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Association of the IFIH1-GCA-KCNH7 chromosomal region with rheumatoid arthritis
  1. A Martínez1,
  2. J Varadé1,
  3. J R Lamas2,
  4. M Fernández-Arquero3,
  5. J A Jover4,
  6. E G de la Concha5,
  7. B Fernández-Gutiérrez6,
  8. E Urcelay7
  1. 1
    Immunology Department, Hospital Clínico San Carlos, Madrid, Spain
  2. 2
    Rheumatology Department, Hospital Clínico San Carlos, Madrid, Spain
  3. 3
    Immunology Department, Hospital Clínico San Carlos, Madrid, Spain
  4. 4
    Rheumatology Department, Hospital Clínico San Carlos, Madrid, Spain
  5. 5
    Immunology Department, Hospital Clínico San Carlos, Madrid, Spain
  6. 6
    Rheumatology Department, Hospital Clínico San Carlos, Madrid, Spain
  7. 7
    Immunology Department, Hospital Clínico San Carlos, Madrid
  1. Dr Elena Urcelay, Department of Immunology, Hospital Clinico San Carlos, C/Martin Lagos s/n, 28040 Madrid, Spain; eurcelay.hcsc{at}salud.madrid.org

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The cause of rheumatoid arthritis (RA) remains unknown, although both genetic and environmental factors are involved. A genome-wide association study of non-synonymous single nucleotide polymorphisms (SNPs) showed the involvement of rs1990760, a change Ala946Thr in the IFIH1 interferon induced helicase gene, in type 1 diabetes risk.1 Further analyses of the locus surrounding this marker obtained compelling statistical support of the genetic equivalence of some other SNPs in strong linkage disequilibrium with rs1990760, making it impossible to ascertain the aetiological variant. The associated chromosomal region in 2q24.3 includes three genes: IFIH1, also known as helicard or melanoma differentiation associated gene-5 (mda-5)2; grancalcin (GCA); and a potassium voltage gated channel (KCNH7). We analysed three variants along this region to investigate whether this locus is involved in RA, another autoimmune disease.

We replicated the effect …

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