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Familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families

BACKGROUND: Systemic sclerosis (SSc) is a rare and devastating disease affecting skin and internal organs. Familial aggregation of SSc and co-aggregation with other autoimmune diseases is rarely reported. METHODS: We identified 23,658,577 beneficiaries registered with the National Health Insurance d...

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Autores principales: Kuo, Chang-Fu, Luo, Shue-Fen, Yu, Kuang-Hui, See, Lai-Chu, Zhang, Weiya, Doherty, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059914/
https://www.ncbi.nlm.nih.gov/pubmed/27729087
http://dx.doi.org/10.1186/s13075-016-1127-6
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author Kuo, Chang-Fu
Luo, Shue-Fen
Yu, Kuang-Hui
See, Lai-Chu
Zhang, Weiya
Doherty, Michael
author_facet Kuo, Chang-Fu
Luo, Shue-Fen
Yu, Kuang-Hui
See, Lai-Chu
Zhang, Weiya
Doherty, Michael
author_sort Kuo, Chang-Fu
collection PubMed
description BACKGROUND: Systemic sclerosis (SSc) is a rare and devastating disease affecting skin and internal organs. Familial aggregation of SSc and co-aggregation with other autoimmune diseases is rarely reported. METHODS: We identified 23,658,577 beneficiaries registered with the National Health Insurance database in 2010, 1891 of whom had SSc. We identified 21,009,551 parent–child relationships and 17,168,340 full sibling pairs. The familial risks of SSc and other autoimmune diseases and familial transmission were estimated. RESULTS: The prevalence of SSc in the general population was 0.008 %. There are 3801 individuals had at least one first-degree relative with SSc, among them 3 people had SSc which was equivalent to a prevalence of 0.08 %. The adjusted relative risk (RR) (95 % CI) for SSc was 81.21 (11.40–579.72) for siblings of SSc patients. The familial transmission (genetic plus shared environmental contribution to total phenotypic variance of SSc) was 0.72. However, 84.1 % of patients were expected to be sporadic cases. The RR (95 % CI) in first-degree relatives of SSc patients was 2.64 (1.46–4.75) for rheumatoid arthritis, 6.51 (4.05–10.46) for systemic lupus erythematosus, 2.77 (1.04–7.35) for Sjögren’s syndrome, 8.05 (2.03–31.92) for idiopathic inflammatory myositis, and 1.52 (1.15–2.01) for psoriasis. CONCLUSIONS: The risks of SSc and other autoimmune diseases are increased in relatives of people with SSc, and family factors explain over two-thirds of the phenotypic variance of the disease. These findings may be useful in counselling families of patients with SSc and for further genetic studies.
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spelling pubmed-50599142016-10-24 Familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families Kuo, Chang-Fu Luo, Shue-Fen Yu, Kuang-Hui See, Lai-Chu Zhang, Weiya Doherty, Michael Arthritis Res Ther Research Article BACKGROUND: Systemic sclerosis (SSc) is a rare and devastating disease affecting skin and internal organs. Familial aggregation of SSc and co-aggregation with other autoimmune diseases is rarely reported. METHODS: We identified 23,658,577 beneficiaries registered with the National Health Insurance database in 2010, 1891 of whom had SSc. We identified 21,009,551 parent–child relationships and 17,168,340 full sibling pairs. The familial risks of SSc and other autoimmune diseases and familial transmission were estimated. RESULTS: The prevalence of SSc in the general population was 0.008 %. There are 3801 individuals had at least one first-degree relative with SSc, among them 3 people had SSc which was equivalent to a prevalence of 0.08 %. The adjusted relative risk (RR) (95 % CI) for SSc was 81.21 (11.40–579.72) for siblings of SSc patients. The familial transmission (genetic plus shared environmental contribution to total phenotypic variance of SSc) was 0.72. However, 84.1 % of patients were expected to be sporadic cases. The RR (95 % CI) in first-degree relatives of SSc patients was 2.64 (1.46–4.75) for rheumatoid arthritis, 6.51 (4.05–10.46) for systemic lupus erythematosus, 2.77 (1.04–7.35) for Sjögren’s syndrome, 8.05 (2.03–31.92) for idiopathic inflammatory myositis, and 1.52 (1.15–2.01) for psoriasis. CONCLUSIONS: The risks of SSc and other autoimmune diseases are increased in relatives of people with SSc, and family factors explain over two-thirds of the phenotypic variance of the disease. These findings may be useful in counselling families of patients with SSc and for further genetic studies. BioMed Central 2016-10-12 2016 /pmc/articles/PMC5059914/ /pubmed/27729087 http://dx.doi.org/10.1186/s13075-016-1127-6 Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Kuo, Chang-Fu
Luo, Shue-Fen
Yu, Kuang-Hui
See, Lai-Chu
Zhang, Weiya
Doherty, Michael
Familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families
title Familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families
title_full Familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families
title_fullStr Familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families
title_full_unstemmed Familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families
title_short Familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families
title_sort familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059914/
https://www.ncbi.nlm.nih.gov/pubmed/27729087
http://dx.doi.org/10.1186/s13075-016-1127-6
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