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The involvement of nuclear genes in Behçet's disease (BD) risk has been investigated, but the role of the mitochondrial DNA (mtDNA) has been completely neglected. Mitochondria are the main intracellular source of reactive oxygen species produced during normal aerobic metabolism via the electron transport chain and since mitochondrial dysfunction may underlie a multitude of clinical features in multifactorial and multisystemic diseases such as BD, we assessed whether mtDNA single nucleotide polymorphisms (SNPs) and haplogroups confer susceptibility to BD.
A total of 615 patients and 434 controls from Iran were enrolled in this study. BD diagnosis was made according to the revised International Criteria for Behçet's Disease1 (ICBD cases). A total of 494 patients also fulfilled the International Study Group2 criteria for diagnosis of BD (ISG cases). We genotyped 19 mtDNA SNPs which are sufficient for classifying our Iranian cohort into their most prevalent haplogroups: West Eurasian R0, H, V, J, T, U, K, N1, N1e'I, I, X and W haplogroups; Eastern Eurasian macrohaplogroup M, D, N (except for haplogroups N1, N1e'I, I, W and X) and R (lineages except R0, JT and UK) haplogroups; and African …
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