Date: Sunday, October 21, 2018
Session Title: Rheumatoid Arthritis – Etiology and Pathogenesis Poster I
Session Type: ACR Poster Session A
Session Time: 9:00AM-11:00AM
Background/Purpose: Cardiovascular (CV) disease is the most common cause of morbidity and mortality in patients with rheumatoid arthritis (RA) [1, 2]. Traditional CV risk factors and chronic inflammation do not fully explain the increased CV predisposition observed in patients with RA . In this regard, cumulative knowledge suggests that genetic factors may play a relevant role in this phenomenon . To shed light onto the genetic background influencing the development of CV disease in patients with RA, we performed a genome-wide association study (GWAS) in a cohort of Spanish patients diagnosed with this condition.
Methods: After quality control filters, 2,989 Spanish patients with RA who fulfilled the 2010 American College of Rheumatology classification criteria  were analyzed. In addition, data on subclinical atherosclerosis, obtained by carotid ultrasonography (by assessment of carotid intima-media thickness-cIMT-and presence/absence of carotid plaques), was available for 1,355 of these patients.
Results: rs116199914 was identified as an intergenic variant associated with cIMT values at the genome-wide level of significance (minor allele (G): β=0.142, P=1.86E-08). In addition, suggestive signals of potential relevance were observed when both the presence/absence of CV events and subclinical atherosclerosis were evaluated, although none of them reached the genome-wide level of significance. Finally, a molecular pathway enrichment and a predictive protein-protein relationship analyses, including these suggestive GWAS signals, revealed a potential functional enrichment of the collagen biosynthesis network regarding the presence/absence of carotid plaques (GO:0032964, P=0.0497).
Conclusion: Our study suggests that the rs116199914 genetic variant is implicated in the increased CV risk observed in Spanish patients with RA.
 Arthritis Rheum 2007;57:125-32;  Best Pract Res Clin Rheumatol 2016;30:851-69;  Ann Rheum Dis 2018;77:48-54;  Autoimmun Rev 2016;15:1013-30;  Arthritis Rheum 2010;62:2569-81.
This study was supported by European Union FEDER funds and “Fondo de Investigación Sanitaria” (PI15/00525) from ‘Instituto de Salud Carlos III’ (ISCIII, Health Ministry, Spain). It was also partially supported by RETICS Program RD16/0012 (RIER) from ISCIII. RL-M is a recipient of a Miguel Servet type I programme fellowship from the ISCIII, co-funded by the European Social Fund (ESF, “Investing in your future”) (grant CP16/00033). FG is a recipient of a Sara Borrell post-doctoral fellowship from the ISCIII, co-funded by the ESF (grant CD15/00095). SR-M is supported by funds of the RETICS Program (RD16/0012/0009), co-funded by the European Regional Development Fund, ERDF. FDC was supported by the Ramón y Cajal programme of the Spanish Ministry of Economy and Competitiveness (RYC-2014-16458). VP-C is supported by funds of IDIVAL (PREVAL18/01). VM is supported by funds of a Miguel Servet type I programme (CP16/00033) (ISCIII, co-funded by ERDF).
To cite this abstract in AMA style:Lopez-Mejías R, Genre F, Remuzgo-Martínez S, Carmona D, Pulito-Cueto V, González-Juanatey C, Corrales A, Vicente E, Miranda-Filloy JA, Tejera BS, Ramírez Huaranga MA, Mijares V, Lera-Gomez L, Blanco R, Robustillo-Villarino M, Rodríguez-Carrio J, Suárez A, Alperi-López M, Ballina-García FJ, López Longo FJ, Narváez FJ, Alegre JJ, Mera A, Perez Pampín E, Gonzalez A, Raya Álvarez E, López-Pedrera C, Gomez Vaquero C, Balsa A, Pascual-Salcedo D, Carreira P, Gonzalez-Alvaro I, Rodriguez Rodriguez L, Fernandez Gutierrez B, Ferraz-Amaro I, Castañeda S, Martin J, Llorca J, González-Gay MA. A Genome-Wide Association Study Identifies rs116199914 As an Intergenic Variant Associated with Carotid Intima-Media Thickness in Spanish Patients with Rheumatoid Arthritis [abstract]. Arthritis Rheumatol. 2018; 70 (suppl 10). https://acrabstracts.org/abstract/a-genome-wide-association-study-identifies-rs116199914-as-an-intergenic-variant-associated-with-carotid-intima-media-thickness-in-spanish-patients-with-rheumatoid-arthritis/. Accessed July 9, 2020.
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ACR Meeting Abstracts - https://acrabstracts.org/abstract/a-genome-wide-association-study-identifies-rs116199914-as-an-intergenic-variant-associated-with-carotid-intima-media-thickness-in-spanish-patients-with-rheumatoid-arthritis/