9 varyasyon açık erişimli veri tabanlarında bugüne kadar rapor edilmemiş yeni varyasyondu. TARTIŞMA ve SONUÇ: KVH grubunda yeni nesil dizi analizi (NGS), çalışmamızda tanıya % 28.9 oranında bir katkı sağladı. NGS ile, nedeni belirlenemeyen kardiyovasküler hastalık bulgusu olan olgularda, çoklu gen analizi tanı oranlarını arttırmakta, tanı koyma süresini kısaltmaktadır.

The Importance of Detecting Genetic Variations with the New Generation Sequencing Method for the Diagnosis of Cardiovascular Diseases

INTRODUCTION: Cardiovascular diseases (CVD) are a large group of diseases and although there are different risk factors in their etiopathogenesis, genetic factors have a special importance. In our study, we aimed to determine the importance of contribution of molecular genetic analysis of targeted genes in clinical diagnosis of CVD. METHODS: Analysis was performed in the Illumina NextSeq550 system using a targeted panel consisting of 54 OMIM genes after DNA isolation from peripheral blood in 38 patients followed up with a clinical diagnosis of CVD. RESULTS: The average age of the patients included in the study, including 23 men and 15 women, was 33.6 in women, 32.8 in men, and 33.1 in all cases. We detected 13 pathogenic/likely pathogenic variations in 11 cases (28.9%), and 16 variations of unknown clinical significance (VUS) in 13 (34.2%) cases. A total of 9 variations, 6 of which were pathogenic/likely pathogenic, 3 of which were VUS, were the novel variations which were not reported in open access databases up to date. DISCUSSION AND CONCLUSION: The dignosis rate was 28.9% with next generation sequencing (NGS) method in our study in the CVD group. With NGS, in cases with unidentified cardiovascular disease findings, multiple gene analysis increases the diagnosis rates and shortens the diagnosis time.

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