دورية أكاديمية
Linkage Proof for PTPN22, a Rheumatoid Arthritis Susceptibility Gene and a Human Autoimmunity Gene
| العنوان: | Linkage Proof for PTPN22, a Rheumatoid Arthritis Susceptibility Gene and a Human Autoimmunity Gene |
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| المؤلفون: | Michou, Laëtitia, Lasbleiz, Sandra, Rat, Anne-Christine, Migliorini, Paola, Balsa, Alejandro, Westhovens, René, Barrera, Pilar, Alves, Helena, Pierlot, Céline, Glikmans, Elodie, Garnier, Sophie, Dausset, Jean, Vaz, Carlos, Fernandes, Manuela, Petit-Teixeira, Elisabeth, Lemaire, Isabelle, Pascual-Salcedo, Dora, Bombardieri, Stefano, Dequeker, Jan, Radstake, Timothy R., van Riel, Piet, Putte, Leo, van De, Lopes-Vaz, Antonio, Prum, Bernard, Bardin, Thomas, Dieudé, Philippe, Cornélis, François, Families, European Consortium, On Rheumatoid Arthritis |
| المساهمون: | Laboratoire de recherche européen pour la polyarthrite rhumatoïde (GenHotel), Université d'Évry-Val-d'Essonne (UEVE), Unité de Génétique Clinique Adulte, Hôpital Lariboisière-Fernand-Widal APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University Hospital La Paz, Madrid, Service de Recherche en Hémato-Immunologie (SRHI - UMR_E 05), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Diderot - Paris 7 (UPD7), Laboratoire de Biologie, Centre Hospitalier Sud Francilien, Laboratoire Statistique et Génome (LSG), Institut National de la Recherche Agronomique (INRA)-Université d'Évry-Val-d'Essonne (UEVE)-Centre National de la Recherche Scientifique (CNRS) |
| المصدر: | ISSN: 0027-8424. |
| بيانات النشر: | HAL CCSD National Academy of Sciences |
| سنة النشر: | 2007 |
| المجموعة: | HAL-CEA (Commissariat à l'énergie atomique et aux énergies alternatives) |
| مصطلحات موضوعية: | HLA-DR Antigens, Genetic Linkage, Autoimmunity, Alleles, Rheumatoid, Male, Polymorphism, Linkage Disequilibrium, Humans, Genetic, Genetic Predisposition to Disease, Rheumatoid Factor, Protein Tyrosine Phosphatases, Protein Tyrosine Phosphatase, Non-Receptor Type 22, Non-Receptor Type 1, Adult, Arthritis, Female, Gene Frequency, HLA-DRB1 Chains, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics |
| الوصف: | International audience ; The tyrosine phosphatase PTPN22 allele 1858T has been associated with rheumatoid arthritis (RA) and other autoimmune diseases. RA is the most frequent of those multifactorial diseases. The RA association was usually restricted to serum rheumatoid factor positive disease (RF+). No interaction was shown with HLA-DRB1, the first RA gene. Many case-control studies replicated the RA association, showing an allele frequency increase of approximately 5% on average and large variations of population allele frequencies (2.1-15.5%). In multifactorial diseases, the final proof for a new susceptibility allele is provided by departure from Mendel's law (50% transmission from heterozygous parents). For PTPN22-1858T allele, convincing linkage proof was available only for type 1 diabetes. We aimed at providing this proof for RA. We analyzed 1,395 West European Caucasian individuals from 465 "trio" families. We replicated evidence for linkage, demonstrating departure from Mendel's law in this subset of early RA onset patients. We estimated the overtransmission of the 1858T allele in RF+ families: T = 63%, P \backslashtextless 0.0007. The 1858T allele frequency increased from 11.0% in controls to 17.4% in RF+ RA for the French Caucasian population and the susceptibility genotype (1858T/T or T/C) from 20.2% to 31.6% [odds ratio (OR) = 1.8 (1.2-2.8)]. In conclusion, we provided the linkage proof for the PTPN22-1858T allele and RF+ RA. With diabetes and RA, PTPN22 is therefore a "linkage-proven" autoimmunity gene. PTPN22 accounting for approximately 1% of the RA familial aggregation, many new genes could be expected that are as many leads to definitive therapy for autoimmune diseases. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/17237219; hal-02084378; https://hal.science/hal-02084378Test; PUBMED: 17237219; PUBMEDCENTRAL: PMC1785249 |
| DOI: | 10.1073/pnas.0610250104 |
| الإتاحة: | https://doi.org/10.1073/pnas.0610250104Test https://hal.science/hal-02084378Test |
| رقم الانضمام: | edsbas.D19332EC |
| قاعدة البيانات: | BASE |
| DOI: | 10.1073/pnas.0610250104 |
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