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Insights into the genetic landscape of systemic sclerosis. 洞察系统性硬化症的基因状况。
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-07-26 DOI: 10.1016/j.berh.2024.101981
Ali El-Halwagi, Sandeep K Agarwal
{"title":"Insights into the genetic landscape of systemic sclerosis.","authors":"Ali El-Halwagi, Sandeep K Agarwal","doi":"10.1016/j.berh.2024.101981","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101981","url":null,"abstract":"<p><p>Systemic sclerosis (SSc) is a complex autoimmune disease that clinically manifests as progressive fibrosis of the skin and internal organs. Autoimmunity and endothelial dysfunction play important roles in the development of SSc but the causes of SSc remain unknown. Accumulating evidence, first from familial aggregation studies and subsequently from candidate gene association studies and genome wide association studies underscore the crucial contributions of genetics to the development of SSc. The identification of polymorphisms in the HLA region as well as non-HLA loci is important for understanding the risks of developing SSc but can also provide important pathogenic insight in SSc. While not translating into clinic practice yet, understanding the genetic landscape of SSc will hopefully assist in the diagnosis and management of patients with and/or at risk of developing SSc in the future. Herein we review the studies that investigate genetic risks of SSc susceptibility.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"101981"},"PeriodicalIF":4.5,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141789824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pharmacogenetics of therapies in rheumatoid arthritis: An update. 类风湿性关节炎的药物遗传学疗法：最新进展。
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-07-20 DOI: 10.1016/j.berh.2024.101974
Mohamed H Babiker-Mohamed, Sambhawana Bhandari, Prabha Ranganathan
{"title":"Pharmacogenetics of therapies in rheumatoid arthritis: An update.","authors":"Mohamed H Babiker-Mohamed, Sambhawana Bhandari, Prabha Ranganathan","doi":"10.1016/j.berh.2024.101974","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101974","url":null,"abstract":"<p><p>Rheumatoid arthritis (RA) is a systemic autoimmune inflammatory arthritis. Despite many treatment advances, achieving remission or low-disease activity in RA remains challenging, often requiring trial and error approaches with numerous medications. Precision medicine, particularly pharmacogenomics, explores how genetic factors influence drug response in individual patients, and incorporates such factors to develop personalized treatments for individual patients. Genetic variations in drug-metabolizing enzymes, transporters, and targets may contribute to inter-individual differences in drug efficacy and toxicity. Advancements in molecular sequencing have allowed rapid identification of such variants, including single nucleotide polymorphisms (SNPs). This review highlights recent major findings in the pharmacogenetics of therapies in RA, focusing on key genes and SNPs to provide insights into current trends and developments in this field.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"101974"},"PeriodicalIF":4.5,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141735577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring the contribution of genetics on the clinical manifestations of systemic lupus erythematosus. 探索遗传学对系统性红斑狼疮临床表现的影响。
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-07-15 DOI: 10.1016/j.berh.2024.101971
Ruth D Rodríguez, Marta E Alarcón-Riquelme
{"title":"Exploring the contribution of genetics on the clinical manifestations of systemic lupus erythematosus.","authors":"Ruth D Rodríguez, Marta E Alarcón-Riquelme","doi":"10.1016/j.berh.2024.101971","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101971","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"101971"},"PeriodicalIF":4.5,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141629257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Utility of polygenic risk scores to aid in the diagnosis of rheumatic diseases. 多基因风险评分在风湿病诊断中的应用。
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-07-12 DOI: 10.1016/j.berh.2024.101973
Lucía Santiago-Lamelas, Raquel Dos Santos-Sobrín, Ángel Carracedo, Patricia Castro-Santos, Roberto Díaz-Peña
{"title":"Utility of polygenic risk scores to aid in the diagnosis of rheumatic diseases.","authors":"Lucía Santiago-Lamelas, Raquel Dos Santos-Sobrín, Ángel Carracedo, Patricia Castro-Santos, Roberto Díaz-Peña","doi":"10.1016/j.berh.2024.101973","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101973","url":null,"abstract":"<p><p>Rheumatic diseases (RDs) are characterized by autoimmunity and autoinflammation and are recognized as complex due to the interplay of multiple genetic, environmental, and lifestyle factors in their pathogenesis. The rapid advancement of genome-wide association studies (GWASs) has enabled the identification of numerous single nucleotide polymorphisms (SNPs) associated with RD susceptibility. Based on these SNPs, polygenic risk scores (PRSs) have emerged as promising tools for quantifying genetic risk in this disease group. This chapter reviews the current status of PRSs in assessing the risk of RDs and discusses their potential to improve the accuracy of the diagnosis of these complex diseases through their ability to discriminate among different RDs. PRSs demonstrate a high discriminatory capacity for various RDs and show potential clinical utility. As GWASs continue to evolve, PRSs are expected to enable more precise risk stratification by integrating genetic, environmental, and lifestyle factors, thereby refining individual risk predictions and advancing disease management strategies.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"101973"},"PeriodicalIF":4.5,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141602126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetics of osteoarthritis. 骨关节炎的遗传学。
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-07-05 DOI: 10.1016/j.berh.2024.101972
Guangju Zhai, Jingyi Huang
{"title":"Genetics of osteoarthritis.","authors":"Guangju Zhai, Jingyi Huang","doi":"10.1016/j.berh.2024.101972","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101972","url":null,"abstract":"<p><p>Osteoarthritis (OA) is the most common form of arthritis with well recognized multifactorial nature. While several environmental factors such as older age, obesity and previous joint injury are strongly associated with its development, a genetic influence on OA has been recognized for over 80 years. Identification of genes associated with OA has received considerable attention over the last two decades, aided by the rapidly evolving genotyping and sequencing technologies. More than 300 genomic loci have been identified to be associated with OA at different joints. These findings are likely to help our better understanding of the pathogenesis of OA and lead to important therapeutic and diagnostic advances in this most common disabling rheumatic disorder. This article will review the data that support the role of genetic factors in common idiopathic OA.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"101972"},"PeriodicalIF":4.5,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141545431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetics of rheumatoid arthritis. 类风湿性关节炎的遗传学。
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-07-01 DOI: 10.1016/j.berh.2024.101968
Seema D Sharma, Shek H Leung, Sebastien Viatte
{"title":"Genetics of rheumatoid arthritis.","authors":"Seema D Sharma, Shek H Leung, Sebastien Viatte","doi":"10.1016/j.berh.2024.101968","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101968","url":null,"abstract":"<p><p>In the past four decades, a plethora of genetic association studies have been carried out in cohorts of patients with rheumatoid arthritis. These studies have highlighted key aspects of disease pathogenesis and suggested causal mechanisms. In this review, we discuss major advances in our understanding of the genetic architecture of rheumatoid arthritis susceptibility, severity and treatment response and explain how genetics supports current models of disease pathogenesis and outcome. We outline future research directions, like Mendelian randomisation, and present a number of potential avenues for clinical translation, including risk and outcome prediction, patient stratification into treatment response groups and pharmacological applications.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"101968"},"PeriodicalIF":4.5,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetics of vasculitis. 血管炎的遗传学。
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-07-01 DOI: 10.1016/j.berh.2024.101969
Miguel Ángel González-Gay, Elena Heras-Recuero, Teresa Blázquez-Sánchez, Claritza Caraballo-Salazar, Fernando Rengifo-García, Santos Castañeda, Javier Martín, Ana Marquez, Raquel Largo
{"title":"Genetics of vasculitis.","authors":"Miguel Ángel González-Gay, Elena Heras-Recuero, Teresa Blázquez-Sánchez, Claritza Caraballo-Salazar, Fernando Rengifo-García, Santos Castañeda, Javier Martín, Ana Marquez, Raquel Largo","doi":"10.1016/j.berh.2024.101969","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101969","url":null,"abstract":"<p><p>Systemic vasculitis encompasses a wide range of conditions characterized by varying degrees of inflammation in blood vessels. Although the etiology of vasculitis remains unclear, accumulated data suggest that it is triggered in genetically predisposed individuals by the concurrence of certain environmental factors. The importance of the genetic component has been consistently supported by evidence of familial aggregation, differential prevalence by ethnicity, and multiple genetic associations with disease susceptibility and severity reported in recent years. The strongest association signals in most vasculitides correspond to genetic variants within the HLA region, suggesting an important role of the immune system in its pathophysiology. However, each type of vasculitis has distinct defining HLA association markers, likely due to disease-specific differences in antigenic drivers. Furthermore, other genetic polymorphisms located outside the HLA region play an important role in susceptibility to different vasculitides. More recent research has assessed the shared genetic susceptibility evident across different vasculitides. Future studies should focus on the identification of genetic markers that can serve as reliable biomarkers for early diagnosis, prognosis, and treatment response in systemic vasculitis.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"101969"},"PeriodicalIF":4.5,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Use of Mendelian randomization to assess the causal status of modifiable exposures for rheumatic diseases. 使用孟德尔随机法评估风湿病可改变暴露的因果关系。
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-06-30 DOI: 10.1016/j.berh.2024.101967
Sizheng Steven Zhao, Stephen Burgess
{"title":"Use of Mendelian randomization to assess the causal status of modifiable exposures for rheumatic diseases.","authors":"Sizheng Steven Zhao, Stephen Burgess","doi":"10.1016/j.berh.2024.101967","DOIUrl":"10.1016/j.berh.2024.101967","url":null,"abstract":"<p><p>The explosion in Mendelian randomization (MR) publications is hard to ignore and shows no signs of slowing. Clinician readers, who may not be familiar with jargon-ridden methods, are expected to discern the good from the many low-quality studies that make overconfident claims of causality or stretch the plausibility of what MR can investigate. We aim to equip readers with foundational concepts, contextualized using examples in rheumatology, to appraise the many MR papers that are or will appear in their journals. We highlight the importance of assessing whether exposures are under plausibly specific genetic influence, whether the hypothesized causal pathways make biological sense, and whether results stand up to replication and use of control outcomes. Quality of research can vary substantially using MR as with any design, and all methods have inherent limitations. MR studies have provided and can still contribute valuable insights in the context of evidence triangulation.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"101967"},"PeriodicalIF":4.5,"publicationDate":"2024-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7616521/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141477909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Non-coding DNA variants for risk in lupus 红斑狼疮风险的非编码 DNA 变异。
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-05-01 DOI: 10.1016/j.berh.2024.101937
{"title":"Non-coding DNA variants for risk in lupus","authors":"","doi":"10.1016/j.berh.2024.101937","DOIUrl":"10.1016/j.berh.2024.101937","url":null,"abstract":"<div><p>Systemic Lupus Erythematosus (SLE) is a multifactorial autoimmune disease that arises from a dynamic interplay between genetics and environmental triggers. The advent of sophisticated genomics technology has catalyzed a shift in our understanding of disease etiology, spotlighting the pivotal role of non-coding DNA variants in SLE pathogenesis. In this review, we present a comprehensive examination of the non-coding variants associated with SLE, shedding light on their role in influencing disease risk and progression. We discuss the latest methodological advancements that have been instrumental in the identification and functional characterization of these genomic elements, with a special focus on the transformative power of CRISPR-based gene-editing technologies. Additionally, the review probes into the therapeutic opportunities that arise from modulating non-coding regions associated with SLE. Through an exploration of the complex network of non-coding DNA, this review aspires to decode the genetic puzzle of SLE and set the stage for groundbreaking gene-based therapeutic interventions and the advancement of precision medicine strategies tailored to SLE management.</p></div>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 2","pages":"Article 101937"},"PeriodicalIF":4.5,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140013651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Immune checkpoints in autoimmune vasculitis 自身免疫性血管炎中的免疫检查点
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-05-01 DOI: 10.1016/j.berh.2024.101943
{"title":"Immune checkpoints in autoimmune vasculitis","authors":"","doi":"10.1016/j.berh.2024.101943","DOIUrl":"10.1016/j.berh.2024.101943","url":null,"abstract":"<div><p><span>Giant cell arteritis<span><span><span> (GCA) is a prototypic autoimmune disease with a highly selective tissue tropism for medium and large arteries. Extravascular GCA manifests with intense systemic inflammation and </span>polymyalgia rheumatica; vascular GCA results in vessel wall damage and stenosis, causing </span>tissue ischemia<span>. Typical granulomatous infiltrates in affected arteries are composed of CD4</span></span></span><sup>+</sup><span> T cells and hyperactivated macrophages, signifying the involvement of the innate and adaptive immune system. Lesional CD4</span><sup>+</sup> T cells undergo antigen-dependent clonal expansion, but antigen-nonspecific pathways ultimately control the intensity and duration of pathogenic immunity. Patient-derived CD4<sup>+</sup><span> T cells receive strong co-stimulatory signals through the NOTCH1 receptor and the CD28/CD80-CD86 pathway. In parallel, co-inhibitory signals, designed to dampen overshooting T cell immunity, are defective, leaving CD4</span><sup>+</sup><span> T cells unopposed and capable of supporting long-lasting and inappropriate immune responses. Based on recent data, two inhibitory checkpoints are defective in GCA: the Programmed death-1 (PD-1)/Programmed cell death ligand 1 (PD-L1) checkpoint and the CD96/CD155 checkpoint, giving rise to the “lost inhibition concept”. Subcellular and molecular analysis has demonstrated trapping of the checkpoint ligands in the endoplasmic reticulum, creating PD-L1</span><sup>low</sup><span> CD155</span><sup>low</sup> antigen-presenting cells. Uninhibited CD4<sup>+</sup><span> T cells expand, release copious amounts of the cytokine Interleukin (IL)-9, and differentiate into long-lived effector memory cells. These data place GCA and cancer on opposite ends of the co-inhibition spectrum, with cancer patients developing immune paralysis due to excessive inhibitory checkpoints and GCA patients developing autoimmunity due to nonfunctional inhibitory checkpoints.</span></p></div>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 2","pages":"Article 101943"},"PeriodicalIF":4.5,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140871112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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