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...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2012
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/23144
- Acceso en línea:
- https://doi.org/10.1016/j.autrev.2011.07.007
https://repository.urosario.edu.co/handle/10336/23144
- Palabra clave:
- 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
- Rights
- License
- Abierto (Texto Completo)
Summary: | 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. |
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