Genetic Polymorphisms of <i>Foxp3</i> in Patients with Rheumatoid Arthritis

Paradowska‐Gorycka, Agnieszka; Jurkowska, Monika; Felis-Giemza, Anna; Romanowska-Próchnicka, Katarzyna; Mańczak, Małgorzata; Maśliński, S; Olesińska, Marzena

doi:10.3899/jrheum.131381

Cited by 27 publications

(40 citation statements)

References 49 publications

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“…Here, we have identified two miRNA clusters neighboring genetic variants that have been previously associated with RA and localized in the FOXP3 gene. These two FOXP3 SNPs (rs3761548 and rs223236) are localized in the promoter region and are correlated with disease activity, joint damage, and laboratory variables [40]. Such associations suggest that T cells take part in the pathogenesis of RA.…”

Section: Discussionmentioning

confidence: 99%

X-Linked miRNAs Associated with Gender Differences in Rheumatoid Arthritis

Khalifa

Pers

Ferreira

et al. 2016

IJMS

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Rheumatoid arthritis (RA) is an autoimmune disease that predominantly affects women. MicroRNAs have emerged as crucial regulators of the immune system, whose expression is deregulated in RA. We aimed at quantifying the expression level of 14 miRNAs located on the X chromosome and at identifying whether differences are associated with disease and/or sex. A case–control study of 21 RA patients and 22 age- and sex-matched healthy controls was performed on peripheral blood mononuclear cells. The expression level of five miRNAs (miR-221, miR-222, miR-532, miR-106a, and miR-98) was significantly different between RA and controls when stratifying by sex, and the expression level of four miRNAs (miR-222, miR-532, miR-98, and miR-92a) was significantly different between RA females and males. The expression quantitative trait loci (eQTL) analysis revealed a significant gender effect of the FoxP3 promoter polymorphism rs3761548A/C on miR-221, miR-222 and miR-532 expression levels, and of the FoxP3 polymorphism rs2232365A/G on miR-221 expression levels in PBMC of RA patients. These data further support the involvement of the X chromosome in RA susceptibility. X-linked miRNAs, in the context of sex differences, might provide novel insight into new molecular mechanisms and potential therapeutic targets in RA for disease treatment and prevention.

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Section: Discussionmentioning

confidence: 99%

X-Linked miRNAs Associated with Gender Differences in Rheumatoid Arthritis

Khalifa

Pers

Ferreira

et al. 2016

IJMS

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“…Three SNPs in the promoter region, –3499 A/G (rs3761547), –3279 A/C (rs3761548), and –924 A/G (rs2232365), were analyzed as follows: Genomic DNA was extracted from LT‐recipient PBMCs by using the Wizard SV Genomic DNA Purification System (Promega Corporation, Madison, WI) according to the manufacturer's protocol. The three SNPs were detected by polymerase chain reaction restriction fragment length polymorphism as described . The primers and enzymes used in this technique are listed in http://onlinelibrary.wiley.com/doi/10.1002/hep4.1052/suppinfo.…”

Section: Methodsmentioning

confidence: 99%

Significant association between FOXP3 gene polymorphism and steroid‐resistant acute rejection in living donor liver transplantation

Verma

Tanaka

Shimizu

et al. 2017

Hepatology Communications

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Previous studies have found that preferential accumulation of regulatory T (Treg) cells in liver allografts during acute cellular rejection (ACR) is associated with less severe rejection, suggesting a role of Treg cells in preventing excessive progress of ACR. We investigated the impact of single nucleotide polymorphisms (SNPs) in the Forkhead box P3 (FOXP3) gene, a master regulator gene of Treg cells, on ACR severity in liver transplant (LT) recipients. In total, 102 living donor LT patients were enrolled in this study and categorized into no rejection (n = 86), steroid‐sensitive acute rejection (SSAR; n = 11), and steroid‐resistant acute rejection (SRAR; n = 5). FOXP3 SNPs –3499 A/G (rs3761547), –3279 A/C (rs3761548), and –924 A/G (rs2232365) were genotyped using the polymerase chain reaction restriction fragment length polymorphism technique. T‐cell responses to allostimulation were evaluated by the mixed lymphocyte reaction assay. We found no statistical association between the FOXP3 SNP genotype frequencies and ACR incidence. However, significantly higher incidence of SRAR was observed in LT patients with the FOXP3 rs3761548 A/C+A/A genotype than in those with the C/C genotype (A/C+A/A versus C/C; no rejection, SSAR, SRAR, 85.71%, 0%, 14.29% versus 83.58%, 16.42%, 0%, respectively; P = 0.0005). The mixed lymphocyte reaction assay performed at the time of ACR diagnosis showed higher anti‐donor CD4+ T‐cell responses in patients carrying rs3761548 A/C+A/A than in those with the C/C genotype (P = 0.019). No significant association was observed between the incidence of SRAR and either rs3761547A/G or rs2232365 A/G. Infectious complications and overall survival were not related to FOXP3 SNPs. Conclusion: Our findings indicate that FOXP3 SNP rs3761548 A/C might be a predisposing factor for SRAR after liver transplantation. (Hepatology Communications 2017;1:406–420)

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“…For g.10403A>G genotyping, the following primers were used: 5′-AGGAGAAGGAGTGGGCATTT–3′ (forward) and 5′-TGTGAGTGGAGGAGCTGAGG–3′ (reverse), according to Paradowska-Gorycka, Jurkowska [29]. The g.8048A>C genotyping was performed with the following primers: 5′-GGCAGAGTTGAAATCCAAGC–3′ (forward) and 5′-CAACGTGTGAGAAGGCAGAA–3′ (reverse), according to He et al [25].…”

Section: Methodsmentioning

confidence: 99%

FOXP3Allelic Variants and Haplotype Structures Are Associated with Aggressive Breast Cancer Subtypes

et al. 2017

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FOXP3 genetic polymorphisms have been associated with cancer development and prognosis. In this context, the present study aimed to evaluate the g.10403A>G (rs2232365) polymorphisms and g.8048A>C (rs3761548), in aggressive breast cancer (BC) subtypes, including, Luminal B HER2+ (LB), HER2-enriched (HER2+), and triple-negative (TN). Polymerase chain reaction followed by enzymatic restriction was performed to genotyping 117 BC samples and 300 controls. A significant association of AA genotype (g.10403A>G) in relation to BC susceptibility (OR = 1.93; 95% CI = 1.01–3.66; p = 0.046) was observed. The GG (g.10403A>G) genotype was correlated with higher proliferation index (Ki-67) in HER2+ subtype (τ = 0.47; p = 0.019) and advanced TNM staging in TN (τ = 0.23; p = 0.032). A correlation of AA genotype (g.8048A>C) with higher Ki-67 (τ = −0.47; p = 0.018) and lower histological grade (τ = 0.39; p = 0.026) in HER2+ was also found. GA haplotype was correlated with lower histological grade (τ = −0.15; p = 0.009) and higher Ki-67 (τ = 0.43; p = 0.036) in HER2+ and advanced staging in TN (τ = 0.29; p = 0.044). On the other hand, AC haplotype was correlated with lower Ki-67 (τ = −0.54; p = 0.005) and staging (τ = −0.29; p = 0.027) in HER2+ and TN respectively. Results showed that FOXP3 influence regarding clinical outcome depends greatly on the BC subtype and indicated this transcription factor as a promising marker in aggressive BC subtypes.

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Genetic Polymorphisms of Foxp3 in Patients with Rheumatoid Arthritis

Abstract: Current findings indicated that the Foxp3 genetic polymorphism and the Foxp3 protein level may be associated with susceptibility to RA in the Polish population.

Cited by 27 publications

References 49 publications

X-Linked miRNAs Associated with Gender Differences in Rheumatoid Arthritis

X-Linked miRNAs Associated with Gender Differences in Rheumatoid Arthritis

Significant association between FOXP3 gene polymorphism and steroid‐resistant acute rejection in living donor liver transplantation

FOXP3Allelic Variants and Haplotype Structures Are Associated with Aggressive Breast Cancer Subtypes

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