Investigation of juvenile idiopathic arthritis susceptibility loci: Results from a Greek population

Dimopoulou, Despoina; Zervou, Maria I.; Trachana, Maria; Myrthianou, E.; Pratsidou-Gertsi, Polyxeni; Kardassis, Dimitris; Garyfallos, Alexandros; Goulielmos, George N.

doi:10.1016/j.humimm.2013.06.018

Cited by 19 publications

(17 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In a brief communication Viken et al, also reported an increased odds of the same SNP of PTPN22 in patients with JIA compared to controls (OR = 1.58, p = 0.001) [38]. These findings have been replicated in a JIA GWAS study and in candidate gene studies limited to distinct ethnic groups [39,40]. A recent meta-analysis of PTPN22 associations in JIA confirmed the strong association between this variant and JIA (OR 1.44, p < 0.0001) [35].…”

Section: Genetics Of Oligoarticular Jia/polyarticular Rf-negative Jiamentioning

confidence: 89%

Immunogenetics of juvenile idiopathic arthritis: A comprehensive review

Hersh

Prahalad

2015

Journal of Autoimmunity

115

View full text Add to dashboard Cite

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.

show abstract

Section: Genetics Of Oligoarticular Jia/polyarticular Rf-negative Jiamentioning

confidence: 89%

Immunogenetics of juvenile idiopathic arthritis: A comprehensive review

Hersh

Prahalad

2015

Journal of Autoimmunity

115

View full text Add to dashboard Cite

show abstract

“…13,14,19,36 In addition, minor alleles of two other CD247 SNPs in LD with rs2056626 were associated with reduced susceptibility to rheumatoid arthritis, celiac disease, and juvenile idiopathic arthritis. [37][38][39] Although causal effects of these SNPs on CD247 expression and function have not been completely characterized, variation in this gene correlated with altered T-cell activation and autoimmune diabetes in mice. 40 In our study, the rs2056626 G minor allele in both recipients and donors showed allelic and dominant associations with increased risk of sclerosis in patients with chronic GVHD.…”

Section: Discussionmentioning

confidence: 99%

Genetic risk factors for sclerotic graft-versus-host disease

Inamoto

Martin

Flowers

et al. 2016

Blood

View full text Add to dashboard Cite

show abstract

“…Protein tyrosine phosphatase non-receptor type 22 (PTPN22), a powerful negative regulator of T-cell activation, has been associated with several autoimmune diseases, such as systemic lupus erythematosus (Namjou et al, 2013), T1DM (Giza et al, 2013), juvenile idiopathic arthritis (Dimopoulou et al, 2013), autoimmune thyroid disease (Alkhateeb et al, 2013), and rheumatoid arthritis (Taylor et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Association of PTPN22 gene polymorphism with type 1 diabetes mellitus in Chinese children and adolescents

et al. 2015

View full text Add to dashboard Cite

ABSTRACT. Previous studies have indicated that the protein tyrosine phosphatase nonreceptor type 22 gene (PTPN22) is associated with type 1 diabetes (T1DM) in the Caucasian population. In the present study, we investigated the relationship between PTPN22 genetic polymorphisms and T1DM in Chinese children. A total of 202 children and adolescents with T1DM and 240 healthy control subjects of Chinese Han origin were included in our analysis. Polymerase chain reaction-restriction fragment length polymorphism was used to determine the presence of the C1858T polymorphism in the PTPN22 gene. We found that the TT +TC genotype and the T allele of C1858T were more frequent in T1DM patients (19.40 and 10.0%, respectively) than in healthy subjects (7.51 and 4.0%, respectively), and the difference was significant (both P < 0.001). After adjusting for confounding variables such as gender, age, and family history of T1DM, the difference remained significant (P = 0.007, odds ratio = 2.88, 95% confidence interval 1.76-4.32). Our results indicate that genetic polymorphisms in the PTPN22 gene may increase the risk of T1DM in Chinese children and adolescents.

show abstract

Investigation of juvenile idiopathic arthritis susceptibility loci: Results from a Greek population

Cited by 19 publications

References 38 publications

Immunogenetics of juvenile idiopathic arthritis: A comprehensive review

Immunogenetics of juvenile idiopathic arthritis: A comprehensive review

Genetic risk factors for sclerotic graft-versus-host disease

Association of PTPN22 gene polymorphism with type 1 diabetes mellitus in Chinese children and adolescents

Contact Info

Product

Resources

About