In order to assess the effect of the HLA region on familiality
of
coeliac disease (CD), we carried out
a study on 121 CD index cases and 325 first degree relatives. The
transmission disequilibrium test
confirmed the importance of the HLA-DR3 haplotype in CD susceptibility.
However, the different
distortion found in affected children inheriting maternal or paternal
DR3 alleles suggested that the
sex of the parent might influence the risk conferred by this haplotype.
The increase in risk to siblings
of affected individuals relative to the risk in the general population
(λs) and the contribution of the
HLA genes to this clustering (λsHLA) have also been
estimated. Non-overlapping data from the
literature have been collected and combined with our sample to extend
such analysis. Then, the
percentage contribution of the HLA region to the development of CD among
siblings was 36·2%.
This result confirms that the HLA genotypes are an important
genetic background to CD
development but shows that additional susceptibility factors remain to
be identified.