Meta-analysis of genome-wide linkage studies across autoimmune diseases

Paola Forabosco, Emmanuelle Bouzigon, Mandy Y. Ng, Jane Hermanowski, Sheila A. Fisher, Lindsey A. Criswell, Cathryn M. Lewis

Research output: Contribution to journalArticlepeer-review

37 Citations (Scopus)


Autoimmune diseases are chronic disorders initiated by a loss of immunologic tolerance to self-antigens. They cluster within families, and patients may be diagnosed with more than one disease, suggesting pleiotropic genes are involved in the aetiology of different diseases. To identify potential loci, which confer susceptibility to autoimmunity independent of disease phenotype, we pooled results from genome-wide linkage studies, using the genome scan meta-analysis method (GSMA). The meta-analysis included 42 independent studies for 11 autoimmune diseases, using 7350 families with 18 291 affected individuals. In addition to the HLA region, which showed highly significant genome-wide evidence for linkage, we obtained suggestive evidence for linkage on chromosome 16, with peak evidence at 10.0-19.8 Mb. This region may harbour a pleiotropic gene (or genes) conferring risk for several diseases, although no such gene has been identified through association studies. We did not identify evidence for linkage at several genes known to confer increased risk to different autoimmune diseases (PTPN22, CTLA4), even in subgroups of diseases consistently found to be associated with these genes. The relative risks conferred by variants in these genes are modest (
Original languageEnglish
Pages (from-to)236 - 243
Number of pages8
JournalEuropean Journal of Human Genetics
Issue number2
Publication statusPublished - 2009


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