J Korean Med Sci.  2018 Feb;33(7):e56. 10.3346/jkms.2018.33.e56.

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

• Kim WJ
• Park HJ
• Choi YJ
• Kwon EY
• Kim BM
• Lee JH
• Chang JH
• Lee Kang J
• Choi JH

• KMID: 2402998
• DOI: http://doi.org/10.3346/jkms.2018.33.e56

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.

Keyword

MERTK; COPD; Haplotype; Association; Functional Characterization; Smoking

MeSH Terms

DNA
Genetic Predisposition to Disease
Genetic Variation*
Haplotypes
Humans
In Vitro Techniques
Inflammation
Lung Diseases
Protein-Tyrosine Kinases
Pulmonary Disease, Chronic Obstructive*
Smoking
DNA
Protein-Tyrosine Kinases