Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis

Autor: Martin Kerick, Marialbert Acosta-Herrera, Carmen Pilar Simeón-Aznar, José Luis Callejas, Shervin Assassi, International SSc Group, Susanna M. Proudman, Mandana Nikpour, Australian Scleroderma Interest Group (ASIG), PRECISESADS Clinical Consortium, Nicolas Hunzelmann, Gianluca Moroncini, Jeska K. de Vries-Bouwstra, Gisela Orozco, Anne Barton, Ariane L. Herrick, Chikashi Terao, Yannick Allanore, Carmen Fonseca, Marta Eugenia Alarcón-Riquelme, Timothy R. D. J. Radstake, Lorenzo Beretta, Christopher P. Denton, Maureen D. Mayes, Javier Martin

Publikováno v: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)

Abstract Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. We investigated the association of C4 CN with systemic sclerosis (SSc) risk. Imputed total C4, C4A, C4B, and HERV-K C

Externí odkaz: https://doaj.org/article/bc1f849f269a49ad8114bddf64958fc9

Development and Initial Validation of the Novel Scleroderma Clinical Trials Consortium Activity Index.

Autor: Ross L; University of Melbourne and St Vincent's Hospital Melbourne, Fitzroy, Victoria, Australia., Hansen D; St Vincent's Hospital Melbourne, Fitzroy, Victoria, Australia., Proudman S; Royal Adelaide Hospital and University of Adelaide, South Australia, Australia., Khanna D; University of Michigan, Ann Arbor., Herrick AL; The University of Manchester, Northern Care Alliance NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Stevens W; St Vincent's Hospital Melbourne, Fitzroy, Victoria, Australia., Baron M; Jewish General Hospital, McGill University, Montreal, Quebec, Canada., Nikpour M; University of Melbourne and St Vincent's Hospital Melbourne, Fitzroy, Victoria, Australia; Sydney Musculoskeletal Research Flagship Centre (University of Sydney), University of Sydney School of Public Health, Sydney, New South Wales, and Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.

Publikováno v: Arthritis & rheumatology (Hoboken, N.J.) [Arthritis Rheumatol] 2024 Nov; Vol. 76 (11), pp. 1635-1644. Date of Electronic Publication: 2024 Aug 26.

Survival and quality of life in incident systemic sclerosis-related pulmonary arterial hypertension

Autor: Kathleen Morrisroe, Wendy Stevens, Molla Huq, David Prior, Jo Sahhar, Gene-Siew Ngian, David Celermajer, Jane Zochling, Susanna Proudman, Mandana Nikpour, the Australian Scleroderma Interest Group (ASIG)

Publikováno v: Arthritis Research & Therapy, Vol 19, Iss 1, Pp 1-10 (2017)

Abstract Background Pulmonary arterial hypertension (PAH) is a leading cause of mortality in systemic sclerosis (SSc). We sought to determine survival, predictors of mortality, and health-related quality of life (HRQoL) related to PAH in a large SSc

Externí odkaz: https://doaj.org/article/d4c8d23868d749c08a685327102dcc3c

The Effect of Body Fat Distribution on Systemic Sclerosis

Autor: Gonzalo Villanueva-Martin, Marialbert Acosta-Herrera, Martin Kerick, Elena López-Isac, Carmen P. Simeón, José L. Callejas, Shervin Assassi, Lorenzo Beretta, International SSc Group, Australian Scleroderma Interest Group (ASIG), Yannick Allanore, Susanna M. Proudman, Mandana Nikpour, Carmen Fonseca, Christopher P. Denton, Timothy R. D. J. Radstake, Maureen D. Mayes, Xia Jiang, Javier Martin, Lara Bossini-Castillo

Publikováno v: Journal of Clinical Medicine; Volume 11; Issue 20; Pages: 6014
Scientia

Obesity contributes to a chronic proinflammatory state, which is a known risk factor to develop immune-mediated diseases. However, its role in systemic sclerosis (SSc) remains to be elucidated. Therefore, we conducted a two-sample mendelian randomiza

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::856128eea4154bcf6a879625be3831a5
https://www.mdpi.com/2077-0383/11/20/6014/pdf?version=1666753836

GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

Autor: López-Isac, E., Acosta-Herrera, M., Kerick, M., Assassi, S., Satpathy, A.T., Granja, J., Mumbach, M.R., Beretta, L., Simeón, C.P., Carreira, P., Ortego-Centeno, N., Castellvi, I., Bossini-Castillo, L., Carmona, F.D., Orozco, G., Hunzelmann, N., Distler, J.H.W., Franke, A., Lunardi, C., Moroncini, G., Gabrielli, A., de Vries-Bouwstra, J., Wijmenga, C., Koeleman, B.P.C., Nordin, A., Padyukov, L., Hoffmann-Vold, A.-M., Lie, B., Ríos, R., Callejas, J.L., Vargas-Hitos, J.A., García-Portales, R., Camps, M.T., Fernández-Nebro, A., González-Escribano, M.F., García-Hernández, F.J., Castillo, M.J., Aguirre, M.A., Gómez-Gracia, I., Fernández-Gutiérrez, B., Rodríguez-Rodríguez, L., García de la Peña, P., Vicente, E., Andreu, J.L., Fernández de Castro, M., López-Longo, F.J., Martínez, L., Fonollosa, V., Guillén, A., Espinosa, G., Tolosa, C., Pros, A., Rodríguez-Carballeira, M., Narváez, F.J., Rubio-Rivas, M., Ortiz-Santamaría, V, Madroñero, A.B., González-Gay, M.A., Díaz, B., Trapiella, L., Sousa, A., Egurbide, M.V., Fanlo-Mateo, P., Sáez-Comet, L., Díaz, F., Hernández, V, Beltrán, E., Román-Ivorra, J.A., Grau E., Alegre-Sancho, J.J., Freire, M., Blanco-García, F.J., Oreiro, N., Witte, T., Kreuter, A., Riemekasten, G., Airó P., Magro, C., Voskuyl, A.E., Vonk, M.C., Hesselstrand, R., Proudman S., Stevens, W., Nikpour, M., Zochling, J., Sahhar, J., Roddy, J., Nash, P., Tymms, K., Rischmueller, M., Lester, S., Vyse, T., Herrick, A.L., Worthington, J., Denton C.P., Allanore, Y., Brown, M.A., Radstake, T.R.D.J., Fonseca, C., Chang H.Y., Mayes, M.D., Martin, J., European Scleroderma Group, Australian Scleroderma Interest Group (ASIG)

Publikováno v: Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Nature Communications, 10. NATURE PUBLISHING GROUP
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Digibug. Repositorio Institucional de la Universidad de Granada
Digital.CSIC. Repositorio Institucional del CSIC
Orozco, G & Worthington, J 2019, ' GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways ', Nature Communications, vol. 10, 4955 . https://doi.org/10.1038/s41467-019-12760-y
Nat Commun . 2019 Oct 31;10(1):4955
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
RUC. Repositorio da Universidade da Coruña
López-Isac, E, Acosta-Herrera, M, Kerick, M, Assassi, S, Satpathy, A T, Granja, J, Mumbach, M R, Beretta, L, Simeón, C P, Carreira, P, Ortego-Centeno, N, Castellvi, I, Bossini-Castillo, L, Carmona, F D, Orozco, G, Hunzelmann, N, Distler, J R H W, Franke, A, Lunardi, C, Moroncini, G, Gabrielli, A, de Vries-Bouwstra, J, Wijmenga, C, Koeleman, B P C, Nordin, A, Padyukov, L, Hoffmann-Vold, A-M, Lie, B, Ríos, R, Callejas, J L, Vargas-Hitos, J A, García-Portales, R, Camps, M T, Fernández-Nebro, A, González-Escribano, M F, García-Hernández, F J, Castillo, M J, Aguirre, M A, Gómez-Gracia, I, Fernández-Gutiérrez, B, Rodríguez-Rodríguez, L, García de la Peña, P, Vicente, E, Andreu, J L, Fernández de Castro, M, López-Longo, F J, Martínez, L, Fonollosa,, Voskuyl, A E, European Scleroderma Group†, Australian Scleroderma Interest Group (ASIG) & Voskuyl, A E 2019, ' GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways ', Nature Communications, vol. 10, no. 1, 4955 . https://doi.org/10.1038/s41467-019-12760-y
Scientia
Nature Communications, 10(1):4955. Nature Publishing Group
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Nature Communications
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-FISABIO. Repositorio Institucional de Producción Científica

Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a10e7153ec16c30a2d998be1d40f8a7
https://doi.org/10.1038/s41467-019-12760-y