Association analysis of <scp>PTPN22</scp>, <scp>CTLA4</scp> and <scp>IFIH1</scp> genes with type 1 diabetes in <scp>C</scp>olombian families在哥伦比亚家族中进行的PTPN22、CTLA4以及IFIH1基因与1型糖尿病的相关性分析

Rodríguez, Alejandra; Alfaro, Juan Manuel Esquivel; Balthazar, Vital; Pineda-Trujillo, Nicolás

doi:10.1111/1753-0407.12192

Cited by 21 publications

(22 citation statements)

References 53 publications

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“…Furthermore, in a recent study the same authors confirmed that the rs2476601 PTPN22 polymorphism was associated with T1D susceptibility in Europeans (Lee and Song, 2012). For a Colombian population, as well as in our study, an association was found for the PTPN22 gene and development of T1D (Rodríguez et al, 2014). Tang et al (2012) indicated that T1D is associated with the PTPN22 +1858G/A gene polymorphism, and that association with this promoter polymorphism was likely dependent on ethnicity.…”

Section: Discussionsupporting

confidence: 87%

“…However, in a case-control study performed in a cohort of Turkish children with T1D, no association was observed between this polymorphism and increased susceptibility to T1D or with the clinical and laboratory characteristics of the patients with T1D (P > 0.05) (Çelmeli et al, 2013). Furthermore, in another study by Rodríguez et al (2014), no significant association was found for CTLA4 in the development of T1D in a Colombian population. These results are in agreement with those found in our population.…”

Section: Discussionmentioning

confidence: 84%

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Association of TNF-α, CTLA4, and PTPN22 polymorphisms with type 1 diabetes and other autoimmune diseases in Brazil

Tavares¹,

Santos²,

Moura³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Type 1 diabetes mellitus (T1D) is a complex disorder characterized by an autoimmune response against human pancreatic beta-cells. Patients with T1D can also develop a response toward one or more other factors, such as in autoimmune thyroiditis (AITD) and celiac disease (CD). In the presence of T1D + AITD, the patient is diagnosed with autoimmune polyglandular syndrome type III (APSIII); patients with APSIII may also present with CD. These diseases have a strong genetic component and share many susceptibility genes, suggesting potentially overlapping pathogenic pathways. Polymorphisms in the TNF-α (rs1800629), CTLA-4 (rs231775), and PTPN22 (rs2476601) genes have been previous associated with T1D; however, there is no consensus regarding their role in T1D and scarce literature focusing on AIDT and/or CD. Thus, we analyzed these genetic variants in 205 Northeast Brazilian patients with T1D and with/without AITD and/or CD, and in 308 healthy controls. The PTPN22 gene variants were associated with T1D susceptibility and APSIII [odds ratio (OR) = 2.57 and 2.77, respectively]. CTLA4 rs231775 and TNF-α rs1800629 were not associated with T1D onset in the Brazilian population. However, when comparing APSIII individuals in the T1D only group, we observed an association of the TNF-α SNP in the allelic (P = 0.0442; OR = 0.44) and dominant models (P = 0.0387; OR = 0.40). This study reinforces the importance of CTLA-4 and other variants in unraveling the pathogenic mechanisms of T1D in different populations and in understanding their relationships with the development of other T1D-related autoimmune diseases.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 84%

Association of TNF-α, CTLA4, and PTPN22 polymorphisms with type 1 diabetes and other autoimmune diseases in Brazil

Tavares¹,

Santos²,

Moura³

et al. 2015

Genet. Mol. Res.

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“…Similar outcomes of PTPN22 haplotype analysis were found in RA [42], AS [21] and T1D [43], despite the different composition of PTPN22 haplotypes in these studies. Similar outcomes of PTPN22 haplotype analysis were found in RA [42], AS [21] and T1D [43], despite the different composition of PTPN22 haplotypes in these studies.…”

Section: Discussionsupporting

confidence: 81%

“…We could not detect an association between any of the individual tag SNPs of PTPN22 and scleritis, but haplotype analysis showed a significant risk association of the PTPN22 TTATACGCG haplotype with scleritis. Similar outcomes of PTPN22 haplotype analysis were found in RA [42], AS [21] and T1D [43], despite the different composition of PTPN22 haplotypes in these studies. Only few studies have addressed the biological function of different PTPN22 haplotypes, and reported that a haplotype of PTPN22 (rs2488457, rs2476601) was associated with RA as well as with the level of anti-CCP antibodies in a western Mexican population [42].…”

Section: Discussionsupporting

confidence: 81%

Identification of susceptibility SNPs in CTLA-4 and PTPN22 for scleritis in Han Chinese

et al. 2019

Clinical and Experimental Immunology

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The aim of this study was to determine the association between 13 single nucleotide polymorphisms (SNPs) in the cytotoxic T lymphocyte-associated antigen-4 (CTLA4) and protein tyrosine phosphatase non-receptor type 22 (PTPN22) genes with scleritis in a Chinese Han population. We recruited 432 scleritis patients and 710 healthy controls. Four tag SNPs of CTLA4 and nine tag SNPs of PTPN22 were selected using Haploview. Genotyping was performed with the Sequenom MassArray® iPLEX GOLD Assay. Genotype and allele frequency differences were analyzed by χ 2 test and Bonferroni correction. Haplotype analysis was performed to further evaluate the association of these two genes with scleritis. In this study, CTLA4/rs3087243 G allele frequency and GG genotype frequency were significantly increased in scleritis patients compared to healthy controls [corrected P-value (Pc) = 0·02, odds ratio (OR) = 1·475, 95% confidence interval (CI) = 1·175-1·851; Pc = 0·04, OR = 1·546, 95% CI = 1·190-2·008, respectively]. None of the tested SNPs in the PTPN22 gene showed an association with scleritis. Haplotype analysis revealed a lower frequency of a CTLA4 TCAA haplotype (order of SNPs: rs733618, rs5742909, rs231775, rs3087243) (Pc = 4·26 × 10 -3 , OR = 0·618, 95% CI = 0·540-0·858) and a higher frequency of a PTPN22 TTATACGCG haplotype (order of SNPs: rs3789604, rs150426536, rs1746853, rs1217403, rs1217406, rs3789609, rs1217414, rs3789612, rs2488457) (Pc = 2·83 × 10 -4 , OR = 1·457, 95% CI = 1·210-1·754) in scleritis patients when compared to healthy controls. In conclusion, our findings indicate that CTLA4 and PTPN22 might confer genetic susceptibility to scleritis in a Chinese Han population.

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“…Interestingly, variation of PTPN22 has been recognized as one of the strongest genetic risk factors for autoimmune diseases outside the major histocompatibility complex (MHC) (Burn, Svensson, Sanchez‐Blanco, Saini, & Cope, ). Associations have been reported for rheumatoid arthritis, juvenile idiopathic arthritis, type 1 diabetes mellitus, systemic lupus erythematosus, Graves’ disease, ulcerative colitis and myasthenia gravis (Bottini et al., ; Diaz‐Gallo et al., ; Ferjeni et al., ; López‐Cano et al., ; Orozco et al., ; Orrú et al., ; Remuzgo‐Martínez et al., ; Rodríguez, Alfaro, Balthazar, & Pineda Trujillo, ; Rodriguez‐Rodriguez et al., ; Vandiedonck et al., ; Velaga et al., ), among others. However, besides pemphigus, susceptibility to multiple sclerosis, Addison's disease, inflammatory bowel disease, Crohn's's disease and coeliac disease apparently is not influenced by the PTPN22 polymorphisms (Begovich et al., ; Diaz‐Gallo et al., ; Lee et al., ; Matesanz et al., ; Smyth et al., ).…”

Section: Discussionmentioning

confidence: 99%

Region 1p13.2 including the RSBN1, PTPN22, AP4B1 and long non‐coding RNA genes does not bear risk factors for endemic pemphigus foliaceus (fogo selvagem)

Lobo‐Alves

Oliveira

Petzl‐Erler

2019

Int J Immunogenetics

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Pemphigus foliaceus (PF) is an autoimmune skin disease characterized by autoantibodies directed mainly against desmoglein‐1. The purpose of this study was to determine whether differential susceptibility to endemic PF in Brazil (fogo selvagem) is associated with polymorphisms at the cytogenetic location 1p13.2. Four single nucleotide polymorphisms that together tag 28 SNPs on a segment of approximately 312,000 bp encompassing the protein‐coding genes MAGI3, PHTF1, RSBN1, PTPN22, BCL2L15, AP4B1, DCLRE1B, the pseudogenes MTND5P20, RPS2P14 (AL133517.1) and the long non‐coding RNA genes AL137856.1, and AP4B1‐AS1 were used as markers for association analysis in a case–control study. Allele, genotype and haplotype frequencies of rs33996649, rs2476601, rs3789604 and rs3195954 were compared between patient and control samples. No significant association was found. Lack of association with rs2476601 of the PTPN22 gene agrees with previous results for pemphigus vulgaris and the Tunisian form of endemic pemphigus foliaceus. The other three SNPs had never been analysed before in any form of pemphigus. We conclude that variants in structural and regulatory sites of region 1p13.2 are not susceptibility factors for fogo selvagem. We suggest careful investigation of this genomic region in diseases that had been previously associated with PTPN22, since there are several other genes relevant for immune‐mediated diseases located in 1p13.2.

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Association analysis of PTPN22, CTLA4 and IFIH1 genes with type 1 diabetes in Colombian families在哥伦比亚家族中进行的PTPN22、CTLA4以及IFIH1基因与1型糖尿病的相关性分析

Abstract: The results show that IFIH1 and PTPN22 are associated with T1D in Colombian families.

Cited by 21 publications

References 53 publications

Association of TNF-α, CTLA4, and PTPN22 polymorphisms with type 1 diabetes and other autoimmune diseases in Brazil

Association of TNF-α, CTLA4, and PTPN22 polymorphisms with type 1 diabetes and other autoimmune diseases in Brazil

Identification of susceptibility SNPs in CTLA-4 and PTPN22 for scleritis in Han Chinese

Region 1p13.2 including the RSBN1, PTPN22, AP4B1 and long non‐coding RNA genes does not bear risk factors for endemic pemphigus foliaceus (fogo selvagem)

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