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The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females.

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  • معلومة اضافية
    • Publisher Information:
      Blackwell Publishing Netherlands 2017-03-21
    • نبذة مختصرة :
      Aim: A preponderance of females develop autoimmune disease, including juvenile idiopathic arthritis (JIA), yet the reason for this female bias remains elusive. Evidence suggests that genetic risk of disease may be influenced by sex. The JIA genetic risk variant, PTPN22 rs2476601, has been reported to show female-specific association in type 1 diabetes. We sought to determine whether rs2476601 exhibits a female-specific association in JIA. Method(s): The discovery sample was drawn from the Australian CLARITY JIA biobank. Rs2476601 was genotyped in 413 cases (67% female, mean age at recruitment 9.1 years) and 690 healthy controls (42% female, mean age at recruitment 7.1 years). We used logistic regression to assess the association of rs2476601 with JIA in the total sample (males and females). We then explored the role of sex in this association: we adjusted the regression analysis for sex, stratified by sex, and performed a genotype-bysex interaction analysis. We sought to replicate the sex-specific associations in an independent JIA case-control sample collected from the USA and Norway and held at the Children's Hospital of Philadelphia (1008 JIA cases and 9287 controls). Analyses were performed using Stata or PLINK. Result(s): PTPN22 rs2476601 was associated with JIA in both datasets (Discovery OR = 1.71,95% CI 1.26-2.33,p = 0.00066; Replication OR = 1.30, 95% CI 1.09-1.55, p = 0.0068). The association remained when adjusted for sex (Discovery OR = 1.63, 95% CI 1.18-2.24, p = 0.0028; Replication OR = 1.30, 95% CI 1.08-1.56, p = 0.0051). Discovery sample sex stratified analyses demonstrated association in females (OR = 2.35, 95% 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 also observed in the replication sample (Female OR = 1.38, 95% CI 1.09-1.73, p = 0.0068; MaleOR = 1.19,95% CI 0.88-1.63, p = 0.26). There was evidence for genotype-by-sex interaction (p interaction = 0.0087). Conclusion(s): We have demonstrated that the
    • الموضوع:
      human; biobank; child; controlled study; DNA polymorphism; female; genetic risk; genotype; hospital based case control study; human tissue; insulin dependent diabetes mellitus; juvenile rheumatoid arthritis; logistic regression analysis; major clinical study; male; Norway; participant observation; Pennsylvania; population based case control study; school child; endogenous compound; non receptor protein tyrosine phosphatase 22; Conference Abstract
    • Availability:
      Open access content. Open access content
      Copyright 2017 Elsevier B.V., All rights reserved.
    • Other Numbers:
      AUSHL oai:repository.monashhealth.org:1/41169
      Internal Medicine Journal. Conference: 56th Annual Scientific Meeting of the Australian Rheumatology Association in Conjunction with the Rheumatology Health Professionals Association. Adelaide, SA Australia. 45 (Supplement 2) (pp 4), 2015. Date of Publication: May 2015.
      1445-5994
      https://repository.monashhealth.org/monashhealthjspui/handle/1/41169
      614879485
      (Chiaroni-Clarke, Chavez, Saffery, Ponsonby, Ellis) Murdoch Childrens Research Institute, University of Melbourne, Parkville, Australia (Li, Hakonarson) Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, United States (Munro, Akikusa, Allen) Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia (Scurrah) University of Melbourne, Parkville, Australia (Pezic) Murdoch Childrens Research Institute, Australia (Piper) Monash Children's Hospital, Clayton, Australia (Becker) Children's Mercy Hospital, Kansas City, United States (Thompson) Cincinnati Children's Hospital Medical Centre, Cincinnati, United States (Lie) Oslo University Hospital, University of Oslo, Oslo, Norway (Flato, Forre) Oslo University Hospital, Norway (Punaro, Wise) Texas Scottish Rite Hospital for Children, Dallas, United States (Finkel) Nemours Children's Hospital, Orlando, United States
      (Chiaroni-Clarke, Chavez, Saffery, Ponsonby, Ellis) Murdoch Childrens Research Institute, University of Melbourne, Parkville, Australia
      (Li, Hakonarson) Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, United States
      (Munro, Akikusa, Allen) Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia
      (Scurrah) University of Melbourne, Parkville, Australia
      (Pezic) Murdoch Childrens Research Institute, Australia
      (Becker) Children's Mercy Hospital, Kansas City, United States
      (Thompson) Cincinnati Children's Hospital Medical Centre, Cincinnati, United States
      (Lie) Oslo University Hospital, University of Oslo, Oslo, Norway
      (Flato, Forre) Oslo University Hospital, Norway
      (Punaro, Wise) Texas Scottish Rite Hospital for Children, Dallas, United States
      (Finkel) Nemours Children's Hospital, Orlando, United States
      (Piper) Monash Children's Hospital, Clayton, Australia
      1305130860
    • Contributing Source:
      MONASH HEALTH LIBRS
      From OAIster®, provided by the OCLC Cooperative.
    • الرقم المعرف:
      edsoai.on1305130860
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