Cargando…

The Impacts of the Clinical and Genetic Factors on Chronic Damage in Caucasian Systemic Lupus Erythematosus Patients

Objective: The purpose of this study was to determine the distribution of organ damage in a cohort of systemic lupus erythematosus (SLE) patients and to evaluate the roles of clinical and genetic factors in determining the development of chronic damage. Methods: Organ damage was assessed by the SLIC...

Descripción completa

Detalles Bibliográficos
Autores principales: Ceccarelli, Fulvia, Olivieri, Giulio, Pirone, Carmelo, Ciccacci, Cinzia, Picciariello, Licia, Natalucci, Francesco, Perricone, Carlo, Spinelli, Francesca Romana, Alessandri, Cristiano, Borgiani, Paola, Conti, Fabrizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9225252/
https://www.ncbi.nlm.nih.gov/pubmed/35743441
http://dx.doi.org/10.3390/jcm11123368
_version_ 1784733573950996480
author Ceccarelli, Fulvia
Olivieri, Giulio
Pirone, Carmelo
Ciccacci, Cinzia
Picciariello, Licia
Natalucci, Francesco
Perricone, Carlo
Spinelli, Francesca Romana
Alessandri, Cristiano
Borgiani, Paola
Conti, Fabrizio
author_facet Ceccarelli, Fulvia
Olivieri, Giulio
Pirone, Carmelo
Ciccacci, Cinzia
Picciariello, Licia
Natalucci, Francesco
Perricone, Carlo
Spinelli, Francesca Romana
Alessandri, Cristiano
Borgiani, Paola
Conti, Fabrizio
author_sort Ceccarelli, Fulvia
collection PubMed
description Objective: The purpose of this study was to determine the distribution of organ damage in a cohort of systemic lupus erythematosus (SLE) patients and to evaluate the roles of clinical and genetic factors in determining the development of chronic damage. Methods: Organ damage was assessed by the SLICC Damage Index (SDI). We analyzed a panel of 17 single-nucleotide polymorphism (SNPs) of genes already associated with SLE, and we performed a phenotype–genotype correlation analysis by evaluating specific domains of the SDI. Results: Among 175 Caucasian SLE patients, 105 (60%) exhibited damage (SDI ≥1), with a median value of 1.0 (IQR 3.0). The musculoskeletal (26.2%), neuropsychiatric (24.6%) and ocular domains (20.6%) were involved most frequently. The presence of damage was associated with higher age, longer disease duration, neuropsychiatric (NP) manifestations, anti-phospholipid syndrome and the positivity of anti-dsDNA. Concerning therapies, cyclophosphamide, mycophenolate mofetil and glucocorticoids were associated with the development of damage. The genotype–phenotype correlation analysis showed an association between renal damage, identified in 6.9% of patients, and rs2205960 of TNFSF4 (p = 0.001; OR 17.0). This SNP was significantly associated with end-stage renal disease (p = 0.018, OR 9.68) and estimated GFR < 50% (p = 0.025, OR 1.06). The rs1463335 of MIR1279 gene was associated with the development of NP damage (p = 0.029; OR 2.783). The multivariate logistic regression analysis confirmed the associations between TNFSF4 rs2205960 SNP and renal damage (p = 0.027, B = 2.47) and between NP damage and rs1463335 of MIR1279 gene (p = 0.014, B = 1.29). Conclusions: Our study could provide new insights into the role of genetic background in the development of renal and NP damage.
format Online
Article
Text
id pubmed-9225252
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-92252522022-06-24 The Impacts of the Clinical and Genetic Factors on Chronic Damage in Caucasian Systemic Lupus Erythematosus Patients Ceccarelli, Fulvia Olivieri, Giulio Pirone, Carmelo Ciccacci, Cinzia Picciariello, Licia Natalucci, Francesco Perricone, Carlo Spinelli, Francesca Romana Alessandri, Cristiano Borgiani, Paola Conti, Fabrizio J Clin Med Article Objective: The purpose of this study was to determine the distribution of organ damage in a cohort of systemic lupus erythematosus (SLE) patients and to evaluate the roles of clinical and genetic factors in determining the development of chronic damage. Methods: Organ damage was assessed by the SLICC Damage Index (SDI). We analyzed a panel of 17 single-nucleotide polymorphism (SNPs) of genes already associated with SLE, and we performed a phenotype–genotype correlation analysis by evaluating specific domains of the SDI. Results: Among 175 Caucasian SLE patients, 105 (60%) exhibited damage (SDI ≥1), with a median value of 1.0 (IQR 3.0). The musculoskeletal (26.2%), neuropsychiatric (24.6%) and ocular domains (20.6%) were involved most frequently. The presence of damage was associated with higher age, longer disease duration, neuropsychiatric (NP) manifestations, anti-phospholipid syndrome and the positivity of anti-dsDNA. Concerning therapies, cyclophosphamide, mycophenolate mofetil and glucocorticoids were associated with the development of damage. The genotype–phenotype correlation analysis showed an association between renal damage, identified in 6.9% of patients, and rs2205960 of TNFSF4 (p = 0.001; OR 17.0). This SNP was significantly associated with end-stage renal disease (p = 0.018, OR 9.68) and estimated GFR < 50% (p = 0.025, OR 1.06). The rs1463335 of MIR1279 gene was associated with the development of NP damage (p = 0.029; OR 2.783). The multivariate logistic regression analysis confirmed the associations between TNFSF4 rs2205960 SNP and renal damage (p = 0.027, B = 2.47) and between NP damage and rs1463335 of MIR1279 gene (p = 0.014, B = 1.29). Conclusions: Our study could provide new insights into the role of genetic background in the development of renal and NP damage. MDPI 2022-06-12 /pmc/articles/PMC9225252/ /pubmed/35743441 http://dx.doi.org/10.3390/jcm11123368 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Ceccarelli, Fulvia
Olivieri, Giulio
Pirone, Carmelo
Ciccacci, Cinzia
Picciariello, Licia
Natalucci, Francesco
Perricone, Carlo
Spinelli, Francesca Romana
Alessandri, Cristiano
Borgiani, Paola
Conti, Fabrizio
The Impacts of the Clinical and Genetic Factors on Chronic Damage in Caucasian Systemic Lupus Erythematosus Patients
title The Impacts of the Clinical and Genetic Factors on Chronic Damage in Caucasian Systemic Lupus Erythematosus Patients
title_full The Impacts of the Clinical and Genetic Factors on Chronic Damage in Caucasian Systemic Lupus Erythematosus Patients
title_fullStr The Impacts of the Clinical and Genetic Factors on Chronic Damage in Caucasian Systemic Lupus Erythematosus Patients
title_full_unstemmed The Impacts of the Clinical and Genetic Factors on Chronic Damage in Caucasian Systemic Lupus Erythematosus Patients
title_short The Impacts of the Clinical and Genetic Factors on Chronic Damage in Caucasian Systemic Lupus Erythematosus Patients
title_sort impacts of the clinical and genetic factors on chronic damage in caucasian systemic lupus erythematosus patients
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9225252/
https://www.ncbi.nlm.nih.gov/pubmed/35743441
http://dx.doi.org/10.3390/jcm11123368
work_keys_str_mv AT ceccarellifulvia theimpactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT olivierigiulio theimpactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT pironecarmelo theimpactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT ciccaccicinzia theimpactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT picciariellolicia theimpactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT nataluccifrancesco theimpactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT perriconecarlo theimpactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT spinellifrancescaromana theimpactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT alessandricristiano theimpactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT borgianipaola theimpactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT contifabrizio theimpactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT ceccarellifulvia impactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT olivierigiulio impactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT pironecarmelo impactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT ciccaccicinzia impactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT picciariellolicia impactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT nataluccifrancesco impactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT perriconecarlo impactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT spinellifrancescaromana impactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT alessandricristiano impactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT borgianipaola impactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients
AT contifabrizio impactsoftheclinicalandgeneticfactorsonchronicdamageincaucasiansystemiclupuserythematosuspatients