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rs35705950启动子变异与抗合成酶综合征患者的寻常型间质性肺炎相关。

rs35705950 Promoter Variant Is Associated with Usual Interstitial Pneumonia in Patients with Antisynthetase Syndrome.

作者信息

Rivero-Gallegos Daphne, Mejía Mayra, Nava-Quiroz Karol J, Ramos-Martínez Espiridión, Mateos-Toledo Heidegger N, Rocha-González Héctor Isaac, Huerta-Cruz Juan Carlos, Pérez-Rubio Gloria, Fricke-Galindo Ingrid, Rojas-Serrano Jorge, Falfán-Valencia Ramcés

机构信息

Interstitial Lung Disease and Rheumatology Unit, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City 14080, Mexico.

Sección de Estudios de Posgrado e Investigación, Escuela Superior de Medicina, Instituto Politécnico Nacional, Mexico City 07700, Mexico.

出版信息

J Clin Med. 2024 Oct 16;13(20):6159. doi: 10.3390/jcm13206159.

Abstract

: The presence of the rs35705950 variant in the gene promoter is a critical genetic risk factor in idiopathic pulmonary fibrosis (IPF). It has been associated with usual interstitial pneumonia (UIP) in several interstitial lung diseases (ILDs). In antisynthetase syndrome (ASSD), most high-resolution computed tomography (HRCT) patterns are inflammatory, but up to 13% have UIP, leading to a worse prognosis. : This single-center study included 60 patients with ASSD-ILD. We investigated whether carrying the rs35705950 promoter variant was associated with UIP. To estimate the strength of the association between the genotype of the rs35705950 promoter variant and the fibrotic pattern we used the odds ratio (cOR), and to assess the effect of confounding variables (age, evolution time, and sex), we performed a logistic regression to obtained the adjusted odds ratio (aOR). : The GT genotype of the rs35705950 promoter variant is associated with up to a 4-fold increased risk of UIP (cOR 5.0, 95% CI 1.13-22.10), and the effect was even maintained after adjusting for potentially confounding variables such as sex, age, and time to progression (aOR 5.2, 95% CI 1.04-25.89). : our study supports the role of rs35705950 in ASSD-ILD with UIP. It reinforces that this polymorphism in our population could have a similar genetic basis to that already described in other ILDs that present predominantly fibrotic patterns.

摘要

基因启动子中rs35705950变体的存在是特发性肺纤维化(IPF)的关键遗传风险因素。它与几种间质性肺病(ILDs)中的普通间质性肺炎(UIP)有关。在抗合成酶综合征(ASSD)中,大多数高分辨率计算机断层扫描(HRCT)模式为炎症性,但高达13%的患者有UIP,导致预后更差。:这项单中心研究纳入了60例ASSD-ILD患者。我们调查了携带rs35705950启动子变体是否与UIP相关。为了估计rs35705950启动子变体的基因型与纤维化模式之间关联的强度,我们使用了比值比(cOR),为了评估混杂变量(年龄、病程和性别)的影响,我们进行了逻辑回归以获得调整后的比值比(aOR)。:rs35705950启动子变体的GT基因型与UIP风险增加高达4倍相关(cOR 5.0,95%CI 1.13-22.10),在调整了性别、年龄和进展时间等潜在混杂变量后,这种效应仍然存在(aOR 5.2,95%CI 1.04-25.89)。:我们的研究支持rs35705950在伴有UIP的ASSD-ILD中的作用。它强化了我们人群中的这种多态性可能与其他主要表现为纤维化模式的ILDs中已描述的遗传基础相似。

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