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Lack of association of two polymorphisms of IRF5 with Behcet's disease.

ABSTRACT: PURPOSE: Interferon regulation factor 5 (IRF5) is a member of the IRF family of transcription factors that control the transactivation of type I interferon system-related genes as well as the expression of several other genes involved in immune response. Here, we investigated its association with Behcet's disease (BD) in a well defined group of Chinese Han patients. METHODS: A total of 152 unrelated Chinese patients with BD and 149 healthy blood donors were genotyped for IRF5rs2280714 and rs752637 polymorphisms. Genomic DNA was isolated from peripheral blood mononuclear cells. Genotyping of each single nucleotide polymorphism (SNPs) was performed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Allele and genotype frequencies of IRF5rs2280714 and rs752637 polymorphisms were compared between patients and controls using a two-sided chi(2) test. RESULTS: The results showed no significant difference concerning the frequency of the allele of rs2280714 and rs752637 polymorphisms between BD patients and the normal controls (p=0.647 and p=0.105, respectively). The frequencies of the genotype of rs2280714 and rs752637 were not different between BD patients and the normal controls (p=0.233 and, p=0.266, respectively). Clinical manifestation stratification analysis did not show any association of IRF5 polymorphisms with BD patients (p>0.05). CONCLUSIONS: Our study revealed that the rs2280714 and rs752637 SNPs were not associated with the susceptibility to BD. There was no association between the two polymorphisms of IRF5 and any extraocular clinical manifestations in BD.

SUBMITTER: Li H

PROVIDER: S-EPMC2759328 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature

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Lack of association of two polymorphisms of IRF5 with Behcet's disease.

Li Haijun H Yang Peizeng P Jiang Zhengxuan Z Hou Shengping S Xie Lin L

Molecular vision 20091007

<h4>Purpose</h4>Interferon regulation factor 5 (IRF5) is a member of the IRF family of transcription factors that control the transactivation of type I interferon system-related genes as well as the expression of several other genes involved in immune response. Here, we investigated its association with Behcet's disease (BD) in a well defined group of Chinese Han patients.<h4>Methods</h4>A total of 152 unrelated Chinese patients with BD and 149 healthy blood donors were genotyped for IRF5rs22807 ...[more]

PMID: 19816589

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Project description:Background: In Behçet's disease (BD), an auto-inflammatory vasculitis, an unbalanced gut microbiota can contribute to pro-inflammatory reactions. In separate studies, distinct pro- and anti-inflammatory bacteria associated with BD have been identified. Methods: To establish disease-associated determinants, we performed gut microbiome profiling in BD patients from the Netherlands (n = 19) and Italy (n = 13), matched healthy controls (HC) from the Netherlands (n = 17) and Italy (n = 15) and oral microbiome profiling in Dutch BD patients (n = 18) and HC (n = 15) by 16S rRNA gene sequencing. In addition, we used fecal IgA-SEQ analysis to identify specific IgA coated bacterial taxa in Dutch BD patients (n = 13) and HC (n = 8). Results: In BD stool samples alpha-diversity was conserved, whereas beta-diversity analysis showed no clustering based on disease, but a significant segregation by country of origin. Yet, a significant decrease of unclassified Barnesiellaceae and Lachnospira genera was associated with BD patients compared to HC. Subdivided by country, the Italian cohort displays a significant decrease of unclassified Barnesiellaceae and Lachnospira genera, in the Dutch cohort this decrease is only a trend. Increased IgA-coating of Bifidobacterium spp., Dorea spp. and Ruminococcus bromii species was found in stool from BD patients. Moreover, oral Dutch BD microbiome displayed increased abundance of Spirochaetaceae and Dethiosulfovibrionaceae families. Conclusions: BD patients show decreased fecal abundance of Barnesiellaceae and Lachnospira and increased oral abundance of Spirochaetaceae and Dethiosulfovibrionaceae. In addition, increased fecal IgA coating of Bifidobacterium, Ruminococcus bromii and Dorea may reflect retention of anti-inflammatory species and neutralization of pathosymbionts in BD, respectively. Additional studies are warranted to relate intestinal microbes with the significance of ethnicity, diet, medication and response with distinct pro- and inflammatory pathways in BD patients.

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Lack of association of two polymorphisms of IRF5 with Behcet's disease.

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Lack of association of two polymorphisms of IRF5 with Behcet's disease.

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