TLR7 single-nucleotide polymorphisms in the 3' untranslated region and intron 2 independently contribute to systemic lupus erythematosus in Japanese women: a case-control association study
スポンサーリンク
概要
- 論文の詳細を見る
IntroductionThe Toll-like receptor 7 (TLR7) gene, encoded on human chromosome Xp22.3, is crucial for type I interferon production. A recent multicenter study in East Asian populations, comprising Chinese, Korean and Japanese participants, identified an association of a TLR7 single-nucleotide polymorphism (SNP) located in the 3' untranslated region (3' UTR), rs3853839, with systemic lupus erythematosus (SLE), especially in males, although some difference was observed among the tested populations. To test whether additional polymorphisms contribute to SLE in Japanese, we systematically analyzed the association of TLR7 with SLE in a Japanese female population.MethodsA case-control association study was conducted on eight tag SNPs in the TLR7 region, including rs3853839, in 344 Japanese females with SLE and 274 healthy female controls.ResultsIn addition to rs3853839, two SNPs in intron 2, rs179019 and rs179010, which were in moderate linkage disequilibrium with each other (r2 = 0.53), showed an association with SLE (rs179019: P = 0.016, odds ratio (OR) 2.02, 95% confidence interval (95% CI) 1.15 to 3.54; rs179010: P = 0.018, OR 1.75, 95% CI 1.10 to 2.80 (both under the recessive model)). Conditional logistic regression analysis revealed that the association of the intronic SNPs and the 3' UTR SNP remained significant after we adjusted them for each other. When only the patients and controls carrying the risk genotypes at the 3' UTR SNPpositionwere analyzed, the risk of SLE was significantly increased when the individuals also carried the risk genotypes at both of the intronic SNPs (P = 0.0043, OR 2.45, 95% CI 1.31 to 4.60). Furthermore, the haplotype containing the intronic risk alleles in addition to the 3' UTR risk allele was associated with SLE under the recessive model (P = 0.016, OR 2.37, 95% CI 1.17 to 4.80), but other haplotypes were not associated with SLE.ConclusionsThe TLR7 intronic SNPs rs179019 and rs179010 are associated with SLE independently of the 3' UTR SNP rs3853839 in Japanese women. Our findings support a role of TLR7 in predisposition for SLE in Asian populations.
論文 | ランダム
- 山田尚(小田急百貨店社長) "プロの血"の導入で、独自のブランディング戦略を構築する (特集 百貨店業界から見た個人消費の行方)
- 商品の説明よりも個人としてのブランディングこそ顧客開発の要--菊池雅彦 プレデンシャル生命保険首都圏第五支社第五営業所シニア・コンサルティング・ライフプランナー副部長 (特集 顧客開発力--新規顧客獲得成功のための科学的アプローチ) -- (PHASE1 新規開拓の神様たち--企業が誇る新規開拓専門チームの戦いを紹介--企業内No.1の新規顧客実績を持つ営業マネジャーへのインタビュー)
- 挑戦する経営者(第62回)誰もが持つ,輝く「プラチナの個性」をブランディングしていく経営者 株式会社 プラチナ ブランディング エーシー ジャパン 代表取締役社長 三崎千鶴子さん
- 「長期的なブランディング」を目指したメッセージツールは「バーコード」--デザインバーコード(サントリー「アミノ式」「カテキン式」) (特集 優れたプロダクトには個々の「真実」がある 「主張する」するテザイン)
- グループブランディングと上場ブランディング 企業の個別目的を実現するブランドマネジメント (特集 企業価値高めるブランド戦略)