韩国人群中线粒体脱氧核糖核酸多态性与白塞病的关联
Associations of Mitochondrial Deoxyribonucleic Acid Polymorphisms With Behçet's Disease in the Korean Population.
作者信息
Kwon Mihye, Yoo Su-Jin, Yoo In Seol, Kim Jinhyun, Kang Seong Wook, Choi In Ah, Lim Mi-Kyoung, Joung Chung-Il
机构信息
Department of Internal Medicine, Konyang University School of Medicine, Myunggok Medical Research Institute, Daejeon, South Korea.
Department of Internal Medicine, Chungnam National University School of Medicine, Daejeon, South Korea.
出版信息
Arch Rheumatol. 2019 Jan 28;34(2):211-219. doi: 10.5606/ArchRheumatol.2019.7113. eCollection 2019 Jun.
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.
目的
本研究旨在在更大的患者群体中检验线粒体单核苷酸多态性（SNP）与白塞病（BD）之间可能存在的关联。
患者与方法
从韩国忠清地区的四家大学医院的98例BD患者（31例男性，67例女性；平均年龄48±2.8岁；范围20至60岁）中采集全血或血沉棕黄层，以及从光阳大学医院的196例年龄和性别匹配的健康对照者（HCs）（62例男性，134例女性；平均年龄46.91±12.90岁；范围20至68岁）中采集样本。使用修订的剑桥参考序列对20个靶向线粒体脱氧核糖核酸（DNA）进行基因分型并比较。采用卡方检验和Fisher精确检验分析线粒体DNA SNP与BD易感性及其临床特征之间的关联。
结果
患者组与HC组在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和m16304T>方面无差异。然而，患者组中m.16182A>C和m.16183A>C的观察频率高于HC组（分别为22例[22.4%]对24例[12.2%]，p = 0.061；32例[32.7%]对42例[21.4%]，p = 0.092），但无统计学意义。m.4883C>T和m.5178C>A与口腔溃疡的后部位置相关（各p = 0.025），m.16183A>C与深部口腔溃疡相关（p = 0.001），而m.16189T>C与深部口腔溃疡和血栓形成相关（分别为p = 0.042、0.048）。
结论
在韩国人群中，m.16182A>C和m.16183A>C可能与BD相关。
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