The genetics of Psoriatic Arthritis
Thesis (Ph.D.)--Memorial University of Newfoundland, 2010. Medicine Includes bibliographical references (leaves 216-293) Psoriasis is a stubborn chronic skin disease affecting 1-3% of the population. Although not life threatening, it may be associated with important morbidity and disability. Psoriat...
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ftmemorialunivdc:oai:collections.mun.ca:theses4/94910 2023-05-15T17:23:33+02:00 The genetics of Psoriatic Arthritis Butt, Christopher D., 1975- Memorial University of Newfoundland. Faculty of Medicine 2009 xiv, 159 leaves : col. ill. Image/jpeg; Application/pdf http://collections.mun.ca/cdm/ref/collection/theses4/id/94910 Eng eng Electronic Theses and Dissertations (33.79 MB) -- http://collections.mun.ca/PDFs/theses/Butt_ChristopherD.pdf a3315202 http://collections.mun.ca/cdm/ref/collection/theses4/id/94910 The author retains copyright ownership and moral rights in this thesis. Neither the thesis nor substantial extracts from it may be printed or otherwise reproduced without the author's permission. Paper copy kept in the Centre for Newfoundland Studies, Memorial University Libraries Major histocompatibility complex--Genetic aspects Psoriatic arthritis--Etiology Psoriatic arthritis--Genetic aspects Arthritis Psoriatic--etiology Psoriatic--genetics Major Histocompatibility Complex--genetics Text Electronic thesis or dissertation 2009 ftmemorialunivdc 2015-08-06T19:22:11Z Thesis (Ph.D.)--Memorial University of Newfoundland, 2010. Medicine Includes bibliographical references (leaves 216-293) Psoriasis is a stubborn chronic skin disease affecting 1-3% of the population. Although not life threatening, it may be associated with important morbidity and disability. Psoriatic Arthritis (PsA), an immunologically mediated disease, is an inflammatory form of arthritis usually seronegative for rheumatoid factor, which may affect as many as 30% of patients with psoriasis, thus up to 1% of the population may have PsA. Whereas the prevalence of inflammatory arthritis in the general population is estimated at 2 to 3%, in patients with psoriasis the prevalence of inflammatory arthritis varies from 6 to 42%. PsA is highly heritable with the risk ratio for siblings of PsA patients estimated at 30.8 times that of the general population. PsA is T-cell driven disorder and the pathogenesis derives from multiple processes including synovial and entheseal inflammation, angiogenesis, and altered bone remodelling. -- Association studies have repeatedly implicated the HLA-Cw*0602 loci of the Major Histocompatibility Complex (MHC) in the aetiology of PsA. Numerous other genes from several pathways have also been implicated in PsA. Using the unique population resource of Newfoundland, and a validation cohort from Toronto, it has been observed that there is an association between PsA and the MHC genes TNF-a and MICA. For the first time, an association has also been observed between PsA and the pro-angiogenic genes VEGF and PPARy. An association was also observed with the pleiotropic autoimmune gene PTPN22, and for the first time epistatic gene-gene interactions have been observed in PsA via a novel algorithm, adding further evidence to the central involvement of IL-23R in PsA. Thesis Newfoundland studies University of Newfoundland Memorial University of Newfoundland: Digital Archives Initiative (DAI) |
institution |
Open Polar |
collection |
Memorial University of Newfoundland: Digital Archives Initiative (DAI) |
op_collection_id |
ftmemorialunivdc |
language |
English |
topic |
Major histocompatibility complex--Genetic aspects Psoriatic arthritis--Etiology Psoriatic arthritis--Genetic aspects Arthritis Psoriatic--etiology Psoriatic--genetics Major Histocompatibility Complex--genetics |
spellingShingle |
Major histocompatibility complex--Genetic aspects Psoriatic arthritis--Etiology Psoriatic arthritis--Genetic aspects Arthritis Psoriatic--etiology Psoriatic--genetics Major Histocompatibility Complex--genetics Butt, Christopher D., 1975- The genetics of Psoriatic Arthritis |
topic_facet |
Major histocompatibility complex--Genetic aspects Psoriatic arthritis--Etiology Psoriatic arthritis--Genetic aspects Arthritis Psoriatic--etiology Psoriatic--genetics Major Histocompatibility Complex--genetics |
description |
Thesis (Ph.D.)--Memorial University of Newfoundland, 2010. Medicine Includes bibliographical references (leaves 216-293) Psoriasis is a stubborn chronic skin disease affecting 1-3% of the population. Although not life threatening, it may be associated with important morbidity and disability. Psoriatic Arthritis (PsA), an immunologically mediated disease, is an inflammatory form of arthritis usually seronegative for rheumatoid factor, which may affect as many as 30% of patients with psoriasis, thus up to 1% of the population may have PsA. Whereas the prevalence of inflammatory arthritis in the general population is estimated at 2 to 3%, in patients with psoriasis the prevalence of inflammatory arthritis varies from 6 to 42%. PsA is highly heritable with the risk ratio for siblings of PsA patients estimated at 30.8 times that of the general population. PsA is T-cell driven disorder and the pathogenesis derives from multiple processes including synovial and entheseal inflammation, angiogenesis, and altered bone remodelling. -- Association studies have repeatedly implicated the HLA-Cw*0602 loci of the Major Histocompatibility Complex (MHC) in the aetiology of PsA. Numerous other genes from several pathways have also been implicated in PsA. Using the unique population resource of Newfoundland, and a validation cohort from Toronto, it has been observed that there is an association between PsA and the MHC genes TNF-a and MICA. For the first time, an association has also been observed between PsA and the pro-angiogenic genes VEGF and PPARy. An association was also observed with the pleiotropic autoimmune gene PTPN22, and for the first time epistatic gene-gene interactions have been observed in PsA via a novel algorithm, adding further evidence to the central involvement of IL-23R in PsA. |
author2 |
Memorial University of Newfoundland. Faculty of Medicine |
format |
Thesis |
author |
Butt, Christopher D., 1975- |
author_facet |
Butt, Christopher D., 1975- |
author_sort |
Butt, Christopher D., 1975- |
title |
The genetics of Psoriatic Arthritis |
title_short |
The genetics of Psoriatic Arthritis |
title_full |
The genetics of Psoriatic Arthritis |
title_fullStr |
The genetics of Psoriatic Arthritis |
title_full_unstemmed |
The genetics of Psoriatic Arthritis |
title_sort |
genetics of psoriatic arthritis |
publishDate |
2009 |
url |
http://collections.mun.ca/cdm/ref/collection/theses4/id/94910 |
genre |
Newfoundland studies University of Newfoundland |
genre_facet |
Newfoundland studies University of Newfoundland |
op_source |
Paper copy kept in the Centre for Newfoundland Studies, Memorial University Libraries |
op_relation |
Electronic Theses and Dissertations (33.79 MB) -- http://collections.mun.ca/PDFs/theses/Butt_ChristopherD.pdf a3315202 http://collections.mun.ca/cdm/ref/collection/theses4/id/94910 |
op_rights |
The author retains copyright ownership and moral rights in this thesis. Neither the thesis nor substantial extracts from it may be printed or otherwise reproduced without the author's permission. |
_version_ |
1766113285474615296 |