<i>FOXP3</i>polymorphisms in interstitial lung disease among Chinese Han population: A genetic association study

Yao, Jiaquan; Zhang, Tianze; Zhang, Lili; Han, Kui; Zhang, Linyou

doi:10.1111/crj.12649

Cited by 4 publications

(3 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The rs2280883 SNP is also linked to an increased risk of Graves' disease (Tan et al, 2021). Additionally, the association of the TC genotype of Foxp 3 rs2280883 was found with the risk of connective-tissue-disease-associated ILD [23]. Findings in other studies, together with the Foxp 3 -polymorphism-associated genetic effect on the risk of SLE identified in this study, confirm our hypothesis that Foxp 3 polymorphisms might be a proper candidate for use in autoimmune disease screening, including for SLE.…”

Section: Discussionmentioning

confidence: 96%

Crucial Role of Foxp3 Gene Expression and Mutation in Systemic Lupus Erythematosus, Inferred from Computational and Experimental Approaches

Birjan,

Khashei Varnamkhasti,

Parhoudeh

et al. 2023

Diagnostics

View full text Add to dashboard Cite

The impaired suppressive function of regulatory T cells is well-understood in systemic lupus erythematosus. This is likely due to changes in Foxp3 expression that are crucial for regulatory T-cell stability and function. There are a few reports on the correlation between the Foxp3 altered expression level and single-nucleotide polymorphisms within the Foxp3 locus. Moreover, some studies showed the importance of Foxp3 expression in the same diseases. Therefore, to explore the possible effects of single-nucleotide polymorphisms, here, we evaluated the association of IVS9+459/rs2280883 (T>C) and −2383/rs3761549 (C>T) Foxp3 polymorphisms with systemic lupus erythematosus. Moreover, through machine-learning and deep-learning methods, we assessed the connection of the expression level of the gene with the disease. Single-nucleotide polymorphisms of Foxp3 (IVS9+459/rs2280883 (T>C) and −2383/rs3761549 (C>T)) were, respectively, genotyped using allele-specific PCR and direct sequencing and polymerase chain reaction-restriction fragment length polymorphism, in 199 systemic lupus erythematosus patients and 206 healthy age- and sex-matched controls. The Statistical Package for the Social Sciences version 19 and Fisher’s exact and chi-square tests were used to analyze the data. Moreover, six machine-learning models and two sequential deep-learning models were designed to classify patients from normal people in the E-MTAB-11191 dataset through the expression level of Foxp3 and its correlated genes. The allele and genotype frequencies of both polymorphisms in question were found to be significantly associated with an increased risk of systemic lupus erythematosus. Furthermore, both of the two single-nucleotide polymorphisms were associated with some systemic-lupus-erythematosus-related risk factors. Three SVM models and the logistic regression model showed an 81% accuracy in classification problems. In addition, the first deep-learning model showed an 83% and 89% accuracy for the training and validation data, respectively, while the second model had an 85% and 79% accuracy for the training and validation datasets. In this study, we are prompted to represent the predisposing loci for systemic lupus erythematosus pathogenesis and strived to provide evidence-based support to the application of machine learning for the identification of systemic lupus erythematosus. It is predicted that the recruiting of machine-learning algorithms with the simultaneous measurement of the applied single nucleotide polymorphisms will increased the diagnostic accuracy of systemic lupus erythematosus, which will be very helpful in providing sufficient predictive value about individual subjects with systemic lupus erythematosus.

show abstract

Section: Discussionmentioning

confidence: 96%

Crucial Role of Foxp3 Gene Expression and Mutation in Systemic Lupus Erythematosus, Inferred from Computational and Experimental Approaches

Birjan,

Khashei Varnamkhasti,

Parhoudeh

et al. 2023

Diagnostics

View full text Add to dashboard Cite

show abstract

“…In the current study, a total of four FOXP3 SNPs rs3761547, rs3761548, rs3761549, and rs2232365 were selected based on the International HapMap Project database [24]. The FOXP3 rs3761547 was selected because the FOXP3 rs3761547 polymorphisms was suggested as a male-specific risk factor in multiple sclerosis [25], or important markers to determine susceptibility and risk of diseases such as Crohn's disease [26] and interstitial lung disease (ILD) [27]. The rs3761548 was selected because it was suggested that the FOXP3 rs3761548 SNPs could affect the susceptibility to gastric adenocarcinoma (GA) and the serum IL-35, IL-10, and TGF-β concentrations [20], and the rs3761548 polymorphism of FOXP3 gene may provide as a risk factor in the development of breast cancer (BC) [28].…”

Section: Selection Of Foxp3 Snpsmentioning

confidence: 99%

The impact of FOXP3 polymorphisms on oral cancer progression and clinicopathological characteristics

Chen¹,

Lin²,

Lu³

et al. 2023

J. Cancer

View full text Add to dashboard Cite

Oral cancer is the sixth leading cause of cancer mortality worldwide. Genetic, epigenetic, and epidemiological risk factors were suggested to be correlated with the carcinogenesis of oral cancer. In this study, we focused on the correlations of FOXP3 single-nucleotide polymorphisms (SNPs) to oral cancer susceptibility and clinicopathological characteristics. The FOXP3 SNPs rs3761547, rs3761548, rs3761549, and rs2232365 in 1053 controls and 1175 male patients with oral cancer were analyzed with real-time polymerase chain reaction. The results showed that the betel quid chewer who carried the FOXP3 rs3761548 polymorphic variant "T" were significantly associated with lower risk to develop oral cancer [AOR (95% CI) = 0.649 (0.437-0.964); p = 0.032]. The betel quid chewers with genotypic variant "T" of FOXP3 rs3761548 in male oral cancer patients were associated with lower risk of cell differentiated grade [AOR (95% CI) = 0.592 (0.377-0.930); p = 0.023]. The carriers of FOXP3 rs3761548 polymorphic variant "T" in male oral cancer patients with alcohol consumption were associated with lower risk to develop greater tumor [AOR (95% CI) = 0.609 (0.378-0.983); p = 0.042] and lower risk of cell differentiated grade [AOR (95% CI) = 0.440 (0.248-0.779); p = 0.005]. In conclusion, our results have revealed that the FOXP3 rs3761548 polymorphic variant "T" was associated with lower risk of oral cancer susceptibility, greater tumor size, and cell differentiated grade among betel quid chewers. The FOXP3 rs3761548 polymorphisms may play a role as pivotal biomarkers to predict oral cancer disease development and prognosis.

show abstract

“…Recently, prospective data were collected over 2 years in the north of India using the American Thoracic Society/European Respiratory Society (ATS/ERS) consensus statement on idiopathic interstitial pneumonias (IIP) as a benchmark and sarcoidosis was the most frequent diagnosis of ILD. Investigations about the role of both genetic and environmental factors have also been conducted and showed that FOXP3 polymorphisms might determine the susceptibility IIP or CTD‐ILD in Chinese Han population and African‐American race refers to a younger age at ILD diagnosis and a better survival . A new cluster analysis among adults with various chronic ILD has been conducted, and four distinct clinical phenotypes were identified, allowing a better prediction of clinical outcomes than the current ILD diagnostic criteria.…”

Section: Interstitial Lung Diseasementioning

confidence: 99%

Contemporary Concise Review 2018: Interstitial lung disease

2019

View full text Add to dashboard Cite

FOXP3polymorphisms in interstitial lung disease among Chinese Han population: A genetic association study

Abstract: FOXP3 polymorphisms may be important markers to determine susceptibility to IIP or CTP-ILD in Chinese population.

Cited by 4 publications

References 31 publications

Crucial Role of Foxp3 Gene Expression and Mutation in Systemic Lupus Erythematosus, Inferred from Computational and Experimental Approaches

Crucial Role of Foxp3 Gene Expression and Mutation in Systemic Lupus Erythematosus, Inferred from Computational and Experimental Approaches

The impact of FOXP3 polymorphisms on oral cancer progression and clinicopathological characteristics

Contemporary Concise Review 2018: Interstitial lung disease

Contact Info

Product

Resources

About