Remuzgo-Martínez Sara, Genre Fernanda, Pulito-Cueto Verónica, Atienza-Mateo Belén, Mora Cuesta Víctor Manuel, Iturbe Fernández David, Fernández Rozas Sonia María, Lera-Gómez Leticia, Alonso Lecue Pilar, Ussetti María Piedad, Laporta Rosalía, Berastegui Cristina, Solé Amparo, Pérez Virginia, De Pablo Gafas Alicia, Gualillo Oreste, Cifrián José Manuel, López-Mejías Raquel, González-Gay Miguel Ángel
Genetic epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain.
López Albo' Post-Residency Programme, Hospital Universitario Marqués de Valdecilla, 39008 Santander, Spain.
Biomedicines. 2021 Apr 22;9(5):458. doi: 10.3390/biomedicines9050458.
The search for biomarkers that can help to establish an early diagnosis and prognosis of interstitial lung disease (ILD) is of potential interest. polymorphisms have been implicated in the development of several lung disorders. Consequently, we assessed, for the first time, the role of polymorphisms in the susceptibility and severity of ILD. A total of 436 Caucasian ILD patients (244 with idiopathic interstitial pneumonias (IIPs) and 192 with non-IIP) and 536 ethnically-matched healthy controls were genotyped for rs833061, rs1570360, rs2010963, rs3025020, and rs3025039 polymorphisms by TaqMan assays. Pulmonary function tests were collected from all the patients. VEGF serum levels were determined by ELISA in a subgroup of patients. No genotype, allele, carrier, or haplotype differences were found between ILD patients and controls as well as between IIP and non-IIP patients. However, an association of rs1570360 with IIP in women and also with lung function in IIP patients was found. None of the polymorphisms were associated with VEGF levels. In conclusion, our results suggest that does not seem to play a relevant role in ILD, although rs1570360 may influence the severity of ILD in women and a worse outcome in IIP patients.
寻找有助于间质性肺病(ILD)早期诊断和预后评估的生物标志物具有潜在意义。多态性与多种肺部疾病的发生有关。因此,我们首次评估了多态性在ILD易感性和严重程度中的作用。通过TaqMan分析对436名白种人ILD患者(244例特发性间质性肺炎(IIP)患者和192例非IIP患者)以及536名种族匹配的健康对照者进行了rs833061、rs1570360、rs2010963、rs3025020和rs3025039多态性的基因分型。收集了所有患者的肺功能测试数据。在部分患者亚组中通过ELISA测定了VEGF血清水平。在ILD患者与对照者之间以及IIP患者与非IIP患者之间,未发现基因型、等位基因、携带者或单倍型差异。然而,发现rs1570360与女性IIP以及IIP患者的肺功能有关。所有多态性均与VEGF水平无关。总之,我们的结果表明,尽管rs1570360可能影响女性ILD的严重程度以及IIP患者的不良预后,但似乎在ILD中并不起相关作用。