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

Juan Manuel Anaya, Xana Kim-Howard, Sampath Prahalad, Alejandra Cherñavsky, Carlos Cañas, Adriana Rojas-Villarraga, John Bohnsack, Roland Jonsson, Anne Isine Bolstad, Johan G. Brun, Beth Cobb, Kathy L. Moser, Judith A. James, John B. Harley, Swapan K. Nath

Resultado de la investigación: Contribución a RevistaRevisión Literaria

39 Citas (Scopus)

Resumen

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.
Idioma originalEnglish (US)
Páginas (desde-hasta)276-280
Número de páginas5
PublicaciónAutoimmunity Reviews
DOI
EstadoPublished - feb 1 2012

Huella dactilar

Autoimmune Diseases
Single Nucleotide Polymorphism
Systemic Scleroderma
Systemic Lupus Erythematosus
Autoimmunity
Meta-Analysis
Juvenile Arthritis
Sjogren's Syndrome
Celiac Disease
Type 1 Diabetes Mellitus
Genes
Multiple Sclerosis
Rheumatoid Arthritis
Alleles
Pathology
Ligands

Citar esto

Anaya, J. M., Kim-Howard, X., Prahalad, S., Cherñavsky, A., Cañas, C., Rojas-Villarraga, A., ... Nath, S. K. (2012). Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases. Autoimmunity Reviews, 276-280. https://doi.org/10.1016/j.autrev.2011.07.007
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. En: Autoimmunity Reviews. 2012 ; pp. 276-280.
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title = "Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases",
abstract = "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 Sj{\"o}gren'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. {\circledC} 2011 Elsevier B.V.",
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Anaya, JM, Kim-Howard, X, Prahalad, S, Cherñavsky, A, Cañas, C, Rojas-Villarraga, A, Bohnsack, J, Jonsson, R, Bolstad, AI, Brun, JG, Cobb, B, Moser, KL, James, JA, Harley, JB & Nath, SK 2012, 'Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases', Autoimmunity Reviews, pp. 276-280. https://doi.org/10.1016/j.autrev.2011.07.007

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.

En: Autoimmunity Reviews, 01.02.2012, p. 276-280.

Resultado de la investigación: Contribución a RevistaRevisión Literaria

TY - JOUR

T1 - Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases

AU - Anaya, Juan Manuel

AU - Kim-Howard, Xana

AU - Prahalad, Sampath

AU - Cherñavsky, Alejandra

AU - Cañas, Carlos

AU - Rojas-Villarraga, Adriana

AU - Bohnsack, John

AU - Jonsson, Roland

AU - Bolstad, Anne Isine

AU - Brun, Johan G.

AU - Cobb, Beth

AU - Moser, Kathy L.

AU - James, Judith A.

AU - Harley, John B.

AU - Nath, Swapan K.

PY - 2012/2/1

Y1 - 2012/2/1

N2 - 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.

AB - 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.

U2 - 10.1016/j.autrev.2011.07.007

DO - 10.1016/j.autrev.2011.07.007

M3 - Literature review

SP - 276

EP - 280

JO - Autoimmunity Reviews

JF - Autoimmunity Reviews

SN - 1568-9972

ER -