Analysis of the functional <i>NFKB1</i> promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus

Orozco, Gisela; Sánchez, Elena; Collado, María; López–Nevot, Miguel A.; Paco, Laura; Delgado, Antonio; Jiménez-Alonso, J; Martı́n, Javier

doi:10.1111/j.1399-0039.2005.00341.x

Cited by 36 publications

(26 citation statements)

References 21 publications

(28 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…[16][17][18] However, one study reported an epistatic interaction between NFKB1 and Fc receptor-like 3 (FCRL3) gene in Spanish-Caucasian patients with rheumatoid arthritis. 19 Interestingly, FCRL3 has been recently associated with susceptibility to GD.…”

Section: Nfkb1 Promoter Polymorphism In Graves' Disease a Kurylowicz mentioning

confidence: 99%

Association of NFKB1 −94ins/del ATTG promoter polymorphism with susceptibility to and phenotype of Graves' disease

et al. 2007

View full text Add to dashboard Cite

Recently, a functional polymorphism in the NFKB1 gene promoter (À94ins/del ATTG) has been identified and associated with chronic inflammatory diseases. The aim of this study was to analyze the association of NFKB1 polymorphism with susceptibility to and phenotype of Graves' disease (GD). The initial case-control association study, performed in a Polish-Warsaw cohort (388 GD patients and 688 controls), was followed by the two replication studies performed in Polish-Gliwice and JapaneseKurume cohorts (198 GD patients and 194 controls, and 424 GD patients and 222 controls, respectively). The frequency of the À94del ATTG (D) allele was increased in GD compared to controls in Warsaw cohort. This finding was replicated in Gliwice cohort. Combining both Polish-Caucasian cohorts showed that the NFKB1 polymorphism was significantly associated with susceptibility to GD with a codominant mode of inheritance (P ¼ 0.00005; OR ¼ 1.37 (1.18-1.60)). No association with GD was found in Japanese cohort. However, subgroup analysis in Japanese GD patients revealed a correlation between the NFKB1genotype and the development of ophthalmopathy (P ¼ 0.009; OR ¼ 1.49 (1.10-2.01)), and the age of disease onset (P ¼ 0.009; OR ¼ 1.45 (1.09-1.91)). Our results suggest that NFKB1 À94ins/del ATTG polymorphism may be associated with susceptibility to and/or phenotype of GD.

show abstract

Section: Nfkb1 Promoter Polymorphism In Graves' Disease a Kurylowicz mentioning

confidence: 99%

Association of NFKB1 −94ins/del ATTG promoter polymorphism with susceptibility to and phenotype of Graves' disease

et al. 2007

View full text Add to dashboard Cite

show abstract

“…In Rheumatoid Arthritis, both in vitro and in vivo studies indicate an important role of NF-jB signalling in the development and progress of the disease [13]. However, case-control studies performed in different populations failed to replicate the association of the NFKB1 polymorphism with rheumatoid arthritis (AR), systemic lupus erythematosus (SLE) and ankylosing spondylitis (AS) [14,15].…”

Section: Introductionmentioning

confidence: 99%

Interleukin‐10 Gene Promoter and NFKB1 Promoter Insertion/Deletion Polymorphisms in Systemic Sclerosis

et al. 2013

View full text Add to dashboard Cite

Systemic sclerosis (SSc) is a connective tissue disease characterized by fibrotic, immunological and vascular abnormalities. Nuclear factor-kB (NFKB), as a key transcription factor involved in the regulation of immune responses, appears to be a good candidate for studies on the pathogenesis of autoimmune diseases, as well as the interleukin-10 (IL-10) polymorphism, which other studies have suggested an association with SSc. Our objective was to study the association of NFKB and IL-10 gene polymorphisms with SSc. One hundred and fifty-one SSc patients and 147 healthy bone marrow donors were enrolled in a case-control study. Blood was collected for DNA extraction; typing of IL-10 genes was made by polymerase chain reaction with sequence-specific primers (PCR-SSP), and NFKB gene typing was made by restriction fragment length polymorphism (RFLP). Patients underwent clinical evaluation, serology, Doppler echocardiography and chest high-resolution computed tomography. The frequency of IL-10 (À1082) GG genotype was found to be significantly higher in SSc patients (36.4%) as compared to healthy controls (22.4%) (P = 0.012). The frequency of heterozygous genotype GA was significantly lower (P = 0.004) in patients (38.4%) in comparison with control subjects (55.8%). A predominance of the high-producing IL-10 phenotype (GCC + /GCC + ) was observed in SSc patients compared with healthy controls (37.7% versus 24.5%, respectively; OR: 1.87, 95% CI: 1.10-3.19, P = 0.019). No significant difference was found in the allelic and genotype distribution of the NFKB promoter polymorphism between patients and controls. No statistically significant associations were found between IL-10 or NFKB polymorphisms clinical and laboratory features of SSc. Our results confirmed the association of the high-producing phenotype (GCC + / GCC + ) with increased risk for SSc, but found no correlation with NFKB polymorphisms.

show abstract

“…According to Orozco et al NFKB1 SNP rs28362491 did not play a role in the development of RA and SLE in Spain population including 272 RA patients, 181 SLE patients, and 264 healthy individuals [55]. However, homozygosity of del allele of rs28362491 has an increased risk of RA in Spain population [73].…”

Section: Nfkb1 and Parp-1 Polymorphisms In Relation To Inflammatory Dmentioning

confidence: 99%

“…There is a growing amount of evidence that variations within the NFKB1 and NFKBIA genes potentially influence the function of NFKB during development of common inflammatory and autoimmune diseases both in health and various disease conditions such as ulcerative colitis [8,53], Crohn's disease [54], RA, SLE [55], psoriatic arthritis [56], giant cell arteritis [57], Celiac disease [58], Type 1 diabetes [59], oral submucous fibrosis [60], and oral squamous cell carcinoma [60].…”

Section: The Role Of Nfkb1 and Parp-1 Inflammatory Diseasementioning

confidence: 99%

A General Sight about Linking PARP-1 and NFKB1 Variations to the Inflammatory Events

Gk¹,

Yenmiş²,

Koc³

2014

Interdiscip J Microinflammation

View full text Add to dashboard Cite

Poly (ADP-ribose) polymerase-1 (PARP-1) has various roles in cellular processes such as DNA repair, genomic stability, transcription, stress response, and cell death via regulating death and inflammation signalling pathways. On the other hand, PARP-1 inhibition has been shown to provide benefits in experimental models of animals with inflammatory diseases such as asthma, atherosclerosis and diabetes. PARP-1 also acts a transcriptional coactivator of nuclear factor kappa B (NFKB). The NFKB is a ubiquitous transcription factor that controls the expression of genes encoding cell adhesion molecules, growth factors, cytokines, and some acute phase proteins. Inappropriate activation of NFKB has been mostly searched with inflammatory events. In complete and persistent inhibition studies of NFKB, apoptosis, inappropriate immune cell development and delayed cell growth were investigated. These findings might provide new perceptions in the pathogenesis of inflammatory disorders regarding the roles of PARP-1 and NFKB1 proteins. In this review, we focus on some variations (rs28362491, rs696, rs1136410, rs2793378, rs7527192) of PARP-1 and NFKB1 genes in relation to susceptibility to common inflammatory diseases including rheumatoid arthritis, systemic lupus erythematosus, allergic rhinitis, Graves' disease, Hashimoto's thyroiditis, asthma and Behcet's disease.

show abstract

Analysis of the functional NFKB1 promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus

Cited by 36 publications

References 21 publications

Association of NFKB1 −94ins/del ATTG promoter polymorphism with susceptibility to and phenotype of Graves' disease

Association of NFKB1 −94ins/del ATTG promoter polymorphism with susceptibility to and phenotype of Graves' disease

Interleukin‐10 Gene Promoter and NFKB1 Promoter Insertion/Deletion Polymorphisms in Systemic Sclerosis

A General Sight about Linking PARP-1 and NFKB1 Variations to the Inflammatory Events

Contact Info

Product

Resources

About