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

Karol J. Nava-Quiroz, Jorge Rojas-Serrano, Gloria Pérez-Rubio, Ivette Buendia-Roldan, Mayra Mejía, Juan Carlos Fernández-López, Espiridión Ramos-Martínez, Luis A. López-Flores, Alma D. Del Ángel-Pablo and Ramcés Falfán-Valencia ()
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Karol J. Nava-Quiroz: HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Tlalpan, Mexico City 14080, Mexico
Jorge Rojas-Serrano: Rheumatology Clinic, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Tlalpan, Mexico City 14080, Mexico
Gloria Pérez-Rubio: HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Tlalpan, Mexico City 14080, Mexico
Ivette Buendia-Roldan: Translational Research Laboratory on Aging and Pulmonary Fibrosis, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Tlalpan, Mexico City 14080, Mexico
Mayra Mejía: Diffuse Interstitial Lung Disease Clinic, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Tlalpan, Mexico City 14080, Mexico
Juan Carlos Fernández-López: Consorcio de Genómica Computacional, Instituto Nacional de Medicina Genómica (INMEGEN), Tlalpan, Mexico City 14610, Mexico
Espiridión Ramos-Martínez: Experimental Medicine Research Unit, Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico City 06720, Mexico
Luis A. López-Flores: HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Tlalpan, Mexico City 14080, Mexico
Alma D. Del Ángel-Pablo: HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Tlalpan, Mexico City 14080, Mexico
Ramcés Falfán-Valencia: HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Tlalpan, Mexico City 14080, Mexico

Data, 2023, vol. 9, issue 1, 1-9

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.

Keywords: PAD4/ PADI4; PAD2/ PADI2; interstitial lung disease; rheumatoid arthritis; RA-ILD; AIM (search for similar items in EconPapers)
JEL-codes: C8 C80 C81 C82 C83 (search for similar items in EconPapers)
Date: 2023
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