The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in the European Caucasian population: a family-based study

Laurent Jacq, Sophie Garnier, Philippe Dieudé, Laëtitia Michou, Céline Pierlot, Paola Migliorini, Alejandro Balsa, René Westhovens, Pilar Barrera, Helena Alves, Carlos Vaz, Manuela Fernandes, Dora Pascual-Salcedo, Stefano Bombardieri, Jan Dequeker, Timothy R Radstake, Piet Van Riel, Leo van de Putte, Antonio Lopes-Vaz, Elodie GlikmansSandra Barbet, Sandra Lasbleiz, Isabelle Lemaire, Patrick Quillet, Pascal Hilliquin, Vitor Hugo Teixeira, Elisabeth Petit-Teixeira, Hamdi Mbarek, Bernard Prum, Thomas Bardin, François Cornélis, European Consortium on Rheumatoid Arthritis Families

Research output: Contribution to JournalArticleAcademicpeer-review


The integrin alpha(v)beta3, whose alpha(v) subunit is encoded by the ITGAV gene, plays a key role in angiogenesis. Hyperangiogenesis is involved in rheumatoid arthritis (RA) and the ITGAV gene is located in 2q31, one of the suggested RA susceptibility loci. Our aim was to test the ITGAV gene for association and linkage to RA in a family-based study from the European Caucasian population. Two single nucleotide polymorphisms were genotyped by PCR-restriction fragment length polymorphism in 100 French Caucasian RA trio families (one RA patient and both parents), 100 other French families and 265 European families available for replication. The genetic analyses for association and linkage were performed using the comparison of allelic frequencies (affected family-based controls), the transmission disequilibrium test, and the genotype relative risk.We observed a significant RA association for the C allele of rs3738919 in the first sample (affected family-based controls, RA index cases 66.5% versus controls 56.7%; P = 0.04). The second sample showed the same trend, and the third sample again showed a significant RA association. When all sets were combined, the association was confirmed (affected family-based controls, RA index cases 64.6% versus controls 58.1%; P = 0.005). The rs3738919-C allele was also linked to RA (transmission disequilibrium test, 56.5% versus 50% of transmission; P = 0.009) and the C-allele-containing genotype was more frequent in RA index cases than in controls (RA index cases 372 versus controls 339; P = 0.002, odds ratio = 1.94, 95% confidence interval = 1.3-2.9). The rs3738919-C allele of the ITGAV gene is associated with RA in the European Caucasian population, suggesting ITGAV as a new minor RA susceptibility gene.

Original languageEnglish
Pages (from-to)R63
JournalArthritis Research & Therapy
Issue number4
Publication statusPublished - 2007


  • Adult
  • Alleles
  • Arthritis, Rheumatoid
  • DNA Mutational Analysis
  • Europe
  • European Continental Ancestry Group
  • Family Health
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Integrin alphaV
  • Linkage Disequilibrium
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Journal Article
  • Multicenter Study
  • Research Support, Non-U.S. Gov't


Dive into the research topics of 'The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in the European Caucasian population: a family-based study'. Together they form a unique fingerprint.

Cite this