Abstract:
AIM:To explain the missing heritability after the genome-wide association studies era, sequencing studies allow the identification of low-frequency variants with a stronger effect on disease risk. Common variants in the interleukin 10 gene (IL10) have been consistently associated with Behçet's disease (BD) and the goal of this study is to investigate the role of low-frequency IL10 variants in BD susceptibility. METHODS:To identify IL10 low-frequency variants, a discovery group of 50 Portuguese BD patients were Sanger-sequenced in a 7.7 kb genomic region encompassing the complete IL10 gene, 0.9 kb upstream and 2 kb downstream, and two conserved regions in the putative promoter. To assess if the novel variants are BD- and/or Portuguese-specific, they were assayed in an additional group of BD patients (26 Portuguese and 964 Iranian) and controls (104 Portuguese and 823 Iranian). RESULTS:Rare IL10 coding variants were not detected in BD patients, but we identified 28 known single nucleotide polymorphisms with minor allele frequencies ranging from 0.010 to 0.390, and five novel non-coding variants in five heterozygous cases. ss836185595, located in the IL10 3' untranslated region, was also detected in one Iranian control individual and therefore is not specific to BD. The remaining novel IL10 variants (ss836185596 and ss836185602 in intron 3, ss836185598 and ss836185604 in the putative promoter region) were not found in the replication dataset. CONCLUSION:This study highlights the importance of screening the whole gene and regulatory regions when searching for novel variants associated with complex diseases, and the need to develop bioinformatics tools to predict the functional impact of non-coding variants and statistical tests which incorporate these predictions.
journal_name
Int J Rheum Disjournal_title
International journal of rheumatic diseasesauthors
Matos M,Xavier JM,Abrantes P,Sousa I,Rei N,Davatchi F,Shahram F,Jesus G,Barcelos F,Vedes J,Salgado M,Abdollahi BS,Nadji A,Moraes-Fontes MF,Shafiee NM,Ghaderibarmi F,Vaz Patto J,Crespo J,Oliveira SAdoi
10.1111/1756-185X.12369subject
Has Abstractpub_date
2017-05-01 00:00:00pages
622-627issue
5eissn
1756-1841issn
1756-185Xjournal_volume
20pub_type
杂志文章,多中心研究abstract:AIM:It is generally accepted that hyperuricemia is commonly associated with psoriatic arthritis (PsA). However, variations in ethnicity, diet and habitat may contribute to differences in prevalence and risk factors for hyperuricemia in PsA patients. Moreover, Asian specific data is deficient. The primary objective of t...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章,多中心研究
doi:10.1111/1756-185X.13265
更新日期:2018-04-01 00:00:00
abstract:AIM:To study the profile of autoantibodies on long-term follow-up of children with Kawasaki disease (KD). PATIENTS AND METHODS:In this single-center observational cohort study, 50 children who had been diagnosed and treated for KD with a minimum follow-up period of 3 years were enrolled. The organ-specific autoantibod...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.13372
更新日期:2018-11-01 00:00:00
abstract:AIM:To evaluate the efficacy of tumor necrosis factor inhibitor infliximab in patients with rheumatoid arthritis (RA) who were disease-resistant to recombinant human interleukin-1 receptor antagonist (IL-1Ra). METHODS:A total of 104 patients with active RA despite methotrexate (MTX) treatment were enrolled in the open...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章,随机对照试验
doi:10.1111/1756-185X.12387
更新日期:2016-04-01 00:00:00
abstract:OBJECTIVES:Kawasaki disease (KD) is an acute systemic vasculitis. Activation of the immune system is a central feature of KD. Some KD patients are resistant to initial high-dose intravenous immunoglobulin (IVIG) treatment. The study aimed to determine the predictors of IVIG resistance. METHOD:A single-center, retrospe...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.12082
更新日期:2013-04-01 00:00:00
abstract:AIM:There is growing evidence that cold-inducible RNA-binding protein (CIRP) promotes inflammatory responses. This study investigated the relationship between CIRP and rheumatoid arthritis (RA). METHODS:Peripheral blood and synovial fluid were collected from 15 patients with RA and from 16 patients with osteoarthritis...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.12892
更新日期:2018-01-01 00:00:00
abstract::This paper examines and summarizes data on knee osteoarthritis (AO) in Community Oriented Program For Control Of Rheumatic Disorders (COPCORD) publications. A literature search was made through PubMed, Google, Proceedings of Asia-Pacific League of Associations for Rheumatology (APLAR) congresses, and Abstracts from AP...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章,评审
doi:10.1111/j.1756-185X.2011.01615.x
更新日期:2011-05-01 00:00:00
abstract:OBJECTIVE:Laboratory and immunological abnormalities seen in overt macrophage activation syndrome (MAS) may be observed in patients with untreated new onset systemic onset juvenile idiopathic arthritis (SoJIA). We investigated the prevalence of clinical and traditional laboratory markers of MAS as well as soluble CD163...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.12196
更新日期:2014-03-01 00:00:00
abstract:AIM:Some studies have been performed to elucidate the association between Fc gamma receptor 3B (FCGR3B) copy number (CN) and the risk of systemic lupus erythematosus (SLE) and/or lupus nephritis (LN), yet the results remain conflicting. Therefore, we have undertaken a systematic review of all the studies published and ...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章,meta分析,评审
doi:10.1111/1756-185X.12342
更新日期:2015-05-01 00:00:00
abstract:AIMS:In order to investigate the histological change in effect attenuation cases of etanercept compared with methotrexate (MTX), we performed immunohistochemical examination by seven different molecules. METHODS:We histologically assessed synovial tissue from five MTX-treated rheumatoid arthritis (RA) patients as cont...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/j.1756-185X.2009.01372.x
更新日期:2009-04-01 00:00:00
abstract:INTRODUCTION:Maintenance of temperature during collection and transport of blood is an important pre-requisite for cryoglobulin assays. In this manuscript, we describe 'cryodevice', a low-cost device for transportation and/or incubation of vials of whole blood at 37°C. Such a device would reduce false negatives in cryo...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.13161
更新日期:2018-01-01 00:00:00
abstract:AIM AND OBJECTIVE:To evaluate the association between ultrasonographic findings of inflammation (effusion, synovitis) and clinical findings in patients with primary painful knee osteoarthritis. METHOD:This cross-sectional study was performed on 142 patients with primary painful knee osteoarthritis (American College of...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.12834
更新日期:2017-05-01 00:00:00
abstract::Tofacitinib is an oral Janus kinase inhibitor for the treatment of rheumatoid arthritis (RA). Here, the safety and efficacy data from five Phase 2 studies of tofacitinib in patients with RA are summarized. Tofacitinib 1-30 mg twice daily was investigated, as monotherapy and in combination with methotrexate, in patient...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章,评审
doi:10.1111/1756-185X.12901
更新日期:2016-12-01 00:00:00
abstract:AIM:This study was designed to examine the effect of Burdock root tea on inflammatory markers and oxidative stress indicators in patients with knee osteoarthritis (OA). METHODS:Thirty-six patients (10 men and 26 women) aged 50-70 years old with knee osteoarthritis referred to the Physical Medicine and Rehabilitation D...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章,随机对照试验
doi:10.1111/1756-185X.12477
更新日期:2016-03-01 00:00:00
abstract:OBJECTIVE:To evaluate the performance of a line blot (LB) assay for identifying anti-PM-Scl antibody (Ab). METHODS:We screened 56 serum samples from systemic sclerosis patients using a protein immunoprecipitation (IP) assay and an LB assay (Systemic Sclerosis Profile Euroline® Blot test kit) to detect anti-PM-Scl Ab. ...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.13638
更新日期:2019-09-01 00:00:00
abstract:AIM:Osteoporosis in axial spondyloarthropathy (axSpA) is difficult to accurately diagnose due to osteoproliferation of the spine interfering with conventional (anteroposterior, AP) dual-energy X-ray absorptiometry (DXA). This study compares AP and lateral projections of DXA when assessing bone mineral density (BMD) of ...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章,多中心研究
doi:10.1111/1756-185X.13765
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVES:Multidisciplinary discussions (MDDs) have emphasized improve medical services and outcomes. We used a multidisciplinary approach to explore whether patient emotional satisfaction and confidence affected treatment outcomes in rheumatic disease (RD)-related interstitial lung disease (ILD). METHODS:From Decemb...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.13331
更新日期:2018-08-01 00:00:00
abstract:AIM:Idiopathic granulomatous mastitis (IGM) is an enigmatic inflammatory breast disorder. IGM responds to immunomodulatory treatment and may be associated with systemic manifestations such as arthritis and erythema nodosum. These patients are increasingly referred to rheumatologists for management, but IGM is rarely di...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.14065
更新日期:2021-02-01 00:00:00
abstract:AIM:This study evaluated the anti-inflammatory properties of a species of Sorghum bicolor leaf (SBL) grown in West Africa. METHOD:Cyclo-oxygenase (COX)-2:COX-1 selectivity assay was carried out by plating isolated peripheral blood mononuclear cells in culture medium with specific SBL fractions: crude extract (J), ethy...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.13355
更新日期:2018-08-01 00:00:00
abstract:AIM:Eosinophilic fasciitis (EF) is a rare, fibrosing disorder of skin and subcutaneous tissue. This study was undertaken to describe its clinical and laboratory features and identify prognostic factors associated with outcome. METHODS:We conducted a retrospective review of all EF patients evaluated at our institution ...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.13770
更新日期:2020-02-01 00:00:00
abstract:AIM:Colchicine prophylaxis is the single most important factor in ameliorating familial Mediterranean fever (FMF) for the prevention of both attacks and secondary amyloidosis. The aim of the present study was to evaluate the exact proportion of those patients who do not respond to colchicine and to characterize their d...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.12374
更新日期:2017-12-01 00:00:00
abstract:AIM:The use of healthcare resources by rheumatoid arthritis (RA) patients can be related to the presence of disease, comorbid conditions, use of steroids, and the combined use of immunosuppressants. This study evaluated the risk factors associated with infection and hospitalization in RA. METHODS:This multicenter, cro...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章,多中心研究
doi:10.1111/1756-185X.13562
更新日期:2019-07-01 00:00:00
abstract::We report a rare case of antisynthase syndrome (ASS) complicated with Kaposi sarcoma, analyze its clinical characteristics, and review the literature on the topic. An 80-year-old male patient developed fever, cough, and shortness of breath. Lung high-resolution computed tomography showed nonspecific interstitial pneum...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.13861
更新日期:2020-06-01 00:00:00
abstract:INTRODUCTION:Data regarding the incidence rate (IR) of cardiopulmonary involvement in comparison between late-onset SSc and early-onset SSc are limited. OBJECTIVE:To compare the prevalence of clinical manifestations and the IR of cardiopulmonary involvement compared between the two subgroups. METHODS:An inception coh...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.13307
更新日期:2018-05-01 00:00:00
abstract:AIM:The main objective of this study is to elucidate the clinical significance of the SLC2A9/GLUT9 rs11722228 polymorphism among male gout patients. METHOD:We consecutively recruited all newly diagnosed male gout patients who were treatment-naive from the rheumatology outpatient clinics of two Malaysian hospitals. Age...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章,多中心研究
doi:10.1111/1756-185X.12918
更新日期:2018-03-01 00:00:00
abstract:AIM:To analyze the clinical features, outcomes and prognosis of neonatal lupus erythematosus (NLE) in China. METHOD:We reviewed 12 NLE cases at the Peking Union Medical College Hospital and compared the data with 111 cases reported in China between 1990 and 2014. The Chinese medical journal search engines used in this...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章,评审
doi:10.1111/1756-185X.12652
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVE:To investigate the impact of subclinical synovitis detected by ultrasonography (US) on the ankles and feet of patients with rheumatoid arthritis. METHODS:We retrospectively reviewed the data of patients (n = 59) who underwent US. RESULTS:The functional ability and quality of life (QoL) of patients in the su...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.13399
更新日期:2019-01-01 00:00:00
abstract:OBJECTIVE:Complex regional pain syndrome (CRPS) type I is one of the most important problems with regard to physical medicine and rehabilitation. CRPS may cause not only higher therapeutic costs but also greater work time loss. The mechanism and pathogenesis of CRPS still remains unknown. Some findings indicating oxida...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.12140
更新日期:2014-02-01 00:00:00
abstract:AIM:Nonspecific chronic synovitis of the knee joint was reported by Pollard in 1962 and its pathogenesis is considered to be a physiological reaction to intra-articular disease. In this study, we evaluated the pathological findings of the synovium of early osteoarthritis (OA)-affected knee joints with hydrarthrosis in ...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.12404
更新日期:2016-05-01 00:00:00
abstract:AIM:The aim of this study is to evaluate the clinical parameters, acute-phase reactants, side effects, genetic mutations among colchicine-resistant Familial Mediterranean fever (FMF) patients who received anti-interleukin-1 (anti-IL-1) treatment. We also evaluate the quality of life and school attendance among colchici...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.13891
更新日期:2020-07-01 00:00:00
abstract:AIM:To investigate the effects on hypercholesterolemia and hypertriglyceridemia in gouty patients receiving uric acid-lowering therapy (UALT). METHODS:A retrospective study was performed from January 2015 to December 2017 in gouty patients receiving UALT. A total of 124 gouty patients with hypercholesterolemia or hype...
journal_title:International journal of rheumatic diseases
pub_type: 杂志文章
doi:10.1111/1756-185X.13652
更新日期:2019-08-01 00:00:00