Genome-wide association scan in systemic sclerosis identifies MHC region and two additional susceptibility loci On 2q32 and 7q32

Radstake, T. R. D. J., Alizadeh, B. Z., Palomino-Morales, R., Broen, J. C. A., Martin, J-E., Slot, R. T. & Simeon, C., 1-Jan-2009, In : Arthritis & Rheumatism. 60, s10, p. 1262 1 p.

Research output: Contribution to journalMeeting AbstractAcademic

  • Timothy R.D.J. Radstake
  • Behrooz Z. Alizadeh
  • Rogelio Palomino-Morales
  • Jasper C.A. Broen
  • Jose-Ezequiel Martin
  • Ruben T. Slot
  • Carmen Simeon
Purpose: Systemic Sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs that leads to profound disability and premature death. Accumulating evidence point to a strong genetic component that is underlying the susceptibility of SSc. Here we aimed to identify the genetic factors that underly SSc. Method & Results: To identify the genetic traits for SSc, we performed a genome-wide association study comparing 842 European Caucasian SSc cases with 1711 European Caucasian controls exploiting the Illumina human BeadChip. Using a replication cohort comprising 1640 European Caucasian SSc cases and 1700 controls matched for country of origin we aimed to replicate the 11 most strongly non-MHC associated SNPs in the GWAS and replicated the association of STAT4 (P = 4.03E-10). After stratification for SSc phenotype, significant association (P
Original languageEnglish
Pages (from-to)1262
Number of pages1
JournalArthritis & Rheumatism
Issue numbers10
Publication statusPublished - 1-Jan-2009
EventThe ACR/ARHP Annual Scientific Meeting Philadelphia - Philadelphia, United States
Duration: 16-Oct-200921-Oct-2009


The ACR/ARHP Annual Scientific Meeting Philadelphia


Philadelphia, United States

Event: Conference


  • STAT4 protein, rheumatology, genome, systemic sclerosis, college, health practitioner, gene, Caucasian, deregulation, pathogenesis, autoimmune disease, skin, disability, death, fibrosis, genetic trait, genetic association, human, phenotype, female, risk factor, population, stratification, heredity

ID: 36514379