The −675 4G/5GPAI-1polymorphism confers genetic susceptibility to systemic lupus erythematosus, its clinical manifestations, and comorbidities in Mexican-Mestizo population

Anaya-Macías, Brian Uriel; Cruz-Mosso, Ulises De la; Palafox‐Sánchez, Claudia Azucena; Parra‐Rojas, Isela; Martínez-Bonilla, Gloria; González-López, Laura; Gámez-Nava, Jorge I.; Pérez-Guerrero, Edsaúl Emilio; Barrientos-Avalos, S L; Muñoz‐Valle, José Francisco

doi:10.1080/08916934.2019.1700957

Cited by 6 publications

(4 citation statements)

References 38 publications

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“…Anaya-Macias et al reported that the PAI-1 4G/4G genotype and 4G allele were identified as genetic markers for increased susceptibility to SLE in Mexican-Mestizo population. 27 Eldeeb et al studied the PAI-1 4G/5G SNP on genomic DNA of 170 Egyptian patients with adult-onset SLE. The authors concluded that the PAI-1 4G homozygote was identified as a risk factor for developing proliferative LN.…”

Section: Discussionmentioning

confidence: 99%

Association of Plasminogen Activator Inhibitor 1 (PAI-1) 4G/5G Polymorphism and Susceptibility to SLE in Egyptian Children and Adolescents: A Multicenter Study

Yousef¹,

Mohamed²,

Boraey³

et al. 2020

JIR

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Background Plasminogen activator inhibitor-1 (PAI-1) is a key molecule residing at the nexus between thrombosis and inflammatory processes. Recently, PAI-1 and its gene expression have emerged as a potential candidate for autoimmune disorders such as SLE. Objective To investigate whether the PAI-1 4G/5G polymorphism at position −675 could be a genetic marker for susceptibility to childhood-onset SLE and development of lupus nephritis among Egyptian children and adolescents. Methods Three hundred fifty patients diagnosed with childhood-onset SLE and 350 well-matched healthy controls were included in this multi-center study. All subjects were genotyped for the PAI-1 promoter 4G/5G polymorphism at position −675 using PCR– restriction fragment length polymorphism (RFLP). Serum PAI-1 levels were measured by ELISA. Results The PAI-1 (- 675) 4G/4G genotype was more represented in c-SLE patients, as compared to the control group (38% vs 23%; OR =2.7; [95% CI: 1.47–2.9]; P < 0.001). Patients carrying the PAI-1 4G/4G genotype or 4G allele were more likely to develop lupus nephritis (OR: 3.38; [95% CI: 1.9–5.9]; P <0.001, for the 4G/4G genotype and OR: 2.6; [95% CI: 1.85–3.67]; for the 4G allele; P < 0.01). The PAI-1 4G/4G genotype was associated with higher PAI-1 serum concentrations (mean; 86.6±22.7 ng/mL) as compared to those with a 4G/5G genotype (mean; 48.3±16.5 ng/mL) and the lowest for the 5G/5G genotype (mean; 34.7±11.4 ng/mL); P = 0.004. Conclusion The PAI-1 4G/5G polymorphism may confer susceptibility to childhood-onset SLE and development of lupus nephritis among Egyptian children and adolescents. Moreover, the PAI-1 4G/4G genotype and 4G allele were associated with higher PAI-1 serum levels and higher disease activity scores.

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Section: Discussionmentioning

confidence: 99%

Association of Plasminogen Activator Inhibitor 1 (PAI-1) 4G/5G Polymorphism and Susceptibility to SLE in Egyptian Children and Adolescents: A Multicenter Study

Yousef¹,

Mohamed²,

Boraey³

et al. 2020

JIR

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“…According to recent research, PAI-1 controls airway remodeling, hyperresponsiveness, and allergic inflammation, which may contribute to the onset of asthma (Ma et al, 2009). Many research are looking into the relationship between PAI-1 4G/5G polymorphisms and a variety of disorders, such as thrombosis (Zhang et al, 2020a), systemic lupus erythematosus (Anaya-Macias et al, 2020), thyroid eye disease (Katko et al, 2021), metabolic syndrome (Zhang et al, 2020b) and many more. Previous research from our center has shown that the PAI-1 4G/ 5G polymorphism may be useful for determining the prognosis of Chinese patients with venous thromboembolism (Wang et al, 2022).…”

Section: Discussionmentioning

confidence: 99%

The 4G/5G polymorphism of plasminogen activator inhibitor type 1 is a predictor of allergic cough

Tang

Lyu²,

Li³

et al. 2023

Front. Genet.

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Background: It has been suggested that genetic factors may be substantially linked to allergy disorders. This study aims to investigate the relationship between the genetic susceptibility of Chinese patients with allergy disorders and the polymorphisms of plasminogen activator inhibitor 1 gene (PAI-1) rs1799762, cysteinyl leukotriene receptor 1 gene (CYSLTR1) rs320995, gasdermin B gene (GSDMB) rs7216389, glycoprotein IIIa gene (GPIIIa) rs5918, glycoprotein Ib alpha gene (GP1BA) rs6065, platelet endothelial aggregation receptor 1 gene (PEAR1) rs12041331, and tumor necrosis factor alpha gene (TNF-α) rs1800629.Methods: From the Peking Union Medical College Hospital, this study enrolled 60 healthy participants and 286 participants with allergic diseases. TaqMan-minor groove binder (MGB) quantitative polymerase chain reaction (qPCR) was used to examine the gene polymorphisms in each group.Results: The TaqMan-MGB qPCR results were completely consistent with the DNA sequencing results, according to other studies in this medical center (Kappa = 1, p < .001). Only the distribution of PAI-1 rs1799762 was different between patients with allergic cough and healthy people (χ2 = 7.48, p = .0238). With regard to cough patients, the 4G4G and 5G5G genotypes were more frequent (allergic cough vs. healthy individuals: 4G4G 57.9% vs. 26.7%; 5G5G 20.0% vs. 13.3%), but the 4G5G genotype was more frequent in healthy people (allergic cough vs. healthy individuals: 45.7% vs. 60.0%). The CYSLTR1 rs320995, GSDMB rs7216389, GPIIIa rs5918, GP1BA rs6065, PEAR1 rs12041331, and TNF-α rs1800629 polymorphisms, however, did not show any of such relationships.Conclusion: The PAI-1 rs1799762 polymorphisms may be associated with the genetic susceptibility of Chinese allergic disease patients with cough performance.

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“… 17–20 For its role in autoimmune diseases, systemic lupus erythematosus (SLE) and rheumatoid arthritis have been studied, 24 and an association has been found between the 4G allele and the development of SLE. 25 , 26 …”

Section: Discussionmentioning

confidence: 99%

“…[17][18][19][20] For its role in autoimmune diseases, systemic lupus erythematosus (SLE) and rheumatoid arthritis have been studied, 24 and an association has been found between the 4G allele and the development of SLE. 25,26 Data on PAI-1 polymorphisms in TED, up till now, have not been published, and only few candidate other genes have been studied in this respect. CTLA-4, 27 vitamin D receptor, 28 TNF, IL-10 29 and deiodinase-2 polymorphisms 30 were recently described in patient cohorts of comparable size.…”

Section: Discussionmentioning

confidence: 99%

The 4G/5G Polymorphism of Plasminogen Activator Inhibitor Type 1 is a Predictor of Moderate-to-Severe Thyroid Eye Disease

Katkó¹,

Galgoczi²,

Erdei³

et al. 2021

JIR

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Introduction Thyroid eye disease (TED) is an autoimmune disease of the orbits. Once developed, complete cure is rare. Plasminogen activator inhibitor type 1 (PAI-1) contributes to remodeling of connective tissue and has a central role in the pathogenesis of TED. We aimed to test if the 4G/5G polymorphism of PAI-1 is a predictor of the development of moderate-to-severe TED. Methods A total of 185 patients with Graves’ disease, 87 of them with TED, 98 without TED, as well as 201 healthy controls, were studied. Genomic DNA was isolated from peripheral blood samples. The 4G/5G polymorphism of the PAI-1 gene was analyzed by allele-specific PCR, and the distribution of genotypes was calculated in each group. Plasma PAI-1 and thyroid hormone levels were measured by ELISA and ECLIA, respectively. Results The 4G/4G genotype was associated with the development of moderate-to-severe TED (OR = 2.54; 95% CI: 1.26–5.14; p < 0.01). The 4G/5G polymorphism of PAI-1 was not a predictor of plasma PAI-1 levels. Conclusion The 4G/4G genotype of PAI-1 is a risk factor for the development of moderate-to-severe TED. Patients with Graves’ disease who harbor this genotype may be candidates for special attention towards the development of TED.

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The −675 4G/5GPAI-1polymorphism confers genetic susceptibility to systemic lupus erythematosus, its clinical manifestations, and comorbidities in Mexican-Mestizo population

Cited by 6 publications

References 38 publications

<p>Association of Plasminogen Activator Inhibitor 1 (PAI-1) 4G/5G Polymorphism and Susceptibility to SLE in Egyptian Children and Adolescents: A Multicenter Study</p>

<p>Association of Plasminogen Activator Inhibitor 1 (PAI-1) 4G/5G Polymorphism and Susceptibility to SLE in Egyptian Children and Adolescents: A Multicenter Study</p>

The 4G/5G polymorphism of plasminogen activator inhibitor type 1 is a predictor of allergic cough

The 4G/5G Polymorphism of Plasminogen Activator Inhibitor Type 1 is a Predictor of Moderate-to-Severe Thyroid Eye Disease

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