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整合素αV(ITGAV)基因的rs3768777-G等位基因与类风湿关节炎相关。

The rs3768777-G allele of ITGAV gene is associated with rheumatoid arthritis.

作者信息

Koca Suleyman Serdar, Kara Murat, Ozgen Metin, Dagli Mustafa Necati, Gozel Nevzat, Yolbas Servet, Gundogdu Baris, Kargun Kursat, Isik Ahmet

机构信息

Department of Rheumatology, Faculty of Medicine, Firat University, 23119, Elazig, Turkey,

出版信息

Rheumatol Int. 2014 May;34(5):693-8. doi: 10.1007/s00296-013-2925-7. Epub 2013 Dec 28.

Abstract

Integrin αvβ3 (vitronectin receptor) plays a prominent role in angiogenesis, a key pathogenic feature of rheumatoid arthritis (RA). Moreover, integrin αV (ITGAV) subunit gene has been associated with a susceptibility to RA. The aim of the present study was to detect the potential association between ITGAV gene polymorphisms and a susceptibility to RA in a Turkish cohort. DNA samples were harvested from 160 patients with RA and 144 healthy controls (HC). Three single-nucleotide polymorphisms of ITGAV gene (rs3738919, rs3768777, and rs10174098) were genotyped using real-time PCR. Serum vitronectin levels were analyzed in 30 RA patients, 28 Behçet's disease (BD) patients, and 30 HC subjects. There was no significant difference between the RA and HC groups in terms of the genotypic and allelic distributions of rs3738919 and rs10174098 polymorphisms. However, the prevalence of rs3768777-G allele was higher in the RA group than in the HC group (OR 2.3, 95 % CI 1.6-3.2, p < 0.0001). Moreover, there was a significant association between RA and the genotypic distribution of rs3768777 (GG + AG vs. AA: OR 2.1, 95 % CI 1.3-3.4; GG vs. AG + AA: OR 4.1, 95 % CI 2.1-7.8). Serum vitronectin levels were lower in the RA and BD groups than in the HC group (p ANOVA = 0.002). The rs3738919 and rs10174098 polymorphisms of the ITGAV gene seem not to be associated with susceptibility to RA in Turkish patients. However, rs3768777 increases the risk of RA in this group. These results suggest that the ITGAV gene may be a candidate gene for the etiopathogenesis of RA.

摘要

整合素αvβ3(玻连蛋白受体)在血管生成中起重要作用,而血管生成是类风湿关节炎(RA)的一个关键致病特征。此外,整合素αV(ITGAV)亚基基因与RA易感性相关。本研究的目的是检测土耳其人群中ITGAV基因多态性与RA易感性之间的潜在关联。从160例RA患者和144例健康对照(HC)中采集DNA样本。使用实时PCR对ITGAV基因的三个单核苷酸多态性(rs3738919、rs3768777和rs10174098)进行基因分型。对30例RA患者、28例白塞病(BD)患者和30例HC受试者的血清玻连蛋白水平进行分析。rs3738919和rs10174098多态性的基因型和等位基因分布在RA组和HC组之间无显著差异。然而,RA组中rs3768777 - G等位基因的患病率高于HC组(比值比2.3,95%置信区间1.6 - 3.2,p < 0.0001)。此外,RA与rs3768777的基因型分布之间存在显著关联(GG + AG与AA:比值比2.1,95%置信区间1.3 - 3.4;GG与AG + AA:比值比4.1,95%置信区间2.1 - 7.8)。RA组和BD组的血清玻连蛋白水平低于HC组(p方差分析 = 0.002)。ITGAV基因的rs3738919和rs10174098多态性似乎与土耳其患者的RA易感性无关。然而,rs3768777增加了该组中RA的风险。这些结果表明,ITGAV基因可能是RA发病机制的候选基因。

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