Celiac disease (CD), a malabsorption disorder of: the small intestine,
results from ingestion of gluten. The HLA risk factors involved in CD
are well known but do not explain the entire genetic susceptibility.
To determine the localization of other genetic risk factors, a systema
tic screening of the genome has been undertaken, The typing informatio
n of 281 markers on 110 affected sib pairs and their parents was used
to test linkage. Systematic linkage analysis was first performed on 33
pairs in which both sibs had a symptomatic form of CD. Replication of
the regions of interest was then carried out on 71 pairs in which one
sib had a symptomatic form and the other a silent form of CD. In addi
tion to the HLA loci, our study suggests that a risk factor in 5qter i
s involved in both forms of CD (symptomatic and silent). Furthermore,
a factor on 11qter possibly differentiates the two forms. In contrast,
none of the regions recently published was confirmed by the present s
creening.