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Giant cell arteritis (GCA) represents the most common form of primary systemic vasculitis and is frequently associated with comorbidities related to the disease itself or induced by the treatment. Systematically collected data on disease course, treatment and outcomes of GCA remain scarce. The aim of this EULAR Task Force was to identify a core set of items which can easily be collected by experienced clinicians, in order to facilitate collaborative research into the course and outcomes of GCA. A multidisciplinary EULAR task force group of 20 experts including rheumatologists, internists, epidemiologists and patient representatives was assembled. During a 1-day meeting, breakout groups discussed items from a previously compiled collection of parameters describing GCA status and disease course. Feedback from breakout groups was further discussed. Final consensus was achieved by means of several rounds of email discussions after the meeting. A three-round Delphi survey was conducted to determine a core set of parameters including the level of agreement. 117 parameters were regarded as relevant. Potential items were subdivided into the following categories: General, demographics, GCA-related signs and symptoms, other medical conditions and treatment. Possible instruments and assessment intervals were proposed for documentation of each item. To facilitate implementation of the recommendations in clinical care and clinical research, a minimum core set of 50 parameters was agreed. This proposed core set intends to ensure that relevant items from different GCA registries and databases can be compared for the dual purposes of facilitating clinical research and improving clinical care., Competing Interests: Competing interests: JA has or has had research agreements with Abbvie, BMS, MSD, Pfizer, Roche, Astra-Zeneca, Eli Lilly, Samsung Bioepis and UCB, mainly in the context of safety monitoring of biologics via ARTIS. Karolinska Institutet has received remuneration for JA participating in advisory boards arranged by Pfizer and Eli Lilly. HWJB reported serving as coordinating investigator (Roche and SUN) in GCA and GC trials and consultant and speaker for Roche. MCC reported receiving consultation/lecturing fees from Roche, GSK, Novartis, Boehringer-Ingelheim, Vifor and Abbvie and research funding from Kiniksa. MC reported serving as coordinating investigator (Mundipharma, Horizon) and consultant (Mundipharma, Horizon) in PMR trials. BD reported clinical trials design advisory board consultancies (Roche, Servier, GSK, Mundipharma, Pfizer, Merck, Sobi) and unrestricted grant support from Napp and Roche and speakers honoraria from UCB and Merck. CD reported receiving consultancy fees and honoraria from MSD, Pfizer, UCB, AbbVie, Roche, Novartis, Lilly, Celgene, Merck, Sandoz, clinical trials design advisory board consultancies from GSK and an unrestricted grant support from Pfizer and MSD. WGD reported that the University of Manchester has received remuneration for WGD providing consultancy to Bayer. NF is an employee of the Swedish Medical Products Agency (MPA). AF received speaker honoraria or consultancies within the past 5 years from AbbVie, AB2BIO, BMS, Eli-Lilly, MSD, Pfizer, Roche, not related to the submitted work. KG has received consultancy fees from PMRGCAuk re facilitation of patient engagement with medical research in PMR and GCA. SLM has been an investigator for GCA trials (Roche, GSK), has had medical advisory group consultancies (Roche, Sanofi, Chugai) and is a Patron of the charities PMRGCAuk and PMR and GCA North East. AM reported receiving consultancy fees and honoraria from Roche-Chugai. EM reported serving as coordinating investigator (Novartis) and consultant (Glaxo-Smith-Kline) in PMR trials, consultant (Glaxo-Smith-Kline, Endocyte) and as site investigator in GCA trials (Bristol Meyer Squibb, Hoffman-La Roche, Genentech, Glaxo-Smith-Kline) and editor, contributor for PMR/GCA (UpToDate, Paradigm). CS reported serving as coordinating investigator (Roche) and consultant (Roche) in GCA trials. WAS reported receiving consultancy fees, honoraria and a grant support from Roche, consultancy fees and honoraria from GlaxoSmithKline and consultancy fees from Sanofi. He was principle investigator in a GCA trial (GlaxoSmithKline). AS received speaker honoraria within the past 5 years from AbbVie, BMS, Lilly, MSD, Pfizer, Roche, Sanofi-Aventis and UCB outside the submitted work. RFvV reported receiving research support and grants from AbbVie, BMS, GSK, Pfizer and UCB. He served as consultant for AbbVie, AstraZeneca, Biotest, BMS, Celgene, Crescendo, GSK, Janssen, Lilly, Merck, Novartis, Pfizer, Roche and UCB. FB reported receiving consultancy fees, honoraria and travel expenses from Horizon Pharma (formerly Nitec Pharma), Mundipharma Int. Ltd, Roche and Galapagos and grant support from Horizon Pharma. He serves as co-principal investigator and site investigator in a Mundipharma sponsored trial in PMR investigating the effects of MR prednisone., (© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: The TNFSF13B (TNF superfamily member 13b) gene encodes BAFF, a cytokine with a crucial role in the differentiation and activation of B cells. An insertion-deletion variant (GCTGT→A) of this gene, leading to increased levels of BAFF, has been recently implicated in the genetic predisposition to several autoimmune diseases, including multiple sclerosis, systemic lupus erythematosus, and rheumatoid arthritis. Based on the elevated levels of this cytokine found in patients with giant cell arteritis (GCA) and systemic sclerosis (SSc), we aimed to assess whether this functional variant also represents a novel genetic risk factor for these two disorders., Methods: A total of 1,728 biopsy-proven GCA patients from 4 European cohorts, 4,584 SSc patients from 3 European cohorts and 5,160 ethnically-matched healthy controls were included in the study. The single nucleotide polymorphism (SNP) rs374039502, which colocalizes with the genetic variant previously implicated in autoimmunity, was genotyped using a custom TaqMan assay. First, association analysis was conducted in each independent cohort using χ2 test in Plink (v1.9). Subsequently, different case/control sets were meta-analyzed by the inverse variance method., Results: No statistically significant differences were found when allele distributions were compared between cases and controls for any of the analyzed cohorts. Similarly, combined analysis of the different sets evidenced a lack of association of the rs374039502 variant with GCA (P = 0.421; OR (95% CI) = 0.92 (0.75-1.13)) and SSc (P = 0.500; OR (95% CI) = 1.05 (0.91-1.22)). The stratified analysis considering the main clinical subphenotypes of these diseases yielded similar negative results., Conclusion: Our data suggest that the TNFSF13B functional variant does not contribute to the genetic network underlying GCA and SSc., Competing Interests: The authors declare that they have no competing interests.

Giant cell arteritis (GCA) is the most common form of vasculitis in individuals older than 50 years in Western countries. To shed light onto the genetic background influencing susceptibility for GCA, we performed a genome-wide association screening in a well-powered study cohort. After imputation, 1,844,133 genetic variants were analyzed in 2,134 case subjects and 9,125 unaffected individuals from ten independent populations of European ancestry. Our data confirmed HLA class II as the strongest associated region (independent signals: rs9268905, p = 1.94 × 10 -54 , per-allele OR = 1.79; and rs9275592, p = 1.14 × 10 -40 , OR = 2.08). Additionally, PLG and P4HA2 were identified as GCA risk genes at the genome-wide level of significance (rs4252134, p = 1.23 × 10 -10 , OR = 1.28; and rs128738, p = 4.60 × 10 -9 , OR = 1.32, respectively). Interestingly, we observed that the association peaks overlapped with different regulatory elements related to cell types and tissues involved in the pathophysiology of GCA. PLG and P4HA2 are involved in vascular remodelling and angiogenesis, suggesting a high relevance of these processes for the pathogenic mechanisms underlying this type of vasculitis., (Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)