HL‐A8 AND HAPLOTYPE HL‐A1‐8 IN COELIAC DISEASE

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Abstract
SUMMARY: HL‐A antigens in fifty‐four coeliac children and in parents and healthy siblings of forty‐seven of these patients have been determined, thus allowing deduction of haplotypes and segregation analysis. HL‐A8 frequency was found highly significantly increased (χ2= 37.92; P≪ 0.001) in coeliac children compared with a control group of 240 unrelated individuals; the increase of HL‐A1 frequency is attributed to linkage disequilibrium between the genes involved. The haplotype HL‐A1‐8 frequency was also found significantly increased in coeliac children (χ2= 55.13; P≪ 0.001) with frequency elevation in the healthy siblings (χ2= 31.45; P≪ 0.001) in comparison with the controls.In segregation analysis a significant deviation from the expected distribution of HL‐A8 (χ2= 15.38) and to a somewhat lesser degree of HL‐A1 (χ2= 12.45 could be shown in coeliac children while there was no significant deviation in the distribution of these antigens detectable in their healthy siblings. Only a few haplotypes were frequent enough to be included in segregation analysis of haplotypes. Again in coeliac children a positive correlation with haplotype HL‐A1‐8 was found differing significantly from the expected distribution (χ2= 8.05), whereas this haplotype appeared almost evenly distributed in the healthy siblings of the patients.