OBJECTIVE: TNFRSF1A mutations cause TNFRSF1A-associated periodic syndrome (MIM#142680). A recent study suggested that the R92Q mutation was associated with polyarthritis. We aimed to search for this and other TNFRSF1A mutations in rheumatoid arthritis (RA), and to test for linkage. METHODS: The DNA of 100 trio families and 86 index cases of RA-affected sib-pair (ASP) families from the French Caucasian population were investigated by denatured high-performance liquid chromatography for TNFRSF1A mutations in exons 2 to 4. The test for association compared cases and controls (derived from un-transmitted parental chromosomes). The test for linkage relied on the transmission disequilibrium test (TDT) in trio families and cosegregation in ASP families. RESULTS: Only the R92Q mutation was detected--in 2 of the 100 index cases of trio families and in 5 (5.8%) of the index cases of ASP families, but also in 5% of the controls, showing no association with the disease. No RA linkage evidence was found in TDT and ASP RA families. CONCLUSION: This TNFRSF1A investigation in RA from the French Caucasian population showed only the R92Q mutation, with a frequency of 4.5%, but no evidence for RA association or linkage to the disease. The R92Q mutation could be considered to be a low-penetrance variant.
OBJECTIVE:TNFRSF1A mutations cause TNFRSF1A-associated periodic syndrome (MIM#142680). A recent study suggested that the R92Q mutation was associated with polyarthritis. We aimed to search for this and other TNFRSF1A mutations in rheumatoid arthritis (RA), and to test for linkage. METHODS: The DNA of 100 trio families and 86 index cases of RA-affected sib-pair (ASP) families from the French Caucasian population were investigated by denatured high-performance liquid chromatography for TNFRSF1A mutations in exons 2 to 4. The test for association compared cases and controls (derived from un-transmitted parental chromosomes). The test for linkage relied on the transmission disequilibrium test (TDT) in trio families and cosegregation in ASP families. RESULTS: Only the R92Q mutation was detected--in 2 of the 100 index cases of trio families and in 5 (5.8%) of the index cases of ASP families, but also in 5% of the controls, showing no association with the disease. No RA linkage evidence was found in TDT and ASPRA families. CONCLUSION: This TNFRSF1A investigation in RA from the French Caucasian population showed only the R92Q mutation, with a frequency of 4.5%, but no evidence for RA association or linkage to the disease. The R92Q mutation could be considered to be a low-penetrance variant.
Authors: I Aksentijevich; J Galon; M Soares; E Mansfield; K Hull; H H Oh; R Goldbach-Mansky; J Dean; B Athreya; A J Reginato; M Henrickson; B Pons-Estel; J J O'Shea; D L Kastner Journal: Am J Hum Genet Date: 2001-07-06 Impact factor: 11.025
Authors: N Ravet; S Rouaghe; C Dodé; J Bienvenu; J Stirnemann; P Lévy; M Delpech; G Grateau Journal: Ann Rheum Dis Date: 2006-03-28 Impact factor: 19.103
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Authors: F Cornélis; S Fauré; M Martinez; J F Prud'homme; P Fritz; C Dib; H Alves; P Barrera; N de Vries; A Balsa; D Pascual-Salcedo; K Maenaut; R Westhovens; P Migliorini; T H Tran; A Delaye; N Prince; C Lefevre; G Thomas; M Poirier; S Soubigou; O Alibert; S Lasbleiz; S Fouix; C Bouchier; F Lioté; M N Loste; V Lepage; D Charron; G Gyapay; A Lopes-Vaz; D Kuntz; T Bardin; J Weissenbach Journal: Proc Natl Acad Sci U S A Date: 1998-09-01 Impact factor: 11.205
Authors: S Shiozawa; S Hayashi; Y Tsukamoto; H Goko; H Kawasaki; T Wada; K Shimizu; N Yasuda; N Kamatani; K Takasugi; Y Tanaka; K Shiozawa; S Imura Journal: Int Immunol Date: 1998-12 Impact factor: 4.823
Authors: Philippe Dieudé; José Osorio; Elisabeth Petit-Teixeira; Sarah Moreno; Sophie Garnier; Séverine Cailleau-Moindrault; Caroline Stalens; Sandra Lasbleiz; Thomas Bardin; Bernard Prum; François Cornélis Journal: Arthritis Rheum Date: 2004-02
Authors: Keith M Hull; Elizabeth Drewe; Ivona Aksentijevich; Harjot K Singh; Kondi Wong; Elizabeth M McDermott; Jane Dean; Richard J Powell; Daniel L Kastner Journal: Medicine (Baltimore) Date: 2002-09 Impact factor: 1.889
Authors: M A Pelagatti; A Meini; R Caorsi; M Cattalini; S Federici; F Zulian; G Calcagno; A Tommasini; G Bossi; M P Sormani; F Caroli; A Plebani; I Ceccherini; A Martini; M Gattorno Journal: Arthritis Rheum Date: 2011-04