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Exploring the contribution of genetics on the clinical manifestations of systemic lupus erythematosus

Ruth D. Rodríguez, Marta E. Alarcón‐Riquelme

2024Best Practice & Research Clinical Rheumatology11 citationsDOIOpen Access PDF

Abstract

Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by diverse clinical manifestations affecting multiple organs and systems. The understanding of genetic factors underlying the various manifestations of SLE has evolved considerably in recent years. This review provides an overview of the genetic implications in some of the most prevalent manifestations of SLE, including renal involvement, neuropsychiatric, cutaneous, constitutional, musculoskeletal, and cardiovascular manifestations. We discuss the current state of knowledge regarding the genetic basis of these manifestations, highlighting key genetic variants and pathways implicated in their pathogenesis. Additionally, we explore the clinical implications of genetic findings, including their potential role in risk stratification, prognosis, and personalized treatment approaches for patients with SLE. Through a comprehensive examination of the genetic landscape of SLE manifestations, this review aims to provide insights into the underlying mechanisms driving disease heterogeneity and inform future research directions in this field.

Topics & Concepts

MedicineDiseaseSystemic lupus erythematosusGenome-wide association studyRisk stratificationLupus erythematosusImmunologyBioinformaticsSingle-nucleotide polymorphismGeneticsPathologyGeneGenotypeBiologyAntibodyCardiologySystemic Lupus Erythematosus ResearchT-cell and B-cell ImmunologyMonoclonal and Polyclonal Antibodies Research