Article

Emerging patterns of genetic overlap across autoimmune disorders.

University of California San Francisco, Rosalind Russell Medical Research Center for Arthritis, Department of Medicine, Parnassus Avenue, San Francisco, CA 94143, USA. .
Genome Medicine 01/2012; 4(1):6. DOI:10.1186/gm305 pp.6
Source: PubMed

ABSTRACT Most of the recently identified autoimmunity loci are shared among multiple autoimmune diseases. The pattern of genetic association with autoimmune phenotypes varies, suggesting that certain subgroups of autoimmune diseases are likely to share etiological similarities and underlying mechanisms of disease. In this review, we summarize the major findings from recent studies that have sought to refine genotype-phenotype associations in autoimmune disease by identifying both shared and distinct autoimmunity loci. More specifically, we focus on information from recent genome-wide association studies of rheumatoid arthritis, ankylosing spondylitis, celiac disease, multiple sclerosis, systemic lupus erythematosus, type 1 diabetes and inflammatory bowel disease. Additional work in this area is warranted given both the opportunity it provides to elucidate pathogenic mechanisms in autoimmunity and its potential to inform the development of improved diagnostic and therapeutic tools for this group on complex human disorders.

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    Article: Autoimmune diseases co-occurring within individuals and within families: a systematic review.
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    ABSTRACT: Autoimmune diseases have been observed to coexist both within individuals and within families. It is unclear whether clinical reports of comorbid autoimmune diseases represent chance findings or true associations. This systematic review evaluates the current level of evidence on the coexistence of selected autoimmune diseases within individuals and families. We reviewed the associations among 4 TH1-associated autoimmune diseases: insulin-dependent diabetes mellitus, autoimmune (Hashimoto) thyroiditis, rheumatoid arthritis, and multiple sclerosis. Studies quantifying the coexistence between the selected diseases, published through March 2004, were identified from Medline and Embase searches. Study eligibility was determined on the basis of preestablished criteria, and relevant data were extracted according to a fixed protocol. We determined the prevalence of comorbid autoimmune disease according to index disease and then compiled summary statistics. Heterogeneity among studies was assessed by exact likelihood ratio tests and Monte Carlo inference. We found 54 studies that met the eligibility criteria. Of these, 52 studies examined the coexistence of disease within individuals and 9 studies examined within-family associations. The majority of studies were uncontrolled and did not account for confounding factors. There was substantial evidence for heterogeneity among studies. Although inconclusive, the data appear to support an increased prevalence of autoimmune thyroiditis among patients with rheumatoid arthritis and those with insulin-dependent diabetes mellitus, and an inverse association between rheumatoid arthritis and multiple sclerosis. Although the available evidence does not permit firm conclusions regarding comorbidities among the selected autoimmune diseases, results are sufficiently suggestive to warrant further study.
    Epidemiology 04/2006; 17(2):202-17. · 5.57 Impact Factor

Keywords

Additional work
 
ankylosing spondylitis
 
autoimmune disease
 
autoimmune diseases
 
autoimmune phenotypes varies
 
celiac disease
 
complex human disorders
 
distinct autoimmunity loci
 
elucidate pathogenic mechanisms
 
identified autoimmunity loci
 
inflammatory bowel disease
 
multiple autoimmune diseases
 
multiple sclerosis
 
recent genome-wide association studies
 
recent studies
 
share etiological similarities
 
systemic lupus erythematosus
 
type 1 diabetes