On the origin of rheumatoid arthritis: the impact of environment and genes--a population based twin study.

<h4>Background</h4>Rheumatoid arthritis (RA) is an autoimmune disease with a complex origin. Previous studies have reported heritability estimates on RA at about 60%. Only 16% of the genetic background of the disease has been disclosed so far. The purpose of the present investigation was...

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Autores principales: Anders J Svendsen, Kirsten O Kyvik, Gunnar Houen, Peter Junker, Kaare Christensen, Lene Christiansen, Christian Nielsen, Axel Skytthe, Jacob V Hjelmborg
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spelling oai:doaj.org-article:f1f3d1c9f4c74518b133e0e87d5b5d822021-11-18T07:55:33ZOn the origin of rheumatoid arthritis: the impact of environment and genes--a population based twin study.1932-620310.1371/journal.pone.0057304https://doaj.org/article/f1f3d1c9f4c74518b133e0e87d5b5d822013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23468964/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Rheumatoid arthritis (RA) is an autoimmune disease with a complex origin. Previous studies have reported heritability estimates on RA at about 60%. Only 16% of the genetic background of the disease has been disclosed so far. The purpose of the present investigation was to provide an optimized estimate on the heritability of RA and to study the recurrence risk in a nationwide Caucasian twin population.<h4>Methods and findings</h4>In a mail survey addressed to 56.707 twin individuals, RA was reported by 479 individuals, mean age 52 (range 16-73). Respondents underwent an interview and clinical examination. Ascertainment probability was 80%. RA was confirmed in 162 twin individuals yielding a prevalence at 0.37% (95% CI 0.31-0.43). The mean discordance time was 19 years (range 0-57). The concordance was 9.1% (95% CI 1.9 to 24.3) in MZ, 6.4% (95% CI 2.1 to 14.3) in DZss. The increased relative risk of attracting RA conditioned on having an affected cotwin compared to the background population risk was 24.6 to 35.4 in MZ twins and 17.3 to 31.6 in DZss twins. The correlation coefficients were 0.60 (0.33 to 0.78) in monozygotic (MZ) and 0.55 (0.33 to 0.72) in dizygotic same sexed (DZss) pairs. Twelve percent (95% CI 0-76%) of the phenotypic variance in the liability to RA was due to additive genetic effects, 50% (95% CI 0-72%) to shared environmental effects and 38% (95% CI 17-61%) to non-shared environmental effects.<h4>Conclusions</h4>This study emphasizes that family factors are important for the development of RA. Although genetic effectors are important, shared and non-shared environmental triggers and/or epigenetic stochastic events seem to be even more significant. However, it should be borne in mind that the genetic and non-genetic components may not be the same across disease subsets.Anders J SvendsenKirsten O KyvikGunnar HouenPeter JunkerKaare ChristensenLene ChristiansenChristian NielsenAxel SkyttheJacob V HjelmborgPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 2, p e57304 (2013)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Anders J Svendsen
Kirsten O Kyvik
Gunnar Houen
Peter Junker
Kaare Christensen
Lene Christiansen
Christian Nielsen
Axel Skytthe
Jacob V Hjelmborg
On the origin of rheumatoid arthritis: the impact of environment and genes--a population based twin study.
description <h4>Background</h4>Rheumatoid arthritis (RA) is an autoimmune disease with a complex origin. Previous studies have reported heritability estimates on RA at about 60%. Only 16% of the genetic background of the disease has been disclosed so far. The purpose of the present investigation was to provide an optimized estimate on the heritability of RA and to study the recurrence risk in a nationwide Caucasian twin population.<h4>Methods and findings</h4>In a mail survey addressed to 56.707 twin individuals, RA was reported by 479 individuals, mean age 52 (range 16-73). Respondents underwent an interview and clinical examination. Ascertainment probability was 80%. RA was confirmed in 162 twin individuals yielding a prevalence at 0.37% (95% CI 0.31-0.43). The mean discordance time was 19 years (range 0-57). The concordance was 9.1% (95% CI 1.9 to 24.3) in MZ, 6.4% (95% CI 2.1 to 14.3) in DZss. The increased relative risk of attracting RA conditioned on having an affected cotwin compared to the background population risk was 24.6 to 35.4 in MZ twins and 17.3 to 31.6 in DZss twins. The correlation coefficients were 0.60 (0.33 to 0.78) in monozygotic (MZ) and 0.55 (0.33 to 0.72) in dizygotic same sexed (DZss) pairs. Twelve percent (95% CI 0-76%) of the phenotypic variance in the liability to RA was due to additive genetic effects, 50% (95% CI 0-72%) to shared environmental effects and 38% (95% CI 17-61%) to non-shared environmental effects.<h4>Conclusions</h4>This study emphasizes that family factors are important for the development of RA. Although genetic effectors are important, shared and non-shared environmental triggers and/or epigenetic stochastic events seem to be even more significant. However, it should be borne in mind that the genetic and non-genetic components may not be the same across disease subsets.
format article
author Anders J Svendsen
Kirsten O Kyvik
Gunnar Houen
Peter Junker
Kaare Christensen
Lene Christiansen
Christian Nielsen
Axel Skytthe
Jacob V Hjelmborg
author_facet Anders J Svendsen
Kirsten O Kyvik
Gunnar Houen
Peter Junker
Kaare Christensen
Lene Christiansen
Christian Nielsen
Axel Skytthe
Jacob V Hjelmborg
author_sort Anders J Svendsen
title On the origin of rheumatoid arthritis: the impact of environment and genes--a population based twin study.
title_short On the origin of rheumatoid arthritis: the impact of environment and genes--a population based twin study.
title_full On the origin of rheumatoid arthritis: the impact of environment and genes--a population based twin study.
title_fullStr On the origin of rheumatoid arthritis: the impact of environment and genes--a population based twin study.
title_full_unstemmed On the origin of rheumatoid arthritis: the impact of environment and genes--a population based twin study.
title_sort on the origin of rheumatoid arthritis: the impact of environment and genes--a population based twin study.
publisher Public Library of Science (PLoS)
publishDate 2013
url https://doaj.org/article/f1f3d1c9f4c74518b133e0e87d5b5d82
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