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Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases

Many autoimmune diseases (ADs) share similar underlying pathology and have a tendency to cluster within families, supporting the involvement of shared susceptibility genes. To date, most of the genetic variants associated with systemic lupus erythematosus (SLE) susceptibility also show association w...

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Autores Principales:	Anaya, Juan-Manuel, Kim-Howard, Xana, Prahalad, Sampath, Cherñavsky, Alejandra, Cañas, Carlos, Rojas-Villarraga, Adriana, Bohnsack, John, Jonsson, Roland, Bolstad, Anne Isine, Brun, Johan G., Cobb, Beth, Moser, Kathy L., James, Judith A., Harley, John B., Nath, Swapan K.
Formato:	Artículo (Article)
Lenguaje:	Inglés (English)
Publicado:	2012
Materias:	Alpha integrin Alpha integrin m Unclassified drug Autoimmune disease Celiac disease Ethnicity Genetic association Genetic variability Genotype Human Insulin dependent diabetes mellitus Juvenile rheumatoid arthritis Power analysis Review Rheumatoid arthritis Risk Single nucleotide polymorphism Sjoegren syndrome Statistical analysis Systemic lupus erythematosus Systemic sclerosis Autoimmune diseases Dna mutational analysis Europe Gene frequency Genetic association studies Genetic predisposition to disease Humans Latin america Genetic susceptibility Itgam single nucleotide cd11b Antigens Polymorphism
Acceso en línea:	https://repository.urosario.edu.co/handle/10336/23144 https://doi.org/10.1016/j.autrev.2011.07.007

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recordtype	dspace
spelling	ir-10336-231442022-05-02T12:37:13Z Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases Anaya, Juan-Manuel Kim-Howard, Xana Prahalad, Sampath Cherñavsky, Alejandra Cañas, Carlos Rojas-Villarraga, Adriana Bohnsack, John Jonsson, Roland Bolstad, Anne Isine Brun, Johan G. Cobb, Beth Moser, Kathy L. James, Judith A. Harley, John B. Nath, Swapan K. Alpha integrin Alpha integrin m Unclassified drug Autoimmune disease Celiac disease Ethnicity Genetic association Genetic variability Genotype Human Insulin dependent diabetes mellitus Juvenile rheumatoid arthritis Power analysis Review Rheumatoid arthritis Risk Single nucleotide polymorphism Sjoegren syndrome Statistical analysis Systemic lupus erythematosus Systemic sclerosis Autoimmune diseases Dna mutational analysis Europe Gene frequency Genetic association studies Genetic predisposition to disease Genotype Humans Latin america Autoimmune diseases Genetic susceptibility Itgam single nucleotide cd11b Antigens Polymorphism Many autoimmune diseases (ADs) share similar underlying pathology and have a tendency to cluster within families, supporting the involvement of shared susceptibility genes. To date, most of the genetic variants associated with systemic lupus erythematosus (SLE) susceptibility also show association with others ADs. ITGAM and its associated 'predisposing' variant (rs1143679, Arg77His), predicted to alter the tertiary structures of the ligand-binding domain of ITGAM, may play a key role for SLE pathogenesis. The aim of this study is to examine whether the ITGAM variant is also associated with other ADs. We evaluated case-control association between rs1143679 and ADs (N=18,457) including primary Sjögren's syndrome, systemic sclerosis, multiple sclerosis, rheumatoid arthritis, juvenile idiopathic arthritis, celiac disease, and type-1 diabetes. We also performed meta-analyses using our data in addition to available published data. Although the risk allele 'A' is relatively more frequent among cases for each disease, it was not significantly associated with any other ADs tested in this study. However, the meta-analysis for systemic sclerosis was associated with rs1143679 (p meta=0.008). In summary, this study explored the role of ITGAM in general autoimmunity in seven non-lupus ADs, and only found association for systemic sclerosis when our results were combined with published results. Thus ITGAM may not be a general autoimmunity gene but this variant may be specifically associated with SLE and systemic sclerosis. © 2011 Elsevier B.V. 2012 2020-05-26T00:00:00Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 15689972 https://repository.urosario.edu.co/handle/10336/23144 https://doi.org/10.1016/j.autrev.2011.07.007 eng info:eu-repo/semantics/openAccess application/pdf instname:Universidad del Rosario
institution	EdocUR - Universidad del Rosario
collection	DSpace
language	Inglés (English)
topic	Alpha integrin Alpha integrin m Unclassified drug Autoimmune disease Celiac disease Ethnicity Genetic association Genetic variability Genotype Human Insulin dependent diabetes mellitus Juvenile rheumatoid arthritis Power analysis Review Rheumatoid arthritis Risk Single nucleotide polymorphism Sjoegren syndrome Statistical analysis Systemic lupus erythematosus Systemic sclerosis Autoimmune diseases Dna mutational analysis Europe Gene frequency Genetic association studies Genetic predisposition to disease Genotype Humans Latin america Autoimmune diseases Genetic susceptibility Itgam single nucleotide cd11b Antigens Polymorphism
spellingShingle	Alpha integrin Alpha integrin m Unclassified drug Autoimmune disease Celiac disease Ethnicity Genetic association Genetic variability Genotype Human Insulin dependent diabetes mellitus Juvenile rheumatoid arthritis Power analysis Review Rheumatoid arthritis Risk Single nucleotide polymorphism Sjoegren syndrome Statistical analysis Systemic lupus erythematosus Systemic sclerosis Autoimmune diseases Dna mutational analysis Europe Gene frequency Genetic association studies Genetic predisposition to disease Genotype Humans Latin america Autoimmune diseases Genetic susceptibility Itgam single nucleotide cd11b Antigens Polymorphism Anaya, Juan-Manuel Kim-Howard, Xana Prahalad, Sampath Cherñavsky, Alejandra Cañas, Carlos Rojas-Villarraga, Adriana Bohnsack, John Jonsson, Roland Bolstad, Anne Isine Brun, Johan G. Cobb, Beth Moser, Kathy L. James, Judith A. Harley, John B. Nath, Swapan K. Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases
description	Many autoimmune diseases (ADs) share similar underlying pathology and have a tendency to cluster within families, supporting the involvement of shared susceptibility genes. To date, most of the genetic variants associated with systemic lupus erythematosus (SLE) susceptibility also show association with others ADs. ITGAM and its associated 'predisposing' variant (rs1143679, Arg77His), predicted to alter the tertiary structures of the ligand-binding domain of ITGAM, may play a key role for SLE pathogenesis. The aim of this study is to examine whether the ITGAM variant is also associated with other ADs. We evaluated case-control association between rs1143679 and ADs (N=18,457) including primary Sjögren's syndrome, systemic sclerosis, multiple sclerosis, rheumatoid arthritis, juvenile idiopathic arthritis, celiac disease, and type-1 diabetes. We also performed meta-analyses using our data in addition to available published data. Although the risk allele 'A' is relatively more frequent among cases for each disease, it was not significantly associated with any other ADs tested in this study. However, the meta-analysis for systemic sclerosis was associated with rs1143679 (p meta=0.008). In summary, this study explored the role of ITGAM in general autoimmunity in seven non-lupus ADs, and only found association for systemic sclerosis when our results were combined with published results. Thus ITGAM may not be a general autoimmunity gene but this variant may be specifically associated with SLE and systemic sclerosis. © 2011 Elsevier B.V.
format	Artículo (Article)
author	Anaya, Juan-Manuel Kim-Howard, Xana Prahalad, Sampath Cherñavsky, Alejandra Cañas, Carlos Rojas-Villarraga, Adriana Bohnsack, John Jonsson, Roland Bolstad, Anne Isine Brun, Johan G. Cobb, Beth Moser, Kathy L. James, Judith A. Harley, John B. Nath, Swapan K.
author_facet	Anaya, Juan-Manuel Kim-Howard, Xana Prahalad, Sampath Cherñavsky, Alejandra Cañas, Carlos Rojas-Villarraga, Adriana Bohnsack, John Jonsson, Roland Bolstad, Anne Isine Brun, Johan G. Cobb, Beth Moser, Kathy L. James, Judith A. Harley, John B. Nath, Swapan K.
author_sort	Anaya, Juan-Manuel
title	Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases
title_short	Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases
title_full	Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases
title_fullStr	Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases
title_full_unstemmed	Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases
title_sort	evaluation of genetic association between an itgam non-synonymous snp (rs1143679) and multiple autoimmune diseases
publishDate	2012
url	https://repository.urosario.edu.co/handle/10336/23144 https://doi.org/10.1016/j.autrev.2011.07.007
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score	12,131701

Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases

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