Association of autoimmune regulator gene polymorphism with susceptibility to rheumatoid arthritis in Egyptian population

Moneim, Nermeen Hassan A.; Mansour, Mona F.; Omar, Hanan Hassan; Fouad, Mohamed; Metwally, Lobna; El-Abaseri, Taghrid B.; Abdelnaby, Mai Mohamed

doi:10.1007/s12026-020-09127-7

Immunol Res

2020

DOI: 10.1007/s12026-020-09127-7

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Association of autoimmune regulator gene polymorphism with susceptibility to rheumatoid arthritis in Egyptian population

Nermeen Hassan A. Moneim

Mona F. Mansour

Hanan Hassan Omar

et al.

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Cited by 3 publications

(1 citation statement)

References 19 publications

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“…Furthermore, Terao et al demonstrated genotypespecific AIRE expression in lymphoblastoid cells using the Gene Expression Omnibus database and raised the idea that different genotypes may alter disease activity (56). Allelic polymorphisms of rs878081 have been analyzed in Chinese, Egyptian, and Spanish populations (25,56,57). Yang et al measured AIRE expression in blood lymphocytes and found significant differences between rs878081 TT and CC homozygotes in Asian populations (56).…”

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confidence: 99%

Association BetweenAIREPolymorphisms rs870881(C>T), rs1003854(T>C) and Rheumatoid Arthritis Risk: A Hungarian Case-control Study

BERCZI,

NUSSER,

PETER

et al. 2024

In Vivo

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Background/Aim: Autoimmune regulator (AIRE) is a transcription factor that plays pivotal role in controlling autoimmunity. In the thymus, it supports the presentation of peripheral tissue antigens to developing T cells, where recognition of these self-antigens negatively selects the autoimmune naïve T-cells by central tolerance. Studies demonstrated that single-nucleotide polymorphisms (SNPs) in AIRE alter transcription and propagate clonal survival of autoimmune T cells, therefore increase susceptibility to autoimmune diseases. This study intended to identify SNPs in exon and intron sequences that determine AIRE transcription, where their genotypes are associated with rheumatoid arthritis (RA) risk and clinical parameters. Patients and Methods: After a thorough in silico research, we enrolled 100 patients with RA and 100 healthy controls to analyze the association of SNP rs870881(C>T) and rs1003854(T>C) in AIRE coding sequence with RA risk by using five different genetic models and selected clinical parameters. Multiplex quantitative polymerase chain reaction was used to determine allelic discrimination of SNPs. RA risk was assessed by odds ratios (ORs) and confidence intervals (CIs). Results: In a recessive model of rs878081, minor allele TT homozygotes were associated with RA (p=0.032, OR=5.44,; in a recessive model of rs1003854, minor allele CC homozygotes were associated with RA (p=0.047, OR=4.84,. Higher C-reactive protein (CRP) levels in patients with RA were significantly associated with minor allele homozygotes in recessive and codominant genetic models (p=0.029 and p=0.043, respectively) of rs1003854. Conclusion: Genotypes for minor alleles of rs878081 and rs1003854 might be involved in RA pathogenesis and risk prediction.

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mentioning

confidence: 99%

Association BetweenAIREPolymorphisms rs870881(C>T), rs1003854(T>C) and Rheumatoid Arthritis Risk: A Hungarian Case-control Study

BERCZI,

NUSSER,

PETER

et al. 2024

In Vivo

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Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study

Ghafar

Elshora

Allam

et al. 2023

IJMS

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This study aimed to assess the possible association between two single nucleotide polymorphisms (SNPs) of the autoimmune regulator (AIRE) gene (rs2075876 G/A and rs760426 A/G) with the risk of primary immune thrombocytopenia (ITP), as well as AIRE serum levels, in the Egyptian population. In this case-control study, 96 cases with primary ITP and 100 healthy subjects were included. Two SNPs of the AIRE gene (rs2075876 G/A and rs760426 A/G) were genotyped via Taqman allele discrimination real-time polymerase chain reaction (PCR). Additionally, serum AIRE levels were measured using the enzyme-linked immunosorbent assay (ELISA) technique. After adjusting for age, gender, and family history of ITP, the AIRE rs2075876 AA genotype and A allele were associated with increased ITP risk (adjusted odds ratio (aOR): 4.299, p = 0.008; aOR: 1.847, p = 0.004, respectively). Furthermore, there was no significant association between AIRE rs760426 A/G different genetic models and ITP risk. A linkage disequilibrium revealed that A-A haplotypes were associated with an increased ITP risk (aOR: 1.821, p = 0.020). Serum AIRE levels were found to be significantly lower in the ITP group, positively correlated with platelet counts, and were even lower in the AIRE rs2075876 AA genotype and A allele, as well as A-G and A-A haplotype carriers (all p < 0.001). The AIRE rs2075876 genetic variants (AA genotype and A allele) and A-A haplotype are associated with an increased ITP risk in the Egyptian population and lower serum AIRE levels, whereas the SNP rs760426 A/G is not.

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Role of Autoimmune Regulator Protein (AIRE-P) in the Pathophysiology of Autism Spectrum Disorder (ASD)in Saudi Children

Al-Ghabban,

Al-Ayadhi

2023

Arch Pharm Pract

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Association of autoimmune regulator gene polymorphism with susceptibility to rheumatoid arthritis in Egyptian population

Cited by 3 publications

References 19 publications

Association BetweenAIREPolymorphisms rs870881(C>T), rs1003854(T>C) and Rheumatoid Arthritis Risk: A Hungarian Case-control Study

Association BetweenAIREPolymorphisms rs870881(C>T), rs1003854(T>C) and Rheumatoid Arthritis Risk: A Hungarian Case-control Study

Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study

Role of Autoimmune Regulator Protein (AIRE-P) in the Pathophysiology of Autism Spectrum Disorder (ASD)in Saudi Children

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