Abstract:
PURPOSE OF REVIEW:This article discusses genomic investigations in ankylosing spondylitis (AS) beyond genome-wide association (GWA) studies, but prior to this, genetic variants achieving genome-wide significance will be summarized highlighting key pathways contributing to disease pathogenesis. RECENT FINDINGS:Evidence suggests that disease pathogenesis is attributed to a complex interplay of genetic, environmental and immunological factors. GWA studies have greatly enhanced our understanding of AS pathogenesis by illuminating distinct immunomodulatory pathways affecting innate and acquired immunity, most notably the interleukin-23/interleukin-17 pathway. However, despite the wealth of new information gleaned from such studies, a fraction of the heritability (24.4%) has been explained. This review will focus on investigations beyond GWA studies including copy number variants, gene expression profiling, including microRNA (miRNA), epigenetics, rare variants and gene-gene interactions. SUMMARY:To address the 'missing heritability' and advance beyond GWA studies, a concerted effort involving rethinking of study design and implementation of newer technologies will be required. The coming of age of next-generation sequencing and advancements in epigenetic and miRNA technologies, combined with familial-focused investigations using well-characterized cohorts, is likely to reveal some of the hidden genomic mysteries associated with AS.
journal_name
Curr Opin Rheumatoljournal_title
Current opinion in rheumatologyauthors
O'Rielly DD,Uddin M,Rahman Pdoi
10.1097/BOR.0000000000000297subject
Has Abstractpub_date
2016-07-01 00:00:00pages
337-45issue
4eissn
1040-8711issn
1531-6963pii
00002281-201607000-00002journal_volume
28pub_type
杂志文章,评审abstract:PURPOSE OF REVIEW:To provide a summary of recent advances in the pathophysiology of rheumatoid arthritis. RECENT FINDINGS:Highlights include further elucidation of the relationship between the shared epitope, smoking and anticitrullinated protein/peptide antibody generation, including identification of putative citrul...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0b013e32834518a3
更新日期:2011-05-01 00:00:00
abstract:PURPOSE OF REVIEW:Impaired renal uric acid excretion is the major mechanism of hyperuricemia in patients with primary gout. This review highlights recent advances in the knowledge of normal mechanisms of renal uric acid handling and derangement of these mechanisms in uric acid underexcretion. RECENT FINDINGS:The disco...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0b013e3282f33f87
更新日期:2008-03-01 00:00:00
abstract::Estimates of the prevalence and incidence of knee osteoarthritis increase with age and are higher for women. Other differences in such estimates arise due to methodologic variables, including radiographic techniques. The risk for knee osteoarthritis increases with increasing body weight, long-term occupational joint s...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:
更新日期:1992-08-01 00:00:00
abstract::Methotrexate has become a standard therapy for the treatment of rheumatoid arthritis. This review summarizes the recent literature on low-dose methotrexate in the rheumatologic illnesses. The effect of methotrexate on in vivo rheumatoid factor production and suppression of ex vivo leukotriene B4 generation is reviewed...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:
更新日期:1991-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The article reviews recent advances in the research of fractures in patients with systemic lupus erythematosus (SLE), highlighting their clinical, scientific, and economic impact. RECENT FINDINGS:Recent studies demonstrated an increased incidence of osteoporosis and symptomatic fractures in patients ...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0000000000000290
更新日期:2016-07-01 00:00:00
abstract::Recent studies have revealed the important role of streptococci in the etiology of Behçet's disease. Among patients with Behçet's disease, there is a high incidence of a history of streptococcal infections. Certain antigens of streptococci induced not only cutaneous, delayed-type hypersensitivity, but also systemic at...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:
更新日期:1991-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Chronic periaortitis is characterized by a fibro-inflammatory process spreading from the abdominal aorta and the iliac arteries. Originally, chronic periaortitis was considered a localized inflammatory response to severe aortic atherosclerosis. However, subsequent studies have shown that chronic peria...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0b013e328341137d
更新日期:2011-01-01 00:00:00
abstract:PURPOSE OF REVIEW:The utility of cytokines as therapeutic targets in rheumatoid arthritis has been unequivocally demonstrated by the success of tumour necrosis factor blockade in clinical practice. Partial and non-responses to tumour necrosis factor blocking agents, however, together with the increasing clinical drive ...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0b013e3280eec78c
更新日期:2007-05-01 00:00:00
abstract::Systemic lupus erythematosus and Sjögren syndrome remain elusive in the description of their underlying etiologic causes and pathogenic mechanisms. Although underlying genetic predisposition appears to contribute to both diseases based on twin and other genetic studies, additional factors must play a role. Over the de...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/00002281-200109000-00005
更新日期:2001-09-01 00:00:00
abstract:PURPOSE OF REVIEW:Juvenile systemic sclerosis has a variety of clinical manifestations, sometimes different from the adult form. Early recognition, proper classification and treatment may improve the long-term outcome. RECENT FINDINGS:A large multicenter study coordinated by the Pediatric Rheumatology European Society...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0b013e3282f01625
更新日期:2007-11-01 00:00:00
abstract:PURPOSE OF REVIEW:The production of autoantibodies against nuclear antigens is the hallmark of systemic lupus erythematosus. Among the large number of autoantibodies known, only a limited number appear to be clinically important. The various autoantibodies have different clinical significance in lupus patients. In this...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/01.bor.0000135452.62800.8f
更新日期:2004-09-01 00:00:00
abstract::Bacterial infections can clinically mimic a primary vasculitic syndrome and can directly cause a vasculitis that may respond to prompt recognition and treatment of the infection. Increasing direct and indirect evidence is establishing links between certain infections and vasculopathies, including aortitis, atheroscler...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/00002281-199801000-00008
更新日期:1998-01-01 00:00:00
abstract::The polymorphism of HLA-B27 alleles is located in the peptide-anchoring motif. In recent years, fundamental insights have been made into the molecular aspects of HLA-B27-restricted presentation. Subtle differences in peptide binding fine specificity are especially interesting for closely related HLA-B27 alleles that h...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/00002281-199607000-00005
更新日期:1996-07-01 00:00:00
abstract:PURPOSE OF REVIEW:To provide an overview of recently published work on autologous hematopoietic stem-cell transplantation (HSCT) in patients with systemic sclerosis (SSc). RECENT FINDINGS:Superiority of HSCT vs. intravenous cyclophosphamide pulses was demonstrated in the randomized controlled American Scleroderma: Cyc...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0000000000000541
更新日期:2018-11-01 00:00:00
abstract::The recent literature pertaining to tumors of articular structures and bone is reviewed. In pigmented villonodular synovitis, the bone resorptive cell is a macrophage polykaryon rather than an osteoclast. Complete arthroscopic synovectomy was successful in most diffuse articular forms of the disease. The early synovia...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/00002281-199305020-00012
更新日期:1993-03-01 00:00:00
abstract:PURPOSE OF REVIEW:The purpose of this review is to provide an update on cardiovascular involvement in idiopathic inflammatory myopathy (IIM). Studies from the past 18 months are identified and reviewed. Finally, the clinical impact of these findings is discussed. RECENT FINDINGS:Epidemiological studies have revealed a...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0000000000000442
更新日期:2017-11-01 00:00:00
abstract:PURPOSE OF REVIEW:Rheumatoid arthritis (RA) is a systemic, autoimmune disease resulting in the destruction of affected joints. Even though current therapies with biologics such as tumor necrosis factor-alpha blockers yield significant improvement for the patients, the disease is not curable yet. Therefore, we need nove...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0b013e3283389641
更新日期:2010-05-01 00:00:00
abstract:PURPOSE OF REVIEW:Despite its critical roles in body movement, structure, and metabolism, skeletal muscle remains underappreciated in the context of rheumatoid arthritis. In rheumatoid arthritis, chronic inflammation, physical inactivity, and medication toxicities impair skeletal muscle. These skeletal muscle alteratio...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0000000000000697
更新日期:2020-05-01 00:00:00
abstract::Within the past year information has accumulated on the role of infections in the pathogenesis of vasculitis. Superantigens play an important role in the stimulation of the immune system. Behçet's syndrome is a vasculitis that affects children as well as adults. Recently published childhood studies highlight the impor...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/00002281-199909000-00011
更新日期:1999-09-01 00:00:00
abstract:PURPOSE OF REVIEW:We aim to give an overview of the recent progress in the knowledge of the genetic component of vasculitides. RECENT FINDINGS:Using a state-of-the-art imputation method to analyse the major histocompatibility complex (MHC) region, Ombrello and colleagues narrowed down the association between human leu...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0000000000000124
更新日期:2015-01-01 00:00:00
abstract::Tumor necrosis factor-alpha, acting through its receptors expressed on all cells of the body, is a key mediator of inflammation and immunity. However, its overproduction may also lead to pathologic changes. The latter situation occurs often in chronic inflammatory diseases such as rheumatoid arthritis. The concept sug...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/00002281-200305000-00014
更新日期:2003-05-01 00:00:00
abstract:PURPOSE OF REVIEW:This review provides an update on the new interleukin-1 (IL-1) cytokine family members in inflammatory diseases with focus on recent findings concerning the family members IL-36, IL-37, and IL-38 and their different expression patterns. RECENT FINDINGS:The IL-1 cytokines are known to be involved in m...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0000000000000361
更新日期:2017-03-01 00:00:00
abstract::Animal models of systemic connective tissue diseases have provided valuable insights into the causative mechanisms and the pathogenesis of these diseases, and have provided the means to test potentially useful therapeutic interventions. Although numerous animal models for systemic sclerosis (SSc) have been described, ...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/00002281-200211000-00008
更新日期:2002-11-01 00:00:00
abstract::Patients with inflammatory arthritides such as rheumatoid arthritis develop both localized and generalized osteoporosis and have an increased risk of fracture. Bone loss can occur early and is directly related to the inflammatory process as well as to the indirect effects of arthritis on physical activity. Corticoster...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/00002281-199607000-00015
更新日期:1996-07-01 00:00:00
abstract::The Achilles tendon is the strongest tendon in the human body. Because most Achilles tendon injuries take place in sports and there has been an common upsurge in sporting activities, the number and incidence of the Achilles tendon overuse injuries and complete ruptures have increased in the industrialized countries du...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/00002281-200103000-00009
更新日期:2001-03-01 00:00:00
abstract:PURPOSE OF REVIEW:Provide an update of studies published in last 2 years on the outcomes and therapies in childhood-onset systemic lupus erythematous (cSLE). RECENT FINDINGS:Additional evidence has been provided about the benefits of universal hydroxychloroquine in SLE patients, although antimalarial maculopathy may b...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0000000000000621
更新日期:2019-09-01 00:00:00
abstract::Although nephritis remains a very important clinical disease manifestation of systemic lupus erythematosus (SLE), the focus has shifted from issues of mortality to morbidity. An improved method for measuring renal function is presented, and the value of renal biopsy, specifically the chronicity index, is confirmed as ...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/00002281-199110000-00006
更新日期:1991-10-01 00:00:00
abstract::In this review, we address current concepts and recent experimental results that relate to heterogeneity in the physiologic, biochemical, and morphologic properties of mammalian skeletal muscle fibers. Recent data reinforce some of these current concepts while questioning others. The biochemical bases of the concepts ...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/00002281-199305060-00002
更新日期:1993-11-01 00:00:00
abstract:PURPOSE OF REVIEW:This review will explore two new aspects of the involvement of viruses in multiple sclerosis pathogenesis. The first aspect is the complex interactions between viruses. The second aspect is the proposal of a mechanism by which autoreactive T cells are able to escape thymic selection and potentially re...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0b013e328362004d
更新日期:2013-07-01 00:00:00
abstract:PURPOSE OF REVIEW:Osteoporosis guidelines do not usually provide specific recommendations regarding what medication is most appropriate for individual patients. Generic oral bisphosphonates are often considered first-line treatment for osteoporosis, but treatment duration is limited, based on potential long-term safety...
journal_title:Current opinion in rheumatology
pub_type: 杂志文章,评审
doi:10.1097/BOR.0000000000000509
更新日期:2018-07-01 00:00:00