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Association of mitochondrial polymorphism m.709G>A with Behçet's disease
  1. Joana M Xavier1,2,
  2. Niloofar Mojarad Shafiee3,
  3. Fahmida Ghaderi3,
  4. Alexandra Rosa4,
  5. Bahar Sadeghi Abdollahi3,
  6. Abdolhadi Nadji3,
  7. Farhad Shahram3,
  8. Fereydoun Davatchi3,
  9. Sofia A Oliveira1,2
  1. 1Instituto de Medicina Molecular, Lisboa, Portugal
  2. 2Instituto Gulbenkian de Ciência, Oeiras, Portugal
  3. 3Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
  4. 4Unidade Ciências Médicas, Centro Competências das Ciências da Vida, Universidade da Madeira, Funchal, Portugal
  1. Correspondence to Sofia A Oliveira, Instituto de Medicina Molecular, Avenida Professor Egas Moniz, Edifício Egas Moniz, 1649-028 Lisboa, Portugal; aaoliveira{at}

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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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  • Funding This work was supported by the grant from the Research Committee of the Tehran University of Medical Sciences under the registration number 132/714, the PTDC/SAU-GMG/098937/2008 grant and a doctoral fellowship (JMX) from the Portuguese Fundação para a Ciência e a Tecnologia, and a fellowship from the Portuguese Instituto do Emprego e Formação Profissional (JMX).

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval This study received ethics approval from the ethics committees at the Rheumatology Center, Tehran University for Medical Sciences, Iran, and from the Portuguese Institute of Rheumatology, Lisbon, Portugal.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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