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https://repository.monashhealth.org/monashhealthjspui/handle/1/41011| Title: | The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females. | Authors: | Finkel T.H.;Ellis J.A.;Ponsonby A.-L.;Hakonarson H.;Chiaroni-Clarke R.C.;Li Y.R.;Munro J.E.;Chavez R.A.;Scurrah K.J.;Pezic A.;Akikusa J.D.;Allen R.C.;Piper S.E.;Becker M.L.;Thompson S.D.;Lie B.A.;Flato B.;Forre O.;Punaro M.;Wise C.;Saffery R. | Institution: | (Chiaroni-Clarke, Chavez, Ellis) Genes, Environment and Complex Disease, Murdoch Childrens Research Institute, 50 Flemington Road, Parkville, VIC 3052, Australia (Chiaroni-Clarke, Chavez, Saffery, Ponsonby, Ellis) Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia (Li) Medical Scientist Training Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States (Li, Hakonarson) Center for Applied Genomics, Department of Pediatrics, Abramson Research Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States (Munro, Akikusa, Allen) Paediatric Rheumatology Unit, Royal Children's Hospital, Parkville, VIC, Australia (Munro, Akikusa, Allen) Arthritis and Rheumatology Research, Murdoch Childrens Research Institute, Parkville, VIC, Australia (Scurrah) Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Parkville, VIC, Australia (Pezic, Ponsonby) Environmental and Genetic Epidemiology Research, Murdoch Childrens Research Institute, Parkville, VIC, Australia (Piper) Department of Paediatric Rheumatology, Monash Children's Hospital, Monash Medical Centre, Clayton, VIC, Australia (Becker) Division of Rheumatology and Clinical Pharmacology, Medical Toxicology and Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, MO, United States (Thompson) Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States (Lie) Department of Immunology, Oslo University Hospital, University of Oslo, Oslo, Norway (Flato, Forre) Department of Rheumatology, Oslo University Hospital, Oslo, Norway (Punaro) Pediatric Rheumatology, Texas Scottish Rite Hospital for Children, Dallas, TX, United States (Wise) Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, United States (Saffery) Cancer and Disease Epigenetics, Murdoch Childrens Research Institute, Parkville, VIC, Australia (Finkel) Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, United States (Finkel, Hakonarson) Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States | Issue Date: | 24-Aug-2015 | Copyright year: | 2015 | Publisher: | Nature Publishing Group (Houndmills, Basingstoke, Hampshire RG21 6XS, United Kingdom) | Place of publication: | United Kingdom | Publication information: | Genes and Immunity. 16 (7) (pp 495-498), 2015. Date of Publication: 01 Oct 2015. | Journal: | Genes and Immunity | Abstract: | A preponderance of females develop autoimmune disease, including juvenile idiopathic arthritis (JIA), yet the reason for this bias remains elusive. Evidence suggests that genetic risk of disease may be influenced by sex. PTPN22 rs2476601 is associated with JIA and numerous other autoimmune diseases, and has been reported to show female-specific association with type 1 diabetes. We performed main effect and sex-stratified association analyses to determine whether a sex-specific association exists in JIA. As expected, rs2476601 was associated with JIA in our discovery (413 cases and 690 controls) and replication (1008 cases and 9284 controls) samples. Discovery sample sex-stratified analyses demonstrated an association specifically in females (odds ratio (OR)=2.35, 95% confidence interval (CI)=1.52-3.63, P=0.00011) but not males (OR=0.91, 95% CI=0.52-1.60, P=0.75). This was similarly observed in the replication sample. There was evidence for genotype-by-sex interaction (P interaction =0.009). The association between rs2476601 and JIA appears restricted to females, partly accounting for the predominance of females with this disease.Copyright © 2015 Macmillan Publishers Limited All rights reserved. | DOI: | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1038/gene.2015.32 | PubMed URL: | 26291515 [http://www.ncbi.nlm.nih.gov/pubmed/?term=26291515] | ISSN: | 1466-4879 | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/41011 | Type: | Article | Type of Clinical Study or Trial: | Observational study (cohort, case-control, cross sectional or survey) |
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