Article Text

Download PDFPDF
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}

Statistics from

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 …

View Full Text

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.