Association analysis of the PTPN22 gene in childhood-onset systemic lupus erythematosus in Mexican population

Baca, Vicente; Velázquez‐Cruz, Rafael; Salas-Martínez, Guadalupe; Espinosa-Rosales, Francisco; Saldaña-Álvarez, Yolanda; Orozco, Lorena

doi:10.1038/sj.gene.6364350

Cited by 36 publications

(29 citation statements)

References 20 publications

(33 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although several new insights have been obtained in the past decade using linkage and association studies of multicases SLE families as well as case -control studies, most of these studies have involved mainly patients with adult-onset SLE. Recently, we have replicated the observed association of the PTPN22 gene with adult-onset SLE in childhood-onset SLE in Mexican population, 18 and to our knowledge there are only two other genetic studies with a small sample size on pediatric SLE. 19,20 One was performed in 46 Chinese children showing association between SLE and a SNP in RANTES gene.…”

Section: Discussionsupporting

confidence: 60%

Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus

et al. 2007

View full text Add to dashboard Cite

A regulatory single nucleotide polymorphism (SNP) PD1.3G/A located on programmed cell death 1 (PDCD1) gene, was shown to be involved in susceptibility to systemic lupus erythematosus (SLE) in Swedish, European American, and Mexican cases. However, association to childhood-onset SLE has not been analyzed. The aim of this study was to investigate the association of PDCD1 polymorphisms and haplotypes with susceptibility to childhood-onset SLE in Mexican population. Three PDCD1 SNPs, PD1.3G/A, PD1.5C/T, PD1.6G/A, were analyzed in 250 childhood-onset SLE Mexican patients and 355 healthy controls in a case-control association study. Polymorphisms were genotyped by TaqMan technology. Stratification analysis was performed on the SLE cohort to investigate the SNP association with renal disorder. In addition, haplotypes were constructed with these three SNPs. The PD1.3A allele was significantly associated to childhood-onset SLE (P ¼ 0.0019, odds ratio (OR) 2.73, 95% confidence interval (95% CI) 1.35-5.56). The other PDCD1 SNPs did not show association. A total of 155 patients (62%) had nephritis, and no association was observed with PDCD1 SNPs. The ACG haplotype (PD1.3A, PD1.5C, PD1.6G) included almost all PD1.3A alleles, and it was more frequent in SLE patients (5.5%) than in controls (2.1%) (P ¼ 0.003; OR 2.73, 95% CI 1.37-5.46). The haplotype structure in Mexican controls was significantly different from those reported in Spanish and Swedish. Our results support association of the PD1.3A SNP to susceptibility of childhood-onset SLE in Mexican population and does not show association to lupus nephritis in this age group.

show abstract

Section: Discussionsupporting

confidence: 60%

Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus

et al. 2007

View full text Add to dashboard Cite

show abstract

“…49,[56][57][58][59][60][61][62][63][64][65][66][67] Americans of non-European descent showed a very low T allele frequency, as low as 1.1% in Mexico. 68 North Africa had a similar T allele frequency to Turkey and the Middle East, which ranged from 2 to 3.5%; [69][70][71][72][73][74][75] however, PTPN22 is not polymorphic in the black African population. 76 PTPN22 is also non-polymorphic or almost non-polymorphic in some Asian populations, including Japanese, Korean, Indian and some Chinese populations.…”

mentioning

confidence: 85%

Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localization of the affected tissue

et al. 2012

View full text Add to dashboard Cite

Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a strong susceptibility gene shared by many autoimmune diseases. The aim of this study was to explore the mechanisms underlying this relationship. We performed a comprehensive analysis of the association between PTPN22 polymorphism C1858T and autoimmune diseases. The results showed a remarkable pattern; PTPN22 C1858T was strongly associated with type I diabetes, rheumatoid arthritis, immune thrombocytopenia, generalized vitiligo with concomitant autoimmune diseases, idiopathic inflammatory myopathies, Graves' disease, juvenile idiopathic arthritis, myasthenia gravis, systemic lupus erythematosus, anti-neutrophil cytoplasmic antibody-associated vasculitis and Addison's disease. By contrast, PTPN22 C1858T showed a negligible association with systemic sclerosis, celiac disease, multiple sclerosis, psoriasis, ankylosing spondylitis, pemphigus vulgaris, ulcerative colitis, primary sclerosing cholangitis, primary biliary cirrhosis, Crohn's disease and acute anterior uveitis. Further analysis revealed a clear distinction between the two groups of diseases with regard to their targeted tissues: most autoimmune diseases showing an insignificant association with PTPN22 C1858T manifest in skin, the gastrointestinal tract or in immune privileged sites. These results showed that the association of PTPN22 polymorphism with autoimmune diseases depends on the localization of the affected tissue, suggesting a role of targeted organ variation in the disease manifestations.

show abstract

“…The protein tyrosine phosphatase 22 (PTPN22) gene encodes lymphoid tyrosine phosphatase that-interacting with C-terminal Src tyrosine kinasedownregulates the T-cell receptor that mediates signaling. 127 The association of the rs2476601 ( þ 1858C/T; R620W) SNP of PTPN22 with SLE has been shown in Caucasians 128,129 and Hispanics, 128,130 but not in African Americans 128 or Norwegians. 131 We found no genetic study of PTPN22 in Asians.…”

mentioning

confidence: 99%

Genetic studies of systemic lupus erythematosus in Asia: where are we now?

Kim

et al. 2009

Genes Immun

View full text Add to dashboard Cite

There have been many genetic studies of systemic lupus erythematosus (SLE) in Asia, but the status of SLE in Asia remains unclear. Genes that have been associated with SLE in Caucasians have shown both consistent and inconsistent results in Asians. This prompted us to review studies of SLE-associated genes and compare the degree of consistency according to ethnicity in Asia. We searched PubMed and the national databases in Korea and Japan for SLE genetic studies. A total of 755 articles were found and after applying various exclusion criteria, 442 studies including 17 linkage studies, 2 genome-wide association studies and 423 candidate-gene analyses were reviewed. Nine linkage loci were confirmed to be associated with SLE susceptibility in non-Asians, but the risk locus (16q12) has been identified in only one Asian study. A total of 156 candidate genes were analyzed, of which 92 were studied in Asians. Although there were allelic (HLA-DRB1 and IRF5) or genetic heterogeneity (FCGR gene family), HLA-DRB1, the FCGR gene family, IRF5, STAT4 and MECP2 showed consistent associations with SLE susceptibility across ethnicities. In conclusion, genetic associations often vary with ethnicity, requiring validation in different ethnic groups, and hence future SLE genetic studies will require strong worldwide collaborations.

show abstract

Association analysis of the PTPN22 gene in childhood-onset systemic lupus erythematosus in Mexican population

Cited by 36 publications

References 20 publications

Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus

Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus

Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localization of the affected tissue

Genetic studies of systemic lupus erythematosus in Asia: where are we now?

Contact Info

Product

Resources

About