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Vol.58 (2012) >

Please use this identifier to cite or link to this item: http://ir.fmu.ac.jp/dspace/handle/123456789/340

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Title: Association of the toll-like receptor 9 gene polymorphisms with behcet's disease in a Japanese population
Other Titles: TLR9 gene polymorphisms in Behcet's disease
Authors: Sakamoto, Natsumi
Sekine, Hideharu
Kobayashi, Hiroko
Sato, Yukio
Ohira, Hiromasa
Affiliation: 消化器・リウマチ膠原病内科学講座
免疫学講座
Source title: Fukushima Journal of Medical Science
Volume: 58
Issue: 2
Start page: 127
End page: 135
Issue Date: 2012
Abstract: Bacterial infection (i.e., Streptococcus sanguinis) has been suggested to be related to pathogenesis and/or symptom of Behcet's disease (BD). Toll-like receptor 9 (TLR9) plays an important role in both the innate and adaptive immune systems by recognizing a component of bacterial DNA (i.e., CpG-DNA). Previous studies have demonstrated that single nucleotide polymorphisms (SNPs) in TLR9 were associated with infectious and autoimmune/autoinflammatory diseases. In this study, we detected five SNPs with BD patients in a Japanese population. Allele frequency analysis of the three common SNPs (-1486: T/C (promoter region), 1174: A/G (intron 1), 2848: G/A (exon 2; Pro545Pro)) showed no statistically significant difference between the BD patients and the healthy controls. However, genotyping analysis revealed that the homozygous genotypes -1486CC and 1174GG were significantly more frequent in the BD patients compared to the healthy controls (P=0.048 and P=0.027, respectively). The homozygous diplotype distribution C-G-A/C-G-A was significantly more frequent in the BD patients compared to the healthy controls (P=0.041). For reporter gene assay, the plasmid construct carrying diplotype distribution C-G/C-G of the -1486T/C and 1174A/G SNPs showed significantly higher luciferase activity compared to the plasmid construct carrying diplotype distribution T-A/T-A (P=0.019). These results suggested an association of the homozygous genotypes and homozygous diplotype configuration of the TLR9 SNPs with susceptibility to BD in the Japanese population.
Publisher: The Fukushima Society of Medical Science
Publisher (Alternative foam): 福島医学会
language: eng
URI: http://ir.fmu.ac.jp/dspace/handle/123456789/340
Full text URL: http://ir.fmu.ac.jp/dspace/bitstream/123456789/340/1/FksmJMedSci_58_p127.pdf
ISSN: 0016-2590
2185-4610
DOI: 10.5387/fms.58.127
PubMed ID: 23237868
Other version: http://dx.doi.org/10.5387/fms.58.127
Rights: © 2012 The Fukushima Society of Medical Science
Appears in Collections:Vol.58 (2012)

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