Associations between interferon regulatory factor–1 polymorphisms and Behçet’s disease

Lee, Yun Jong; Kang, Seong Wook; Song, Ju Kyoung; Baek, Han Joo; Choi, Hyo Jin; Bae, Young Deok; Ryu, Hee Jung; Lee, Eun Young; Lee, Eun Bong; Song, Yeong Wook

doi:10.1016/j.humimm.2007.06.002

Cited by 23 publications

(9 citation statements)

References 41 publications

(53 reference statements)

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“…The positional effect has been associated with susceptibility to atopy [20]. Lee et al reported that rs2549007 and the haplotype formed by this SNP, and other adjacent SNPs, including rs2706384, rs2549009 and rs839, had a close relationship with Behcet’s disease [21]. Schedel et al reported that rs2070721, rs41525648 and rs2070729 was associated with hereditary allergies [20].…”

Section: Discussionmentioning

confidence: 99%

Tagging Single Nucleotide Polymorphisms in the IRF1 and IRF8 Genes and Tuberculosis Susceptibility

Ding

Jiang

et al. 2012

PLoS ONE

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Genes encoding IRF1 and IRF8 protein have been proposed as candidate tuberculosis susceptibility genes. In order to elucidate whether the IRF1 and IRF8 variants were associated with tuberculosis susceptibility, we conducted a case-control study consisting of 495 controls and 452 ethnically matched cases with tuberculosis in a Chinese population. Seven haplotype tagging single-nucleotide polymorphisms (tagSNPs) (rs2057656; rs2706381; rs2070724; rs2070721; rs2549008; rs2549007; rs2706386) from HapMap database were analyzed, which provided an almost complete coverage of the genetic variations in the IRF1 gene. Fifteen tagSNPs (rs12924316; rs182511; rs305080; rs2292980; rs925994; rs424971; rs16939967; rs11117415; rs4843860; rs9926411; rs8064189; rs12929551; rs10514611; rs1044873; rs6638) were observed in the IRF8 gene. All these tagSNPs were genotyped by SNPstream genotyping and SNaPshot typing. None of the seven tagSNPs was individually associated with tuberculosis in the IRF1 gene. In the IRF8 gene, interestingly, we found that three tagSNPs (rs925994 and rs11117415 located in the intron region; rs10514611 located in the 3′UTR) were associated with risk of tuberculosis after Bonferroni correction. Per allele OR was 1.75 (95% CI 1.35∼2.27, P = 0.002), 4.75 (95% CI 2.16∼10.43, P = 0.002) and 3.39 (95% CI 1.60∼7.20, P = 0.015) respectively. Luciferase reporter gene assay showed that the construct that contained the non-risk allele C of rs10514611 showed significantly higher luciferase activity than did the risk T allele (P<0.01), which implied rs10514611 was a potential functional SNP site. Our results indicated that the IRF8 gene might participate in genetic susceptibility to tuberculosis in a Chinese population.

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Section: Discussionmentioning

confidence: 99%

Tagging Single Nucleotide Polymorphisms in the IRF1 and IRF8 Genes and Tuberculosis Susceptibility

Ding

Jiang

et al. 2012

PLoS ONE

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“…Genetic association studies performed via genotyping single-nucleotide polymorphisms (SNPs) in candidate genes have been performed. These revealed genetic associations with several genes, including IRF1 (interferon regulatory factor 1) [ 6 ], TNF (tumor necrosis factor) [ 7 , 8 ], and PTPN22 (protein tyrosine phosphatase, non-receptor type 22) [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Identification of novel genetic susceptibility loci for Behçet's disease using a genome-wide association study

et al. 2009

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IntroductionBehçet's disease is a chronic systemic inflammatory disease that remains incompletely understood. Herein, we perform the first genome-wide association study in Behçet's disease.MethodsUsing DNA pooling technology and the Affymetrix 500K arrays, we identified possible candidate gene associations with Behçet's disease in a cohort of 152 Behçet's disease patients and 172 healthy ethnically matched controls. Genetic loci that were identified in the pooling study were genotyped in patients and controls using TaqMan genotyping technology.ResultsWe identified genetic associations between Behçet's disease and single-nucleotide polymorphisms (SNPs) in KIAA1529, CPVL, LOC100129342, UBASH3B, and UBAC2 (odds ratio = 2.04, 2.26, 1.84, 1.71, and 1.61, respectively; P value = 4.2 × 10-5, 1.0 × 10-4, 3.0 × 10-4, 1.5 × 10-3, and 5.8 × 10-3, respectively). Among the associated SNPs, the Behçet's disease-risk allele in rs2061634 leads to substitution of serine to cysteine at amino acid position 995 (S995C) in the KIAA1529 protein.ConclusionsUsing an unbiased whole-genome genetic association approach, we identified novel candidate genetic loci that are associated with increased susceptibility for Behçet's disease. These findings will help to better understand the pathogenesis of Behçet's disease and identify novel targets for therapeutic intervention.

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“…Recent studies have shown that CEACAM1 activates its target genes by acting as a substrate in the insulin receptor cascade (Najjar, 2002). IRF1 is a transcription factor that regulates the differentiation of leukocytes, such as macrophages and neutrophils, regulates the functions of type Ι and type ΙΙ interferons, and plays a role in host protection (Coccia et al, 2001;Lee et al, 2007). Considering the present results and those in previous reports, the enhanced insulin resistance induced by feeding rats a high-fat diet increased the expression of many cytokine/ chemokine-related genes and G-protein-coupled receptor/tyrosine receptor-related genes, particularly at 3 h after glucose administration.…”

Section: Discussionmentioning

confidence: 99%

Insulin resistance induced by a high-fat diet is associated with the induction of genes related to leukocyte activation in rat peripheral leukocytes

et al. 2010

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Associations between interferon regulatory factor–1 polymorphisms and Behçet’s disease

Cited by 23 publications

References 41 publications

Tagging Single Nucleotide Polymorphisms in the IRF1 and IRF8 Genes and Tuberculosis Susceptibility

Tagging Single Nucleotide Polymorphisms in the IRF1 and IRF8 Genes and Tuberculosis Susceptibility

Identification of novel genetic susceptibility loci for Behçet's disease using a genome-wide association study

Insulin resistance induced by a high-fat diet is associated with the induction of genes related to leukocyte activation in rat peripheral leukocytes

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