• J. Korean Med. Sci. · Feb 2018

    Association between Genetic Variations of MERTK and Chronic Obstructive Pulmonary Disease in Koreans.

    • Woo Jin Kim, Hyo Jin Park, Yang Ji Choi, Eun Young Kwon, Bo Min Kim, Jin Hwa Lee, Jung Hyun Chang, Lee KangJiheeJ0000-0003-0998-3712Department of Physiology, Tissue Injury Defense Research Center, College of Medicine, Ewha Womans University, Seoul, Korea., and Ji Ha Choi.
    • Department of Internal Medicine and Environmental Health Center, Kangwon National University, Chuncheon, Korea.
    • J. Korean Med. Sci. 2018 Feb 12; 33 (7): e56e56.

    BackgroundChronic obstructive pulmonary disease (COPD) is a debilitating lung disease. To date, a large number of clinical studies have been conducted to investigate the association between genetic variations and COPD. However, little is known regarding the genetic susceptibility of Koreans to this disease. MER receptor tyrosine kinase (MERTK) plays important roles in the inhibition of inflammation and in the clearance of apoptotic cells. Here, we investigated the association between genetic variations in MERTK and the development of COPD in Koreans.MethodsWe conducted genetic analysis of MERTK using genomic DNA samples from 87 patients with COPD and 88 healthy controls and compared the frequency of each variation or haplotype between the patient and control groups. Subsequently, the effect of each variation was evaluated using in vitro assays.ResultsTen variations were identified in this study, four of them for the first time. In addition, we found that the frequency of each variation or haplotype was comparable between the patient and control groups. However, we observed that the frequency for the wild-type haplotype was higher in the control group, compared to that in the group of patients with COPD, in the subgroup analysis of current smokers, although the difference was not statistically significant (P = 0.080). In in vitro assays, we observed that none of the variations affected the activity of the promoter or the expression of MERTK.ConclusionOur findings indicate that the susceptibility to COPD is not related to the genetic variations or haplotypes of MERTK in Koreans.© 2018 The Korean Academy of Medical Sciences.

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