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Gene test? PDF Print E-mail

HLA typing gives a clue to the genetic predisposition for Coeliac Disease. 

HLA is the abbreviation for the “Histocompatibility Leucocyte Antigen”.  It is used primarily as a test in tissue typing.   It is like an expanded blood type test.  In blood typing the main groups are ABO and Rh (positive or negative).   The HLA typing system is detailed and complex.  Of interest, many HLA types have been associated with specific diseases.

It has been discovered that most patients with biopsy proven Coeliac Disease have the HLA class II haplotype: HLA-B8, DR3, DQ2 /DQ8.  This is the genetic basis which can explain the increased risk in first-degree relatives.  About 10% of first degree relatives are also affected.  In HLA-identical siblings, this risk rises to 30%.  In identical twins, the risk goes up to 70%.


 
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