The functional PTPN22 C1858T polymorphism confers risk for rheumatoid arthritis in patients from Central Mexico

Rincón, J. F. Mendoza; Cano, D. López; Morales, Silvia Jiménez; Jiménez, Marcos; Cobos, Rosa Elda Barbosa; Ramírez‐Bello, Julián

doi:10.1007/s10067-016-3223-z

Cited by 18 publications

(15 citation statements)

References 41 publications

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“…Finally, 45 publication containing 23584 cases and 24497 healthy controls were identified as eligible publications for meta‐analyzing the association of the PTPN22 gene rs2476601 polymorphism and RA susceptibility. Of these 45 publication, 26 publications were conducted in Caucasians, 3,28–52 eight publications were in Asian countries, 53–60 seven publications were in African countries 61–67 and five publications were in countries with mixed ethnicity, which included Africans, Latins, American‐Africans and Caucasians 10,68–70 . Among the included studies, Rodriguez et al 46 evaluated the association of the PTPN22 gene rs2476601 SNP and RA in six countries (Spain, New Zealand, Norway, Germany, UK and The Netherlands), although the results were reported in one article; therefore, we enumerated this as one eligible publication.…”

Section: Resultsmentioning

confidence: 99%

PTPN22 gene polymorphism and susceptibility to rheumatoid arthritis (RA): Updated systematic review and meta‐analysis

Abbasifard

Imani

Bagheri‐Hosseinabadi

2020

The Journal of Gene Medicine

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Background Several genome‐wide association studies have revealed a genetic background with respect to susceptibility to rheumatoid arthritis (RA). Although several individual case–control studies have evaluated the role of protein tyrosine phosphatase non‐receptor 22 (PTPN22) gene rs2476601 single nucleotide polymorphism (SNP) in conferring a risk for RA, the results have been conflicting. Hence, this meta‐analysis was aimed to provide a solution for this issue. Methods To search for studies assessing the association between the PTPN22 gene rs2476601 SNP and the risk of RA, a systematic search was conducted in the main databases, including PubMed, Scopus and Web of Science, prior to December 2019. The odds ratio (OR) and corresponding 95% confidence interval (CI) was calculated to assess the possibility of association risk. Results The literature search identified 52 case–control studies. The pooled analysis detected significant positive association of rs2476601 in all genetic models, including dominant model (OR = 1.69, 95% CI = 1.55–1.84, P < 0.001), recessive model (OR = 2.50, 95% CI = 2.06–3.05, P < 0.001), allelic model (OR = 1.80, 95% CI = 1.60–2.2, P < 0.001), TT versus CC model (OR = 2.79, 95% CI = 2.28–3.41, P < 0.001) and CT versus CC model (OR = 1.59, 95% CI = 1.50–1.67, P < 0.001). Analyses based on population stratification indicated that rs2476601 SNP strongly increased the risk of RA in Caucasians and Africans under all genotype models. Conclusions This meta‐analysis reports that the PTPN22 gene rs2476601 SNP increases RA risk, especially in Caucasians and Africans.

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Section: Resultsmentioning

confidence: 99%

PTPN22 gene polymorphism and susceptibility to rheumatoid arthritis (RA): Updated systematic review and meta‐analysis

Abbasifard

Imani

Bagheri‐Hosseinabadi

2020

The Journal of Gene Medicine

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“…Mexico City, located in central Mexico, is formed by approximately 50% Amerindian, 45% Caucasian, and 5% African ancestry (Martinez-Marignac et al, 2007). On the other hand, regions located in Western or Southeastern Mexico have a markedly different ethnic composition (Martínez-Cortés et al, 2012;Rincón et al, 2016). As far as we can tell, this is the first study showing an individual association (Hom et al, 2008) 70.2 (Huang et al, 2017) 13.1 (Sánchez et al, 2011) rs2736340C/T T allele 68.4 64.1 23.2 (Hom et al, 2008) 70.9 (Dang et al, 2016) 13.4 (Guthridge et al, 2014) BANK1 rs10516487G/A A allele 15.9 14.8 27.6 (Orozco el at., 2009) 13.9 (Dang et al, 2016) 26.0 (Martínez-Bueno et al, 2018) rs3733197G/A A allele 21.8 20.3 30.4 (Orozco et al, 2009) 22.0 (Huang et al, 2017) 21.5 (Bueno et al, 2018 between BANK1 rs1051648T/C and RA.…”

Section: Discussionmentioning

confidence: 99%

Association of BLK and BANK1 Polymorphisms and Interactions With Rheumatoid Arthritis in a Latin-American Population

et al. 2020

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Introduction: BLK has been identified as a risk factor to rheumatoid arthritis (RA) primarily in Asian or European-derived populations. However, this finding has not been evaluated in other populations such as Latin-Americans, except for Colombians. On the other hand, BANK1 single nucleotide variants (SNVs) have been scarcely studied in RA patients. Objective: The aim of this study was to determine whether the BLK rs2736340T/C, rs13277113A/G, and BANK1 rs10516487G/A (R61H) and rs3733197G/A (A383T) polymorphisms are risk factors to RA in a sample of patients from Central Mexico. Materials and Methods: We studied 957 women; 487 controls and 470 patients with RA by means of a TaqMan® SNP genotyping assay with fluorescent probes for the BLK rs13277113A/G, rs2736340T/C and BANK1 10516487G/A (R61H) and rs3733197G/A (A383T) variants. Result: The BLK rs2736340T/C and rs13277113A/G variants were associated with risk for RA: C vs T; OR 1.39, p = 0.001, and G vs A; OR 1.37, p = 0.004, respectively. In addition, there was also an association between BANK1 R61H and RA: A vs G; OR 1.49, p = 0.003, but no with BANK1 A383T. We also identified an interaction significant between genotypes of BLK rs2736340T/C-BANK1 rs10516487G/A and RA: OR 1.65, p = 0.0001. Conclusions: Our data suggest that both BLK and BANK1 confer susceptibility to RA in Mexican patients. The individual association of BANK1 rs1054857G/A with RA had not been previously reported in a particular population (except for pooled patients from several countries), therefore, our study presents the first evidence of association between this BANK1 variant and RA.

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“…For example, in a study carried out in Mexico City (using autosomal ancestry-informative markers [AIMs]), it was identified that the individuals had 50% Amerindian, 45% Caucasian, and 5% African ancestry [40]. Meanwhile, individuals from Guadalajara and Morelia (both located in Western Mexico), and Culiacan (located in Northern Mexico) have a high percentage of European ancestry and a low percentage of Amerindian ancestry [19,20]. In another population like Yucatan (located in Southeastern Mexico), which presents a high Amerindian ancestry [20], this SLE-susceptibility locus has not been analyzed.…”

Section: Discussionmentioning

confidence: 99%

“…Guadalajara and Morelia are located in Western Mexico; meanwhile, Culiacan is located in northern Mexico. These places are well known for having a high European ancestry (except Mexico City) and low Amerindian ancestry [19,20]. However, in populations with high Amerindian ancestry, like Yucatan (located southeast of Mexico) [20], ITGAM has not been evaluated.…”

Section: Introductionmentioning

confidence: 99%

ITGAM is a risk factor to systemic lupus erythematosus and possibly a protection factor to rheumatoid arthritis in patients from Mexico

et al. 2019

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IntroductionITGAM has consistently been associated with susceptibility to systemic lupus erythematosus (SLE) in many ethnically diverse populations. However, in populations with higher Amerindian ancestry (like Yucatan) or highly admixed population (like Mexican), ITGAM has seldom been evaluated (except few studies where patients with childhood-onset SLE were included). In addition, ITGAM has seldom been evaluated in patients with rheumatoid arthritis (RA). Here, we evaluated whether four single nucleotide polymorphisms (SNPs), located within ITGAM, were associated with SLE and RA susceptibility in patients from Mexico.MethodsOur study consisted of 1,462 individuals, which included 363 patients with SLE (292 from Central Mexico and 71 from Yucatan), and 621 healthy controls (504 from Central Mexico and 117 from Yucatan). Our study also included 478 patients with RA from Central Mexico. TaqMan assays were used to obtain the genotypes of the four SNPs: rs34572943 (G/A), rs1143679 (G/A), rs9888739 (C/T), and rs1143683 (C/T). We also verified the genotypes by Sanger sequencing. Fisher's exact test and permutation test were employed to evaluate the distribution of genotype, allele, and haplotype between patients and controls.ResultsOur data show that all four ITGAM SNPs are significantly associated with susceptibility to SLE using both genotypic and allelic association tests (corrected for multiple testing, but not for population stratification). A second study carried out in patients from Yucatan, a southeastern part of Mexico (with a high Amerindian ancestry), also replicated SLE association with all four SNPs, including the functional SNP, rs1143679 (OR = 24.6 and p = 9.3X10-6). On the other hand, none of the four SNPs are significant in RA after multiple testing. Interestingly, the GACC haplotype, which carries the ITGAM rs1143679 (A) minor allele, showed an association with protection against RA (OR = 0.14 and p = 3.0x10-4).ConclusionOur data displayed that ITGAM is a risk factor to SLE in individuals of Mexican population. Concurrently, a risk haplotype in ITGAM confers protection against RA.

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The functional PTPN22 C1858T polymorphism confers risk for rheumatoid arthritis in patients from Central Mexico

Cited by 18 publications

References 41 publications

PTPN22 gene polymorphism and susceptibility to rheumatoid arthritis (RA): Updated systematic review and meta‐analysis

PTPN22 gene polymorphism and susceptibility to rheumatoid arthritis (RA): Updated systematic review and meta‐analysis

Association of BLK and BANK1 Polymorphisms and Interactions With Rheumatoid Arthritis in a Latin-American Population

ITGAM is a risk factor to systemic lupus erythematosus and possibly a protection factor to rheumatoid arthritis in patients from Mexico

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