Association between Genetic Variations of MERTK and Chronic Obstructive Pulmonary Disease in Koreans
- 주제(키워드) MERTK , COPD , Haplotype , Association , Functional Characterization , Smoking
- 주제(기타) Medicine, General & Internal
- 설명문(일반) [Kim, Woo Jin] Kangwon Natl Univ, Dept Internal Med, Chunchon, South Korea; [Kim, Woo Jin] Kangwon Natl Univ, Environm Hlth Ctr, Chunchon, South Korea; [Park, Hyo Jin; Choi, Yang Ji; Kwon, Eun Young; Kim, Bo Min; Choi, Ji Ha] Ewha Womans Univ, Coll Med, Tissue Injury Def Res Ctr, Dept Pharmacol, 1071 Anyangcheon Ro, Seoul 07985, South Korea; [Lee, Jin Hwa; Chang, Jung Hyun] Ewha Womans Univ, Coll Med, Dept Internal Med, Div Pulm & Crit Care Med, Seoul, South Korea; [Kang, Jihee Lee] Ewha Womans Univ, Coll Med, Tissue Injury Def Res Ctr, Dept Physiol, Seoul, South Korea
- 발행기관 KOREAN ACAD MEDICAL SCIENCES
- 발행년도 2018
- URI http://www.dcollection.net/handler/ewha/000000151518
- 본문언어 영어
- Published As http://dx.doi.org/10.3346/jkms.2018.33.e56
초록/요약
Background: Chronic 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. Methods: We 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. Results: Ten 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. Conclusion: Our findings indicate that the susceptibility to COPD is not related to the genetic variations or haplotypes of MERTK in Koreans.
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