The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females.
作者： RC Chiaroni-Clarke , YR Li , JE Munro , RA Chavez , KJ Scurrah
DOI: 10.1038/GENE.2015.32
关键词:
摘要: 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 disease may be influenced by sex. PTPN22 rs2476601 is associated with JIA and numerous other diseases, has been reported to show female-specific association type 1 diabetes. We performed main effect sex-stratified analyses determine whether a sex-specific exists in JIA. As expected, was our discovery (413 cases 690 controls) replication (1008 9284 samples. Discovery sample demonstrated an specifically (odds ratio (OR)=2.35, 95% confidence interval (CI)=1.52-3.63, P=0.00011) but not males (OR=0.91, CI=0.52-1.60, P=0.75). This similarly observed sample. There evidence genotype-by-sex interaction (Pinteraction=0.009). The between appears restricted females, partly accounting predominance disease.
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Kenneth J. Rothman, Epidemiology: An Introduction ,(2002)
Anne Hinks, Joanna Cobb, Miranda C Marion, Sampath Prahalad, Marc Sudman, John Bowes, Paul Martin, Mary E Comeau, Satria Sajuthi, Robert Andrews, Milton Brown, Wei-Min Chen, Patrick Concannon, Panos Deloukas, Sarah Edkins, Stephen Eyre, Patrick M Gaffney, Stephen L Guthery, Joel M Guthridge, Sarah E Hunt, Judith A James, Mehdi Keddache, Kathy L Moser, Peter A Nigrovic, Suna Onengut-Gumuscu, Mitchell L Onslow, Carlos D Rosé, Stephen S Rich, Kathryn JA Steel, Edward K Wakeland, Carol A Wallace, Lucy R Wedderburn, Patricia Woo, Boston Children's JIA Registry, British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group, Childhood Arthritis Prospective Study (CAPS), Childhood Arthritis Response to Medication Study (CHARMS), German Society for Pediatric Rheumatology (GKJR), JIA Gene Expression Study, NIAMS JIA Genetic Registry, TREAT Study, United Kingdom Juvenile Idiopathic Arthritis Genetics Consortium (UKJIAGC), John F Bohnsack, Johannes Peter Haas, David N Glass, Carl D Langefeld, Wendy Thomson, Susan D Thompson, None, Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis Nature Genetics. ,vol. 45, pp. 664- 669 ,(2013) , 10.1038/NG.2614
R. Hermann, K. Lipponen, M. Kiviniemi, T. Kakko, R. Veijola, O. Simell, M. Knip, J. Ilonen, Lymphoid tyrosine phosphatase (LYP/PTPN22) Arg620Trp variant regulates insulin autoimmunity and progression to type 1 diabetes Diabetologia. ,vol. 49, pp. 1198- 1208 ,(2006) , 10.1007/S00125-006-0225-4
Stephanie M. Stanford, Nunzio Bottini, PTPN22: the archetypal non-HLA autoimmunity gene. Nature Reviews Rheumatology. ,vol. 10, pp. 602- 611 ,(2014) , 10.1038/NRRHEUM.2014.109
S.T. Ngo, F.J. Steyn, P.A. McCombe, Gender differences in autoimmune disease. Frontiers in Neuroendocrinology. ,vol. 35, pp. 347- 369 ,(2014) , 10.1016/J.YFRNE.2014.04.004
Carole Ober, Dagan A. Loisel, Yoav Gilad, Sex-specific genetic architecture of human disease Nature Reviews Genetics. ,vol. 9, pp. 911- 922 ,(2008) , 10.1038/NRG2415
Torkel Vang, Mauro Congia, Maria Doloretta Macis, Lucia Musumeci, Valeria Orrú, Patrizia Zavattari, Konstantina Nika, Lutz Tautz, Kjetil Taskén, Francesco Cucca, Tomas Mustelin, Nunzio Bottini, Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant Nature Genetics. ,vol. 37, pp. 1317- 1319 ,(2005) , 10.1038/NG1673
C. Nielsen, D. Hansen, S. Husby, S. T. Lillevang, Sex-specific association of the human PTPN22 1858T-allele with type 1 diabetes. International Journal of Immunogenetics. ,vol. 34, pp. 469- 473 ,(2007) , 10.1111/J.1744-313X.2007.00720.X
Justine A. Ellis, Katrina J. Scurrah, Yun R. Li, Anne-Louise Ponsonby, Raul A. Chavez, Angela Pezic, Terence Dwyer, Jonathan D. Akikusa, Roger C. Allen, Mara L. Becker, Susan D. Thompson, Benedicte A. Lie, Berit Flatø, Øystein Førre, Marilynn Punaro, Carol Wise, Terri H. Finkel, Hakon Hakonarson, Jane E. Munro, Epistasis amongst PTPN2 and genes of the vitamin D pathway contributes to risk of juvenile idiopathic arthritis The Journal of Steroid Biochemistry and Molecular Biology. ,vol. 145, pp. 113- 120 ,(2015) , 10.1016/J.JSBMB.2014.10.012
C Nielsen, T Barington, S Husby, S T Lillevang, Expression of human PTPN22 alleles. Genes and Immunity. ,vol. 8, pp. 131- 137 ,(2007) , 10.1038/SJ.GENE.6364369