The susceptibility to develop coeliac disease (CD) has a strong genetic component, which is not
entirely explained by HLA associations. Two previous genome wide linkage studies have been
performed to identify additional loci outside this region. These studies both used a sib-pair design
and produced conflicting results.
Our aim is to identify non-MHC genetic loci contributing to coeliac disease using a family based
linkage study. We performed a genome wide search in 16 highly informative multiply affected
pedigrees using 400 microsatellite markers with an average spacing of 10 cM. Linkage analysis was
performed using lod score and model free methods.
We identified two new potential susceptibility loci with lod scores of 1.9, at 10q23.1, and 16q23.3.
Significant, but lower lod scores were found for 6q14 (1.2), 11p11 (1.5), and 19q13.4 (0.9), areas
implicated in a previous genome wide study. Lod scores of 0.9 were obtained for both D7S507, which
lies 1 cM from the γT-cell receptor gene, and for D2S364, which lies 12 cM from the CTLA4 gene.