Polymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus.

<h4>Background</h4>Lupus erythematosus (LE) is a heterogeneous disease ranging from mainly skin-restricted manifestations (discoid LE [DLE] and subacute cutaneous LE) to a progressive multisystem disease (systemic LE [SLE]). Genetic association studies have recently identified several st...

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Autores principales:	Tiina M Järvinen, Anna Hellquist, Sari Koskenmies, Elisabet Einarsdottir, Jaana Panelius, Taina Hasan, Heikki Julkunen, Leonid Padyukov, Marika Kvarnström, Marie Wahren-Herlenius, Filippa Nyberg, Mauro D'Amato, Juha Kere, Ulpu Saarialho-Kere
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2010
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/16fcc0b3ff08405e98618d322d8e4736
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spelling	oai:doaj.org-article:16fcc0b3ff08405e98618d322d8e47362021-11-18T07:02:10ZPolymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus.1932-620310.1371/journal.pone.0014212https://doaj.org/article/16fcc0b3ff08405e98618d322d8e47362010-12-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21151989/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Lupus erythematosus (LE) is a heterogeneous disease ranging from mainly skin-restricted manifestations (discoid LE [DLE] and subacute cutaneous LE) to a progressive multisystem disease (systemic LE [SLE]). Genetic association studies have recently identified several strong susceptibility genes for SLE, including integrin alpha M (ITGAM), also known as CD11b, whereas the genetic background of DLE is less clear.<h4>Principal findings</h4>To specifically investigate whether ITGAM is a susceptibility gene not only for SLE, but also for cutaneous DLE, we genotyped 177 patients with DLE, 85 patients with sporadic SLE, 190 index cases from SLE families and 395 population control individuals from Finland for nine genetic markers at the ITGAM locus. SLE patients were further subdivided by the presence or absence of discoid rash and renal involvement. In addition, 235 Finnish and Swedish patients positive for Ro/SSA-autoantibodies were included in a subphenotype analysis. Analysis of the ITGAM coding variant rs1143679 showed highly significant association to DLE in patients without signs of systemic disease (P-value = 4.73×10(-11), OR = 3.20, 95% CI = 2.23-4.57). Significant association was also detected to SLE patients (P-value = 8.29×10(-6), OR = 2.14, 95% CI = 1.52-3.00), and even stronger association was found when stratifying SLE patients by presence of discoid rash (P-value = 3.59×10(-8), OR = 3.76, 95% CI = 2.29-6.18).<h4>Significance</h4>We propose ITGAM as a novel susceptibility gene for cutaneous DLE. The risk effect is independent of systemic involvement and has an even stronger genetic influence on the risk of DLE than of SLE.Tiina M JärvinenAnna HellquistSari KoskenmiesElisabet EinarsdottirJaana PaneliusTaina HasanHeikki JulkunenLeonid PadyukovMarika KvarnströmMarie Wahren-HerleniusFilippa NybergMauro D'AmatoJuha KereUlpu Saarialho-KerePublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 5, Iss 12, p e14212 (2010)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Tiina M Järvinen Anna Hellquist Sari Koskenmies Elisabet Einarsdottir Jaana Panelius Taina Hasan Heikki Julkunen Leonid Padyukov Marika Kvarnström Marie Wahren-Herlenius Filippa Nyberg Mauro D'Amato Juha Kere Ulpu Saarialho-Kere Polymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus.
description	<h4>Background</h4>Lupus erythematosus (LE) is a heterogeneous disease ranging from mainly skin-restricted manifestations (discoid LE [DLE] and subacute cutaneous LE) to a progressive multisystem disease (systemic LE [SLE]). Genetic association studies have recently identified several strong susceptibility genes for SLE, including integrin alpha M (ITGAM), also known as CD11b, whereas the genetic background of DLE is less clear.<h4>Principal findings</h4>To specifically investigate whether ITGAM is a susceptibility gene not only for SLE, but also for cutaneous DLE, we genotyped 177 patients with DLE, 85 patients with sporadic SLE, 190 index cases from SLE families and 395 population control individuals from Finland for nine genetic markers at the ITGAM locus. SLE patients were further subdivided by the presence or absence of discoid rash and renal involvement. In addition, 235 Finnish and Swedish patients positive for Ro/SSA-autoantibodies were included in a subphenotype analysis. Analysis of the ITGAM coding variant rs1143679 showed highly significant association to DLE in patients without signs of systemic disease (P-value = 4.73×10(-11), OR = 3.20, 95% CI = 2.23-4.57). Significant association was also detected to SLE patients (P-value = 8.29×10(-6), OR = 2.14, 95% CI = 1.52-3.00), and even stronger association was found when stratifying SLE patients by presence of discoid rash (P-value = 3.59×10(-8), OR = 3.76, 95% CI = 2.29-6.18).<h4>Significance</h4>We propose ITGAM as a novel susceptibility gene for cutaneous DLE. The risk effect is independent of systemic involvement and has an even stronger genetic influence on the risk of DLE than of SLE.
format	article
author	Tiina M Järvinen Anna Hellquist Sari Koskenmies Elisabet Einarsdottir Jaana Panelius Taina Hasan Heikki Julkunen Leonid Padyukov Marika Kvarnström Marie Wahren-Herlenius Filippa Nyberg Mauro D'Amato Juha Kere Ulpu Saarialho-Kere
author_facet	Tiina M Järvinen Anna Hellquist Sari Koskenmies Elisabet Einarsdottir Jaana Panelius Taina Hasan Heikki Julkunen Leonid Padyukov Marika Kvarnström Marie Wahren-Herlenius Filippa Nyberg Mauro D'Amato Juha Kere Ulpu Saarialho-Kere
author_sort	Tiina M Järvinen
title	Polymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus.
title_short	Polymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus.
title_full	Polymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus.
title_fullStr	Polymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus.
title_full_unstemmed	Polymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus.
title_sort	polymorphisms of the itgam gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus.
publisher	Public Library of Science (PLoS)
publishDate	2010
url	https://doaj.org/article/16fcc0b3ff08405e98618d322d8e4736
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Polymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus.

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