Single-Nucleotide Variants in PADI2 and PADI4 and Ancestry Informative Markers in Interstitial Lung Disease and Rheumatoid Arthritis among a Mexican Mestizo Population

Data Pub Date : 2023-12-25 DOI:10.3390/data9010005
Karol J. Nava-Quiroz, J. Rojas-Serrano, G. Pérez-Rubio, I. Buendía-Roldán, M. Mejía, J. Fernández-López, E. Ramos-Martínez, L. A. López-Flores, Alma D. Del Ángel-Pablo, R. Falfán-Valencia
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Abstract

Rheumatoid arthritis (RA) is an autoimmune disease mainly characterized by joint inflammation. It presents extra-articular manifestations, with the lungs being one of the affected areas. Among these, damage to the pulmonary interstitium (Interstitial Lung Disease—ILD) has been linked to proteins involved in the inflammatory process and related to extracellular matrix deposition and lung fibrosis establishment. Peptidyl arginine deiminase enzymes (PAD), which carry out protein citrullination, play a role in this context. A genetic association analysis was conducted on genes encoding two PAD isoforms: PAD2 and PAD4. This analysis also included ancestry informative markers and protein level determination in samples from patients with RA, RA-associated ILD, and clinically healthy controls. Significant single nucleotide variants (SNV) and one haplotype were identified as susceptibility factors for RA-ILD development. Elevated levels of PAD4 were found in RA-ILD cases, while PADI2 showed an association with RA susceptibility. This work presents data obtained from previously published research. Population variability has been noticed in genetic association studies. We present data for 14 SNVs that show geographical and genetic variation across the Mexican population, which provides highly informative content and greater intrapopulation genetic diversity. Further investigations in the field should be considered in addition to AIMs. The data presented in this study were analyzed in association with SNV genotypes in PADI2 and PADI4 to assess susceptibility to ILD in RA, as well as with changes in PAD2 and PAD4 protein levels according to carrier genotype, in addition to the use of covariates such as ancestry markers.
墨西哥混血人口中 PADI2 和 PADI4 的单核苷酸变异以及间质性肺病和类风湿关节炎的祖先信息标记物
类风湿性关节炎(RA)是一种以关节炎症为主要特征的自身免疫性疾病。它还会出现关节以外的表现,肺部是受影响的部位之一。其中,肺间质的损伤(间质性肺病-ILD)与参与炎症过程的蛋白质有关,并与细胞外基质沉积和肺纤维化的形成有关。进行蛋白质瓜氨酸化的肽基精氨酸脱氨酶(PAD)在其中发挥了作用。对编码两种 PAD 异构体的基因进行了遗传关联分析:PAD2 和 PAD4。该分析还包括祖先信息标记以及对RA患者、RA相关ILD患者和临床健康对照组样本的蛋白质水平测定。结果发现,重要的单核苷酸变异(SNV)和一种单倍型是导致 RA-ILD 发生的易感因素。在 RA-ILD 病例中发现 PAD4 水平升高,而 PADI2 则与 RA 易感性有关。这项工作展示了从以前发表的研究中获得的数据。遗传关联研究中已经注意到了人群的变异性。我们展示了 14 个 SNV 的数据,这些数据显示了墨西哥人群的地理和遗传变异,提供了高度信息内容和更大的人群内遗传多样性。除 AIMs 外,还应考虑在该领域开展进一步调查。除了使用祖先标记等协变量外,本研究中提供的数据还与 PADI2 和 PADI4 的 SNV 基因型进行了关联分析,以评估 RA 中 ILD 的易感性,以及根据携带者基因型 PAD2 和 PAD4 蛋白水平的变化。
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