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Objective: This study was performed to replicate the associations of genetic polymorphisms within nuclear factor-κB (NF-κB) signaling pathway genes with rheumatoid arthritis (RA), and to further examine genetic interactions in a Chinese population.
Methods: A total of eleven single-nucleotide polymorphisms (SNPs) were genotyped in 594 RA patients and 604 healthy controls.
Results: Genetic association analysis revealed that NFKBIE rs2233434, TNIP1 rs10036748 and BLK rs13277113 were significantly associated with RA, cyclic citrullinated peptide (CCP)-positive RA and rheumatoid factor (RF)-positive RA, and TNFAIP3 rs2230926 was significantly associated with CCP-positive RA. Significant additive interaction was observed between NFKB1 rs28362491 and IKBKE rs12142086 (RERI = 0.76, 95% CI 0.13-1.38; AP = 0.57, 95% CI 0.11-1.03), NFKBIE rs2233434 and BLK rs13277113 (RERI = 1.41, 95% CI 0.88-1.94; AP = 0.85, 95% CI 0.50-1.20), NFKBIL rs2071592 and TNIP1 rs10036748 (RERI = 0.59, 95% CI 0.17-1.02; AP = 0.46, 95% CI 0.05-0.87), UBE2L3 rs5754217 and TNFSF4 rs2205960 (RERI = 0.50, 95% CI 0.16-0.84; AP = 0.57, 95% CI 0.09-1.05). Significant multiplicative interaction was detected between BLK rs13277113 and UBE2L3 rs5754217 (p = 0.02), BLK rs13277113 and TNFSF4 rs2205960 (p = 0.03).
Conclusions: Our results lent further support to the role of NF-κB signaling pathway in the pathogenesis of RA from a genetic perspective.
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http://dx.doi.org/10.1016/j.intimp.2021.108089 | DOI Listing |
Egypt J Immunol
October 2024
Department of Medical Microbiology and Immunology, Faculty of Medicine for Girls, Al-Azhar University, Cairo, Egypt.
This study examined the genotype, allelic frequencies (polymorphisms) in a sample of Egyptian patients and examined the relationship between disease activity in systemic lupus erythematosus (SLE) and the B lymphoid tyrosine kinase (BLK) and B-cell scaffold protein with ankyrin repeats 1 (BANK1) gene. This case control study involved 70 SLE patients and 40 subjects matched for age and sex as a control group. Clinical data were gathered from each participant, including SLE-related clinical activity indicators.
View Article and Find Full Text PDFDiscov Oncol
January 2023
Department of Otorhinolaryngology, Lithuanian University of Health Sciences (LUHS), A. Mickeviciaus 9, LT 44307, Kaunas, Lithuania.
Purpose: Results of laryngeal squamous cell carcinoma (LSCC) treatment and the 5 year survival rate of these patients remain poor. To purify therapeutic targets, investigation of new specific and prognostic blood-based markers for LSCC development is essential.
Methods: In the present study, we evaluated five single nucleotide polymorphisms (SNPs): IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, BLK rs13277113, and TIMP3 rs9621532, and determined their associations with the patients' 5 year survival rate.
CNS Neurosci Ther
December 2021
Department of Neurology, The Second Hospital of Hebei Medical University, City Shijiazhuang, Province Hebei, China.
Aim: This study aimed to determine the correlation between B-lymphoid tyrosine kinase (BLK) polymorphism, mRNA gene expression of BLK, and NMOSD in a Chinese Han population.
Background: B-lymphoid tyrosine kinase gene expressed mainly in B cells plays a key role in various autoimmune disorders. However, no studies have investigated the association of BLK polymorphisms with neuromyelitis optica spectrum disorder (NMOSD).
J Clin Rheumatol
September 2021
Int Immunopharmacol
November 2021
Department of Preventive Medicine, Medical School of Ningbo University, 818 Fenghua Road, Ningbo, Zhejiang, 315211, PR China; Zhejiang Provincial Key Laboratory of Pathophysiology, Medical School of Ningbo University, 818 Fenghua Road, Ningbo, Zhejiang, 315211, PR China. Electronic address: cenhan@n
Objective: This study was performed to replicate the associations of genetic polymorphisms within nuclear factor-κB (NF-κB) signaling pathway genes with rheumatoid arthritis (RA), and to further examine genetic interactions in a Chinese population.
Methods: A total of eleven single-nucleotide polymorphisms (SNPs) were genotyped in 594 RA patients and 604 healthy controls.
Results: Genetic association analysis revealed that NFKBIE rs2233434, TNIP1 rs10036748 and BLK rs13277113 were significantly associated with RA, cyclic citrullinated peptide (CCP)-positive RA and rheumatoid factor (RF)-positive RA, and TNFAIP3 rs2230926 was significantly associated with CCP-positive RA.