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An association has recently been reported between the <jats:italic>PTPN22-620W<\/jats:italic> functional allele and rheumatoid factor-positive (RF<jats:sup>+<\/jats:sup>) rheumatoid arthritis (RA), among other autoimmune diseases. Expected linkage proof for consistency cannot be definitely produced by an affected sib-pair (ASP) analysis. Our aim was therefore to search for linkage evidence with the transmission disequilibrium test.<\/jats:p><jats:p>DNA from the French Caucasian population was available for two samples of 100 families with one RA patient and both parents, and for 88 RA index cases from RA ASP families. Genotyping was carried out by PCR-restriction fragment length polymorphism. The analysis was performed using the transmission disequilibrium test, genotype relative risk and ASP-based analysis.<\/jats:p><jats:p>The transmission disequilibrium test of the <jats:italic>PTPN22<\/jats:italic>-<jats:italic>620W<\/jats:italic> allele revealed linkage and association for RF<jats:sup>+<\/jats:sup> RA (61% of transmission, <jats:italic>P<\/jats:italic> = 0.037). The genotype relative risk showed the risk allele in 34% of RF<jats:sup>+<\/jats:sup> RA patients and in 24% of controls derived from nontransmitted parental chromosomes (<jats:italic>P<\/jats:italic> = 0.047, odds ratio = 1.69, 95% confidence interval = 1.03\u20132.78). The ASP investigation showed no enriched risk allele in RA multiplex families, resulting in a lack of power of ASP analysis, explaining the published negative results.<\/jats:p><jats:p>This study is the first to show linkage of <jats:italic>PTPN22<\/jats:italic> to RF<jats:sup>+<\/jats:sup> RA, consistent with <jats:italic>PTPN22<\/jats:italic> as a new RA gene.<\/jats:p>","DOI":"10.1186\/ar1812","type":"journal-article","created":{"date-parts":[[2005,8,30]],"date-time":"2005-08-30T18:13:30Z","timestamp":1125425610000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":52,"title":["Rheumatoid arthritis seropositive for the rheumatoid factor is linked to the protein tyrosine phosphatase nonreceptor 22-620W allele"],"prefix":"10.1186","volume":"7","author":[{"given":"Philippe","family":"Dieud\u00e9","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Garnier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"La\u00ebtitia","family":"Michou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Petit-Teixeira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elodie","family":"Glikmans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Pierlot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Lasbleiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Bardin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Prum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Corn\u00e9lis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the European Consortium on Rheumatoid Arthritis Families","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2005,8,25]]},"reference":[{"key":"1691_CR1","doi-asserted-by":"publisher","first-page":"2757","DOI":"10.1002\/art.20458","volume":"50","author":"YFJ Osorio","year":"2004","unstructured":"Osorio YFJ, Bukulmez H, Petit-Teixeira E, Michou L, Pierlot C, Cailleau-Moindrault S, Lemaire I, Lasbleiz S, Alibert O, Quillet P, et al: Dense genome-wide linkage analysis of rheumatoid arthritis, including covariates. 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