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

Kuryłowicz, Alina; Hiromatsu, Yuji; Jurecka‐Lubieniecka, Beata; Kula, Dorota; Kowalska, M.; Ichimura, Michiko; Koga, Hiroshi; Kaku, Hiroo; Bar-Andziak, Ewa; Nauman, J; Jarząb, Barbara; Płoski, Rafał; Bednarczuk, Tomasz

doi:10.1038/sj.gene.6364418

Cited by 41 publications

(30 citation statements)

References 35 publications

(44 reference statements)

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“…In the stomach, Lo et al (27) showed that the -94 deletion mutant had a significantly reduced risk for gastric carcinogenesis in China. Contrary to these results, several studies in Caucasians have shown that the -94 deletion mutant is associated with an increased risk for the development of inflammatory or auto-immune diseases (25,28). In colorectal carcinogenesis, Andersen et al (29) demonstrated that carriers of the NFKB1 -94 deletion were at a 1.45-fold higher risk than homozygous carriers of the insertion allele.…”

Section: Discussionmentioning

confidence: 65%

Functional promoter polymorphisms of NFKB1 influence susceptibility to the diffuse type of gastric cancer

et al. 2013

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Abstract. In the present study, we report an association between gastric cancer and polymorphisms in NFKB1 (rs28362941 and rs78696119). We employed the PCR-SSCP method to detect gene polymorphisms in 479 gastric cancer cases and 880 controls. The rs28362941 del/del homozygote was significantly associated with gastric cancer development; in particular it was closely associated with diffuse type gastric cancer. The rs78696119 GG homozygote was also associated with the diffuse type of gastric cancer. In young subjects, both polymorphisms were significantly associated with the development of gastric cancer. In addition, both polymorphisms were related to tumor progression such as tumor invasion and lymph node metastasis. The inflammatory cell infiltration into non-cancerous gastric mucosa was greater in the subjects with the rs28362491 del/del or rs78696119 GG genotype when compared to those with the other genotypes. In conclusion, functional polymorphisms of NFKB1 are associated with an increased risk of gastric cancer; in particular they are closely associated with the development of diffuse type of gastric cancer via severe gastric inflammation. These polymorphisms also appear to be associated with gastric cancer progression.

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Section: Discussionmentioning

confidence: 65%

Functional promoter polymorphisms of NFKB1 influence susceptibility to the diffuse type of gastric cancer

et al. 2013

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“…One of the most prominent polymorphisms known within the promoter of this gene is -94 ins/del ATTG rs28362491. A potential candidate for searching pathogenesis of inflammatory diseases, rs28362491, is shown to be associated with increased risk in rheumatoid arthritis [24], Graves's disease [25] and type 1 diabetes mellitus [26], whereas no associations with Hashimoto thyroiditis (HT) [27] and multiple sclerosis [28] have been yet shown. In addition, in American [13] and Dutch populations [29], rs28362491 in the NFKB1 gene was associated with UC development but not in Spanish [30] and British populations [31].…”

Section: Discussionmentioning

confidence: 99%

Association of NFKB1 and NFKBIA Polymorphisms in Relation to Susceptibility of Behçet's Disease

et al. 2014

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Behc ßet's disease (BD) is a chronic inflammatory autoimmune disease. Although raised levels of proinflammatory cytokines in BD have been reported, the pathogenesis is still unknown. The aim of this study was to investigate the association of NFKB1 and NFKBIA polymorphisms and their single and combined analysis effects on susceptibility of BD in Turkish population. We analysed the distribution of NFKB1 -94 ins/del ATTG (rs28362491) and NFKBIA 3 0 UTR A?G (rs696) polymorphisms using PCR-RFLP method in 89 patients with BD and 190 controls in this population. Statistical analysis of the results was performed by calculating OR, and 95% CI via v 2 test and using Bonferroni correction. According to the significant results of both single and combined genotype analysis, the frequencies of ins/ins genotype and ins allele of rs28362491 were significantly higher in patients with BD (Pc = 0.003, 0.004, respectively). Also, higher frequencies of the rs696 variant containing AA genotype was found in patients with BD (Pc = 0.0033), whereas no statistical significant differences in distribution of the alleles of rs696 polymorphism in patients and controls. In addition, according to the combined genotype analysis, the wild type of both rs28362491 and rs696 polymorphisms (ins/ins/AA genotype) was also significantly higher in BD cases (Pc = 0.044). Our findings prove that both single and combined genotype analysis of rs28362491 and rs696 polymorphisms indicate that the wild genotypes of both two SNPs (ins/ins and AA genotypes) and ins/ins/AA combined genotype are strongly associated with enhanced risk of BD in a Turkish population.

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“…The functional polymorphism in the promoter region of NFKB1 gene is a four base ATTG insertion/deletion variant (-94ins/del ATTG, rs28362491), encodes three differential genotypes: wild-type homozygous insertion (ins/ins), variant homozygous deletion (del/del) and heterozygous (ins/del). The NFKB1-94ins/del ATTG polymorphism produces lower protein levels of p50, having been reported to correlate with many inflammatory diseases such as Grave’s disease, ulcerative colitis, and systemic lupus erythematosus [11–13]. …”

Section: Introductionmentioning

confidence: 99%

Genetic Variation in NFKB1 and NFKBIA and Susceptibility to Coronary Artery Disease in a Chinese Uygur Population

Lai

Yang

et al. 2015

PLoS ONE

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ObjectivesCoronary artery disease (CAD) is the most common chronic inflammatory disease worldwide. NF-κB, a central regulator of inflammation, is involved in various inflammatory diseases. The aim of this study was to investigate the association between NFKB1 and NFKBIA polymorphisms and the susceptibility to CAD and their impact on plasma levels of IL-6 in a Chinese Uygur population.MethodsWe genotyped NFKB1-94ins/del ATTG (rs28362491) and NFKBIA3’ UTR A/G (rs696) using TaqMan SNP genotyping assays in 960 Uygur CAD cases and Uygur 1060 CAD-negtive controls. IL-6 plasma levels were measured in 360 stable angina pectoris (SAP) cases and 360 controls using ELISA method.ResultsThere was no significant difference in the distribution of the genotypes and alleles of rs696 polymorphism in CAD cases and controls. Significant difference in the frequency of genotypes (P = 0.001) and alleles (P = 0.001) of rs28362491 polymorphism was observed in CAD cases compared to controls. In multivariate logistic regression analysis, SNP rs28362491 was consistently associated with CAD risk in a recessive model after adjustment for cardiovascular risk factors (OR = 1.581, 95% CI 1.222 to 2.046, P<0.001). SAP cases had significantly higher plasma levels of IL-6 compared to controls (P<0.001). General linear model analysis showed rs28362491 was independently associated with increased IL-6 levels by analyses of a recessive model (P<0.001) after adjustment for covariates.ConclusionsOur study indicates that NFKB1-94 ins/del ATTG polymorphism may play a role in CAD susceptibility in Chinese Uygur population and is functionally associated with IL-6 expression, suggesting a mechanistic link between NFKB1-94 ins/del ATTG polymorphism and CAD susceptibility.

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

Cited by 41 publications

References 35 publications

Functional promoter polymorphisms of NFKB1 influence susceptibility to the diffuse type of gastric cancer

Functional promoter polymorphisms of NFKB1 influence susceptibility to the diffuse type of gastric cancer

Association of NFKB1 and NFKBIA Polymorphisms in Relation to Susceptibility of Behçet's Disease

Genetic Variation in NFKB1 and NFKBIA and Susceptibility to Coronary Artery Disease in a Chinese Uygur Population

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