Session Title: Vasculitis II
Session Type: Abstract Submissions (ACR)
Background/Purpose: Behcet’s disease (BD) is an inflammatory multisystemic disorder. Although precise etiopathogenesis should be elucidated, BD is known to be multifactorial and accumulating data suggest genetic mechanisms for the development of disorder. Variations in genomic DNAs have been investigated vigorously, while studies on mitochondrial DNAs (mtDNAs) are limited. Association between BD and mtDNA alteration is not well known yet, and there is one report about the association of m.709G>A in an Iranian population. This study was performed to investigate the potential association of mitochondrial single nucleotide polymorphisms (mtSNPs) and haplotypes with BD in a Korean population. To identify candidate mtSNPs, our group sequenced complete mtDNA genomes of patients with BD and normal controls and compared the frequency of mtSNPs.
Methods: Blood sample was collected from 20 patients and 10 healthy controls. Complete mtDNA genomes were sequenced using GeneChip® Human Mitochondrial Resequencing Array 2.0(MitoChip v2.0)(Affymetrix, Santa Clara, CA). Raw data (CEL files) were analyzed with GeneChip Sequence Analysis Software (GSEQ 4.1) and revised Cambridge reference sequence (rCRS) was used as reference sequence. Haplotypes were searched with sequences in the hypervariable region 1 and 2 with mtDNA manager (http://mtmanager.yonsei.ac.kr/). Chi square or Fisher’s exact test were used to analyze the association of of mtSNPs between groups and to investigate possible association between clinical characteristics and mtSNPs. (SPSS ver. 18.0)
Results: We sequenced 16545 nucleotides from total of 16569 mitochondrial DNA nucleotides for each individual due to experimental method. With a quality score (QS) of 9, a total of 64 nucleotides were discordant with those of rCRS, and among them 6 discordant nucleotides were observed in all of the patients and healthy controls showing ethnic characteristics. m.200A>G, m.16129G>A, and m.16304T>C were more frequently observed in the patient group, while, m.150C>T was more frequent in the control group although statistically not significant. By Fisher’s exact test, m.16182A>C, m.16183A>C, and m.16189T>C were associated with uveitis (p= 0.041, 0.022, and 0.014 respectively). None of the haplotypes we searched were associated with BD risk statistically, but B4a were more frequently observed in the patient group.(3 versus 0)
Conclusion: We report the first association study between BD and mitochondrial SNPs in a Korean population. In the present study, m.200A>G, m.16129G>A, m.16304T>C and m.150C>T could be novel candidate mtSNPs in BD in a Korean population.
M. H. Kwon,
C. I. Joung,
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ACR Meeting Abstracts - https://acrabstracts.org/abstract/genetic-association-of-mitochondrial-dna-polymorphisms-with-behcets-disease-in-a-korean-population/