Association between Genetic Variations of MERTK and Chronic Obstructive Pulmonary Disease in Koreans
- Author:
Woo Jin KIM
1
;
Hyo Jin PARK
;
Yang Ji CHOI
;
Eun Young KWON
;
Bo Min KIM
;
Jin Hwa LEE
;
Jung Hyun CHANG
;
Jihee LEE KANG
;
Ji Ha CHOI
Author Information
- Publication Type:Original Article
- Keywords: MERTK; COPD; Haplotype; Association; Functional Characterization; Smoking
- MeSH: DNA; Genetic Predisposition to Disease; Genetic Variation; Haplotypes; Humans; In Vitro Techniques; Inflammation; Lung Diseases; Protein-Tyrosine Kinases; Pulmonary Disease, Chronic Obstructive; Smoking
- From:Journal of Korean Medical Science 2018;33(7):e56-
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
