The +1858C/T PTPN22 gene polymorphism confers genetic susceptibility to rheumatoid arthritis in Mexican population from the Western Mexico

Torres‐Carrillo, Nora Magdalena; Ruiz‐Noa, Yeniley; Martínez-Bonilla, Gloria; Leyva-Torres, S. D.; Palafox‐Sánchez, Claudia Azucena; Navarro-Hernández, Rosa Elena; Rangel-Villalobos, Héctor; Muñoz‐Valle, José Francisco

doi:10.1016/j.imlet.2012.05.007

Cited by 34 publications

(28 citation statements)

References 41 publications

(69 reference statements)

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“…In the present investigation, we examined the possible association between PTPN22 rs2476601 polymorphisms and the risk of RA and CD in a sample of Iranian population. In agreement with our findings, numerous studies have revealed the existence of a positive association between PTPN22 R620W gene polymorphism and RA diseases in Mexican [2] , German [8] , Swedish [23] , Dutch [24] , Spanish [25] , British [25] and French [25] populations. In contrast, some others have failed to detect any correlation between PTPN22 1858 C/T polymorphism and RA risk [16,17,26] .…”

Section: Discussionsupporting

confidence: 93%

“…The findings of this study together with those of other studies [2,13,28] propose that the +1858C/T PTPN22 SNP predisposes individuals to autoimmune diseases because of enhanced suppression of T-cell receptor signaling during thymic development, which allows the survival of auto-reactive T-cells. This deficiency in immunological tolerance explains the significance of PTPN22 in the development of autoimmune diseases.…”

Section: Discussionsupporting

confidence: 76%

“…In line with our finding, Hashemi et al [27] have reported that +1858T allele is significantly more frequent in RA patients compared with controls (0.075 vs. 0.017, respectively). Furthermore, Torres-Carrillo et al [2] have found the minor allele figures in RA and the control group (0.06 and 0.02, respectively) [2] . The association between the minor PTPN22 allele and autoantibody-positive RA remains controversial.…”

Section: Discussionmentioning

confidence: 93%

“…utoimmune diseases are chronic conditions distinguished by the loss of immunological tolerance to self-antigens [1] and affect 5-7% of the population of the world [2] . Rheumatoid arthritis (RA) is characterized by synovial inflammation, hyperplasia, cartilage and bone destruction, autoantibody production (rheumatoid factor [RF]), anticyclic citrullinated peptide (CCP) and the decreased quality of life [3] .…”

Section: Introductionmentioning

confidence: 99%

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Association of PTPN22 rs2476601 Polymorphism with Rheumatoid Arthritis and Celiac Disease in Khuzestan Province, Southwestern Iran

Abbasi¹,

Nezhad²,

Pourmahdi-Broojeni³

et al. 2017

IBJ

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Background: Single-nucleotide polymorphism (SNP) rs2476601 within protein tyrosine phosphatase non-receptor type 22 gene (PTPN22) has been shown to be a risk factor for different autoimmune diseases. This study explored the association of 1858 C/T SNP with rheumatoid arthritis (RA) and celiac disease (CD) in a region covering southwest of Iran. Methods: Totally, 52 patients with CD, 120 patients with RA, and 120 healthy subjects were selected. The samples were genotyped for the rs2476601 in PTPN22 gene using the tetra-amplification refractory mutation system polymerase chain reaction. Results: The frequency of +1858T risk allele was significantly increased in both RA (P=0.021, OR=2.56, 95%CI=1.19-5.47) and CD (P=0.002, OR=3.87, 95%CI=1.68-8.95) patients, as compared to the control group. However, no association was found between the +1858C/T PTPN22 gene SNP and the anticyclic citrullinated peptide and rheumatoid factor positivity in RA patients. Conclusions: PTPN22 gene could play a crucial role in people's susceptibility to certain autoimmune diseases.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionsupporting

confidence: 76%

Section: Discussionmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Association of PTPN22 rs2476601 Polymorphism with Rheumatoid Arthritis and Celiac Disease in Khuzestan Province, Southwestern Iran

Abbasi¹,

Nezhad²,

Pourmahdi-Broojeni³

et al. 2017

IBJ

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“…We report in the present study association of PTPN22 1858C→T polymorphism with susceptibility to RA among Egyptian patients, which is consistent with previous studies done on different ethnic populations such as on Iranian population [20], Italian [21] and Mexican population [22].…”

Section: Discussionsupporting

confidence: 93%

Association of PTPN22 1858C→T polymorphism, HLA-DRB1 shared epitope and autoantibodies with rheumatoid arthritis

et al. 2016

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To assess impact of PTPN22 1858C→T polymorphism, HLA shared epitope and autoantibodies on susceptibility and severity of rheumatoid arthritis (RA). A total of 150 RA patients and 150 controls were included in the study. Anti-cyclic citrullinated peptide (anti-CCP) and rheumatoid factor isotypes (IgG, IgM and IgA) were assayed by ELISA. PTPN22 1858C→T polymorphism was performed by RFLP analysis and HLA-DRB1 genotyping by PCR-SSP analysis. Single-view, anteroposterior radiographs of the hands and feet were obtained on all RA patients. The results showed association of PTPN22 1858 T allele with RA (OR = 2.3, 95 % CI 1.5-3.5) and bone erosion (OR = 2.9, 95 % CI 1.1-7.6). The associations increased with the combination of positive autoantibodies, HLA-DRB1 SE with PTPN22 1858 T allele carriage. The highest association was with the combination with anti-CCP antibodies (OR = 47.3, 95 % CI 10.9-204.4 for RA and OR = 69.4, 95 % CI 15.8-305.5 for erosion p < 0.001). Combination of PTPN22 1858 T allele carriage with negative RF isotypes or with absence HLA-DRB1 SE showed no significant association with RA. The presence of PTPN22 1858C→T polymorphism with HLA SE and autoantibodies increases risk of RA development and erosive disease.

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PTPN22 1858C>T polymorphism is associated with increased CD154 expression and higher CD4+ T cells percentage in rheumatoid arthritis patients

Ruiz‐Noa

Hernández‐Bello

Llamas-Covarrubias

et al. 2018

Clinical Laboratory Analysis

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Background CD40 is a costimulatory molecule for B cells, and CD154 is a marker of CD4+ T cells activation. CD40‐CD154 interaction promotes pro‐inflammatory cytokines secretion and autoantibodies production. PTPN22 gene encodes LYP protein, an inhibitor of T‐ and B‐cell activation. PTPN22 1858C>T polymorphism confers rheumatoid arthritis (RA) susceptibility. Hence, we evaluate the relationship between 1858C>T polymorphism with CD40 and CD154 expression and IFN‐γ secretion in RA patients. Methods PTPN22 1858C>T polymorphism was genotyped in 315 RA patients and 315 control subjects (CS) using PCR‐RFLP method. Later, we selected only ten anti‐CCP‐positive RA patients, naïve to disease‐modifying antirheumatic drugs and ten CS, all with known 1858C>T PTPN22 genotype. The CD40 and CD154 membrane expressions were determined by flow cytometry in peripheral B and T cells, correspondingly. Results The B cells percentage and mCD40 expression were similar between RA and CS (P > 0.05) and we did not find an association between these variables and the 1858C>T polymorphism. The CD4+ T cells percentage was higher in RA patients than CS (P = 0.003), and in the RA group, the CD4+ T cells percentage and mCD154 expression were higher in the 1858 T allele carriers (P = 0.008 and P = 0.032, respectively). The IFN‐γ levels were lower in RA patients carrying the PTPN22 risk allele (P = 0.032). Conclusion The PTPN22 1858 T risk allele is associated with increased CD4+ T cells percentage and high mCD154 expression in RA patients, which could favor the pro‐inflammatory cytokine release and the establishment of the inflammatory response at the seropositive RA.

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The +1858C/T PTPN22 gene polymorphism confers genetic susceptibility to rheumatoid arthritis in Mexican population from the Western Mexico

Cited by 34 publications

References 41 publications

Association of PTPN22 rs2476601 Polymorphism with Rheumatoid Arthritis and Celiac Disease in Khuzestan Province, Southwestern Iran

Association of PTPN22 rs2476601 Polymorphism with Rheumatoid Arthritis and Celiac Disease in Khuzestan Province, Southwestern Iran

Association of PTPN22 1858C→T polymorphism, HLA-DRB1 shared epitope and autoantibodies with rheumatoid arthritis

PTPN22 1858C>T polymorphism is associated with increased CD154 expression and higher CD4+ T cells percentage in rheumatoid arthritis patients

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