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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
ORCID logo ,
Jorge Rojas-Serrano
,
Gloria Pérez-Rubio
ORCID logo ,
Ivette Buendia-Roldan
ORCID logo ,
Mayra Mejía
,
Juan Carlos Fernández-López
ORCID logo ,
Espiridión Ramos-Martínez
ORCID logo ,
Luis A. López-Flores
ORCID logo ,
Alma D. Del Ángel-Pablo
ORCID logo ,
Ramcés Falfán-Valencia
* ORCID logo
Version 1 : Received: 25 September 2023 / Approved: 26 September 2023 / Online: 27 September 2023 (05:56:40 CEST)

A peer-reviewed article of this Preprint also exists.

Nava-Quiroz, K.J.; Rojas-Serrano, J.; Pérez-Rubio, G.; Buendia-Roldan, I.; Mejía, M.; Fernández-López, J.C.; Ramos-Martínez, E.; López-Flores, L.A.; Del Ángel-Pablo, A.D.; Falfán-Valencia, R. Single-Nucleotide Variants in PADI2 and PADI4 and Ancestry Informative Markers in Interstitial Lung Disease and Rheumatoid Arthritis among a Mexican Mestizo Population. Data 2024, 9, 5. Nava-Quiroz, K.J.; Rojas-Serrano, J.; Pérez-Rubio, G.; Buendia-Roldan, I.; Mejía, M.; Fernández-López, J.C.; Ramos-Martínez, E.; López-Flores, L.A.; Del Ángel-Pablo, A.D.; Falfán-Valencia, R. Single-Nucleotide Variants in PADI2 and PADI4 and Ancestry Informative Markers in Interstitial Lung Disease and Rheumatoid Arthritis among a Mexican Mestizo Population. Data 2024, 9, 5.

Abstract

Rheumatoid arthritis (RA) is an autoimmune disease mainly characterized by joint inflammation. It presents extra-articular manifestations, with the lungs 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 rheumatoid arthritis, RA-associated ILD, and clinically healthy controls. Significant single nucleotide variations (SNV) and a haplotype were identified as susceptibility factors for ILD-RA development. Elevated levels of PAD4 were found in ILD-RA cases, while PADI2 showed an association with RA susceptibility. This document presents the data obtained from the conducted research, which has been published.

Keywords

PAD4/PADI4; PAD2/PADI2; Interstitial Lung Disease; Rheumatoid Arthritis; RA-ILD, AIM

Subject

Biology and Life Sciences, Biochemistry and Molecular Biology

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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