Genetic dissection between silent and clinically diagnosed symptomatic forms of coeliac disease in multiplex families.
BACKGROUND
Coeliac disease has a large variation in clinical outcome. In addition to the classical disease with malabsorption, many individuals have a silent form, in which subject symptoms are missing but autoantibodies and mucosa lesions are identical to the symptomatic disease.


OBJECTIVE
To investigate whether differences in HLA DR-DQ genes explain the variation in outcome.


METHODS
HLA DQ alleles were determined in 28 multiplex families with sibling pairs in which one had the symptomatic disease but the other had the silent form.


RESULTS
No differences in the distribution of HLA DR-DQ haplotypes could be observed. The clinically diagnosed coeliac disease seemed to have earlier onset than silent coeliac disease.


CONCLUSIONS
Results indicate that the major genetic susceptibility locus, HLA DQ, does not determine the exact clinical outcome of coeliac disease.
Mustalahti
K
K
Medical School Paediatric Research Centre, University of Tampere, Finland.
Holopainen
P
P
Karell
K
K
Mäki
M
M
Partanen
J
J
D000483:Alleles; D002446:Celiac Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006683:HLA-DQ Antigens / Q000032:analysis*; D006801:Humans; D008297:Male
D006683:HLA-DQ Antigens