PMID- 26305060
OWN - NLM
STAT- MEDLINE
DCOM- 20160819
LR  - 20181113
IS  - 1095-9157 (Electronic)
IS  - 0896-8411 (Print)
IS  - 0896-8411 (Linking)
VI  - 64
DP  - 2015 Nov
TI  - Immunogenetics of juvenile idiopathic arthritis: A comprehensive review.
PG  - 113-24
LID - S0896-8411(15)30020-2 [pii]
LID - 10.1016/j.jaut.2015.08.002 [doi]
AB  - Juvenile idiopathic arthritis (JIA) is the most common chronic inflammatory 
      arthropathy of childhood. Juvenile idiopathic arthritis is believed to be a 
      complex genetic trait influenced by both genetic and environmental factors. Twin 
      and family studies suggest a substantial role for genetic factors in the 
      predisposition to JIA. Describing the genetics is complicated by the 
      heterogeneity of JIA; the International League of Associations for Rheumatology 
      (ILAR) has defined seven categories of JIA based on distinct clinical and 
      laboratory features. Utilizing a variety of techniques including candidate gene 
      studies, the use of genotyping arrays such as Immunochip, and genome wide 
      association studies (GWAS), both human leukocyte antigen (HLA) and non-HLA 
      susceptibility loci associated with JIA have been described. Several of these 
      polymorphisms (e.g. HLA class II, PTPN22, STAT4) are shared with other common 
      autoimmune conditions; other novel polymorphisms that have been identified may be 
      unique to JIA. Associations with oligoarticular and RF-negative polyarticular JIA 
      are the best characterized. A strong association between HLA DRB1:11:03/04 and 
      DRB1:08:01, and a protective effect of DRB1:15:01 have been described. HLA 
      DPB1:02:01 has also been associated with oligoarticular and RF-negative 
      polyarticular JIA. Besides PTPN22, STAT4 and PTPN2 variants, IL2, IL2RA, IL2RB, 
      as well as IL6 and IL6R loci also harbor variants associated with oligoarticular 
      and RF-negative polyarticular JIA. RF-positive polyarticular JIA is associated 
      with many of the shared epitope encoding HLA DRB1 alleles, as well as PTPN22, 
      STAT4 and TNFAIP3 variants. ERA is associated with HLA B27. Most other 
      associations between JIA categories and HLA or non-HLA variants need 
      confirmation. The formation of International Consortia to ascertain and analyze 
      large cohorts of JIA categories, validation of reported findings in independent 
      cohorts, and functional studies will enhance our understanding of the genetic 
      underpinnings of JIA.
CI  - Copyright (c) 2015 Elsevier Ltd. All rights reserved.
FAU - Hersh, Aimee O
AU  - Hersh AO
AD  - University of Utah School of Medicine, Salt Lake City, UT, USA.
FAU - Prahalad, Sampath
AU  - Prahalad S
AD  - Departments of Pediatrics and Human Genetics, Emory University School of 
      Medicine, Atlanta, GA, USA; Children's Healthcare of Atlanta, Atlanta, GA, USA. 
      Electronic address: sprahal@emory.edu.
LA  - eng
GR  - K23 AR066064/AR/NIAMS NIH HHS/United States
GR  - K23-AR066064/AR/NIAMS NIH HHS/United States
GR  - R01-AR060893/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20150821
PL  - England
TA  - J Autoimmun
JT  - Journal of autoimmunity
JID - 8812164
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Alleles
MH  - Animals
MH  - Arthritis, Juvenile/diagnosis/*genetics/*immunology
MH  - Genetic Loci
MH  - *Genetic Predisposition to Disease
MH  - Genome-Wide Association Study
MH  - HLA Antigens/genetics/immunology
MH  - Humans
MH  - *Immunogenetics
MH  - Phenotype
PMC - PMC4838197
MID - NIHMS777528
OTO - NOTNLM
OT  - Association
OT  - Candidate gene
OT  - Genetics
OT  - Genome-wide association studies
OT  - Immunochip
OT  - Juvenile idiopathic arthritis
EDAT- 2015/08/26 06:00
MHDA- 2016/08/20 06:00
PMCR- 2016/04/20
CRDT- 2015/08/26 06:00
PHST- 2015/08/04 00:00 [received]
PHST- 2015/08/05 00:00 [accepted]
PHST- 2015/08/26 06:00 [entrez]
PHST- 2015/08/26 06:00 [pubmed]
PHST- 2016/08/20 06:00 [medline]
PHST- 2016/04/20 00:00 [pmc-release]
AID - S0896-8411(15)30020-2 [pii]
AID - 10.1016/j.jaut.2015.08.002 [doi]
PST - ppublish
SO  - J Autoimmun. 2015 Nov;64:113-24. doi: 10.1016/j.jaut.2015.08.002. Epub 2015 Aug 
      21.