ADAM19, FAM13A, IREB2 Genleri Yaygın Varyantlarının KOAH Yatkınlığı ve Şiddeti ile İlişkisi
Yumrukuz Şenel, Merve
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Chronic obstructive pulmonary disease (COPD) is a heterogenous disease characterized by persistent airway limitation caused by both genetic predisposition and environmental factors. In this study, we aimed to investigate relationship between ADAM19, FAM13A, IREB2 genes previously detected common variants and COPD susceptibility and severity. The clinical data of 110 patients having persistent airway limitation according to COPD definition of GOLD were collected. PCR was performed with the DNA extracted from peripheral blood and specific primers. Then, patients were screened for ADAM19, FAM13A, IREB2 genes common variants using Big Dye terminator on an ABI Prism 3500 genetic analyzer. COPD was significantly related with IREB2 rs2568494 GA genotype. In the patients with FAM13A rs2869967 TC genotype, respiratory insufficiency risk was 3.758 fold increase, mMRC 2 risk was 2.359 fold increase. GOLD B+D rate was higher in the patients with FAM13A TC variant (74.4%) compared to the patients without FAM13A TC variant (55.2%). FEV1 measure was observed to be lower statistically in the patients with ADAM19 rs1422795 AG genotype. IREB2 heterozygote variant may be related with COPD. In case COPD developed in a person with FAM13A TC variant, the disease pattern may be more symptomatic. Similarly, it was detected that ADAM19 heterozygote variant was not related with the disease susceptibility but FEV1 ratio was lower. As a result of this study it was shown that ADAM19, FAM13A, IREB2 genes may be contributor of COPD pathophysiology. Furthermore, associations in different pathways investigated in our study are so important to identify new pathways reflecting COPD heterogeneity.