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Association between genetic variations of MERTK and chronic obstructive pulmonary disease in Koreans

Title
Association between genetic variations of MERTK and chronic obstructive pulmonary disease in Koreans
Authors
Kim W.J.Park H.J.Choi Y.J.Kwon E.Y.Kim B.M.Lee J.H.Chang J.H.Kang J.L.Choi J.H.
Ewha Authors
이지희장중현이진화최지하
SCOPUS Author ID
이지희scopus; 장중현scopus; 이진화scopus; 최지하scopus
Issue Date
2018
Journal Title
Journal of Korean Medical Science
ISSN
1011-8934JCR Link
Citation
Journal of Korean Medical Science vol. 33, no. 7
Keywords
AssociationCOPDFunctional characterizationHaplotypeMERTKSmoking
Publisher
Korean Academy of Medical Science
Indexed
SCI; SCIE; SCOPUS; KCI WOS scopus
Document Type
Article
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. © 2018 The Korean Academy of Medical Sciences.
DOI
10.3346/jkms.2018.33.e56
Appears in Collections:
의과대학 > 의학과 > Journal papers
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