scholarly journals Erratum: Corrigendum: Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
F. David Carmona ◽  
◽  
Patrick Coit ◽  
Güher Saruhan-Direskeneli ◽  
José Hernández-Rodríguez ◽  
...  
Keyword(s):  
Genetic Component ◽  
Large Vessel ◽  
The Common ◽  
Large Vessel Vasculitides

scholarly journals Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
F. David Carmona ◽  
◽  
Patrick Coit ◽  
Güher Saruhan-Direskeneli ◽  
José Hernández-Rodríguez ◽  
...  
Keyword(s):  
Risk Factor ◽  
Meta Analysis ◽  
Statistical Significance ◽  
Large Vessel ◽  
Significance Threshold ◽  
Susceptibility Factors ◽  
The Common ◽  
Hla Dqa1 ◽  
Large Vessel Vasculitides ◽  
Disease Specific

Abstract Giant cell arteritis (GCA) and Takayasu’s arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. Genetic pleiotropy was also estimated. The HLA region harboured the main disease-specific associations. GCA was mostly associated with class II genes (HLA-DRB1/HLA-DQA1) whereas TAK was mostly associated with class I genes (HLA-B/MICA). Both the statistical significance and effect size of the HLA signals were considerably reduced in the cross-disease meta-analysis in comparison with the analysis of GCA and TAK separately. Consequently, no significant genetic correlation between these two diseases was observed when HLA variants were tested. Outside the HLA region, only one polymorphism located nearby the IL12B gene surpassed the study-wide significance threshold in the meta-analysis of the discovery datasets (rs755374, P = 7.54E-07; ORGCA = 1.19, ORTAK = 1.50). This marker was confirmed as novel GCA risk factor using four additional cohorts (PGCA = 5.52E-04, ORGCA = 1.16). Taken together, our results provide evidence of strong genetic differences between GCA and TAK in the HLA. Outside this region, common susceptibility factors were suggested, especially within the IL12B locus.

Therapeutic update in large vessel vasculitides

2013 ◽  
Vol 213 (7) ◽  
pp. 338-346
Author(s):  
S. Pérez-Esteban ◽  
M.A. González-Gay ◽  
S. Castañeda
Keyword(s):  
Large Vessel ◽  
Large Vessel Vasculitides

Large vessel vasculitides

Medicine ◽  
2021 ◽  
Author(s):  
Muhamad Jasim ◽  
Caroline M. Cardy
Keyword(s):  
Large Vessel ◽  
Large Vessel Vasculitides

GENETICS SOCIETY OF CANADA AWARD OF EXCELLENCE LECTURE: THE GENETICS OF COMMON FAMILIAL DISORDERS — MAJOR GENES OR MULTIFACTORIAL?

1981 ◽  
Vol 23 (1) ◽  
pp. 1-8 ◽  
Author(s):  
F. C. Fraser
Keyword(s):  
Mathematical Models ◽  
Threshold Model ◽  
Genetic Component ◽  
Pharmacological Agent ◽  
Major Genes ◽  
Predisposing Genes ◽  
The Common ◽  
Low Levels ◽  
Therapeutic Doses ◽  
Familial Disorders

The common familial disorders were, until recently, neglected by geneticists because their familial distributions did not neatly fit the Mendelian mold, and no specific genes could be identified. The multifactorial-threshold model made the familial characteristics of these disorders more intelligible. Although it originally postulated a polygenic genetic component the model can also accommodate one or more major genes with low penetrance. The resulting upsurge of interest has led to (1) the development of increasingly sophisticated mathematical models from which to calculate recurrence risks for specific family situations and (2) the identification of specific predisposing genes in a number of such disorders. One of the corollaries of the model is that any pharmacological agent at therapeutic doses is likely to be teratogenic to at least some embryos, so that regulation should be in terms of "acceptably low" levels of teratogenicity rather than "safety".

scholarly journals Imaging in Large Vessel Vasculitides

2019 ◽  
Vol 191 (12) ◽  
pp. 1083-1090 ◽  
Author(s):  
Konstanze Guggenberger ◽  
Thorsten Bley
Keyword(s):  
Giant Cell Arteritis ◽  
Giant Cell ◽  
Clinical Laboratory ◽  
Takayasu’S Arteritis ◽  
Large Vessel ◽  
Temporal Artery Biopsy ◽  
Takayasu's Arteritis ◽  
Diagnostic Reliability ◽  
First Choice ◽  
Large Vessel Vasculitides

Background Large vessel vasculitides comprise primary vasculitides of large and medium-sized arteries with various clinical, laboratory and radiological presentations. Imaging has become increasingly important in the diagnosis and monitoring of large vessel vasculitides. It complements clinical and laboratory examination and displays vasculitic changes of large extra- and intracranial arteries with relatively good diagnostic reliability and a low level of invasiveness. Method This review presents the most important imaging modalities and some typical imaging findings in the context of the two main forms of large vessel vasculitis, giant cell arteritis and Takayasu’s arteritis, with special regard to the recently launched EULAR (The European League Against Rheumatism) recommendations on the role of imaging in patients with suspected large vessel vasculitides. Results and Conclusion Color-coded duplex sonography (CCDS), magnetic resonance imaging (MRI), computed tomography (CT), and 18F-fluorodeoxyglucose positron emission tomography are today’s common imaging methods in large vessel vasculitides representing a reasonable and less invasive alternative or at least a good complement to temporal artery biopsy. Today’s EULAR guidelines recommend an imaging test as the first complementary method to clinical examination with CCDS as the preferred diagnostic test in suspected giant cell arteritis, MRI as the equivalent alternative in the case of inconclusive results, and MRI as the first choice in suspected Takayasu’s arteritis. Key Points:  Citation Format

scholarly journals Current Controversies in Large-Vessel Inflammatory Vasculitis and Thoracic Aortic Aneurysm Disease

2019 ◽  
Vol 28 (04) ◽  
pp. 215-225 ◽  
Author(s):  
Amer Harky ◽  
Matthew Fok ◽  
Callum Howard ◽  
Mohamad Bashir
Keyword(s):  
Patient Outcomes ◽  
Thoracic Aortic Aneurysm ◽  
Large Vessel Vasculitis ◽  
Large Vessel ◽  
Prompt Treatment ◽  
Key Points ◽  
Life Threatening ◽  
Inflammatory Changes ◽  
Large Vessel Vasculitides ◽  
Aortic Lesions

AbstractLarge-vessel vasculitis encompasses the spectrum of vasculitides, which pathologically cause chronic granulomatous inflammatory changes, primarily in the aorta and its major branches. These patients are at risk of developing life-threatening aortic lesions that, without recognition and prompt treatment, can cause detrimental effects. Many provocative issues surrounding large-vessel vasculitis and its surgical treatment still remain, spanning from recognition to management. In this review, we discuss the main large-vessel vasculitides, Takayasu's arteritis and giant cell arteritis. We include the key points and current controversies surrounding diagnostic imaging, timing of interventions, and patient outcomes.

Large vessel vasculitides

1998 ◽  
Vol 10 (1) ◽  
pp. 18-28 ◽  
Author(s):  
Maria C. Cid ◽  
Carme Font ◽  
Blanca Coll-Vinent ◽  
Josep M. Grau
Keyword(s):  
Large Vessel ◽  
Large Vessel Vasculitides

Large vessel vasculitides

Medicine ◽  
2006 ◽  
Vol 34 (11) ◽  
pp. 468-471 ◽  
Author(s):  
Caroline Gordon
Keyword(s):  
Large Vessel ◽  
Large Vessel Vasculitides

scholarly journals Patient Reported Outcomes in Large Vessel Vasculitides

2021 ◽  
Vol 23 (2) ◽  
Author(s):  
Joanna Robson ◽  
Sarah Mackie ◽  
Catherine Hill
Keyword(s):  
Clinical Trials ◽  
Patient Reported Outcomes ◽  
Systemic Vasculitis ◽  
Clinical Care ◽  
Large Vessel Vasculitis ◽  
Large Vessel ◽  
Patient Reported ◽  
The Impact ◽  
Large Vessel Vasculitides ◽  
Disease Specific

Abstract Purpose of Review The goal of this paper is to review current and future uses of patient-reported outcomes in large vessel vasculitis. The large vessel vasculitides comprise Giant Cell Arteritis and Takayasu arteritis; both are types of systemic vasculitis which affect the larger blood vessels. Patient-reported outcomes (PROs) capture the impact of these diseases on health-related quality of life. Recent Findings Generic PROs such as the SF-36 are currently used to compare HRQOL of people with GCA and TAK within clinical trials and observational studies and to make comparisons with the general population and HRQoL in other diseases. The development of a disease-specific PRO for GCA is currently underway. Beyond clinical trials, there is much interest in the use of PROs within routine clinical care, particularly E-PROs for remote use. Summary Further work will be needed to complete the development of disease-specific PROs for people with large vessel vasculitis and to establish feasibility, acceptability, and utility of E-PROs.

Sign in / Sign up

Export Citation Format

Share Document