Mihye KWON1, Su-jin YOO2, In Seol YOO2, Jinhyun KIM2, Seong Wook KANG2, In Ah CHOI3, Mi-kyoung LIM4, Chung-il JOUNG1

1Department of Internal Medicine, Konyang University School of Medicine, Myunggok Medical Research Institute, Daejeon, South Korea
2Department of Internal Medicine, Chungnam National University School of Medicine, Daejeon, South Korea
3Department of Internal Medicine, Chungbuk National Univeristy School of Medicine, Cheonan, South Korea
4Department of Internal Medicine, Eulji University School of Medicine, Daejeon, South Korea

Keywords: Behçet’s disease, etiology, mitochondrial deoxyribonucleic acid, single nucleotide polymorphism

Abstract

Objectives: This study aims to examine the possible associations of mitochondrial single nucleotide polymorphisms (SNPs) and Behçet’s disease (BD) in a larger patient group.
Patients and methods: Whole blood or buffy coat was collected from 98 BD patients (31 males, 67 females; mean age 48±2.8 years; range 20 to 60 years) from four university hospitals located in the Chung-Cheong district of the Republic of Korea, and 196 age- and sex-matched healthy controls (HCs) (62 males, 134 females; mean age 46.91±12.90 years; range 20 to 68 years) from Konyang University Hospital. Twenty targeted mitochondrial deoxyribonucleic acids (DNAs) were genotyped and compared using the revised Cambridge Reference Sequence. Chi square and Fisher’s exact tests were used to analyze association of mitochondrial DNA SNPs with BD susceptibility and its clinical characteristics.
Results: There were no differences for m.248A>G, m.304C>A, m.709G>A, m.3010G>A, m.3970C>T, m.4883C>T, m.5178C>A, m.6392T>C, m.6962G>A, m.10310G>A, m.10609T>C, m.12406G>A, m.12882C>T, m.13928G>C, m.14668C>T, m.16129G>A, and m16304T> between patient and HC groups. However, m.16182A>C and m.16183A>C were more frequently observed in the patient group than the HC group (22 [22.4%] vs. 24 [12.2%], p=0.061 and 32 [32.7%] vs. 42 [21.4%], p=0.092) but without statistical significance. m.4883C>T and m.5178C>A were associated with posterior location of oral ulcers (p=0.025 for each) and m.16183A>C was associated with deep oral ulcers (p=0.001), while m.16189T>C was associated with deep oral ulcers and thrombosis (p=0.042, 0.048, respectively).
Conclusion: m.16182A>C and m.16183A>C may be associated with BD in the Korean population.