Chromosome 6 Open Reading Frame 48 (C6orf48)

Partanen et al. (1993) identified polymorphisms in the major histocompatibility complex (MHC) class III gene encoding the G8 protein, which is located 4 kb centromeric to the HSP70 gene cluster in 6p21.3. In 95 normal blood donors, the gene frequency of the 8.5-kb RFLP (the L allele) was 0.45 and that of the 8.65-kb RFLP  was 0.55. In 19 families with patients suffering from celiac disease, though, the gene frequencies in the affected haplotypes deviated significantly from those observed in the normal population and in the unaffected MHC haplotypes of these families. However, the authors stated that the L allele is strongly associated with the HLAB8/DR3 MHC class II haplotype, which is a susceptibility marker for celiac disease. Class III as well as class II MHC genes may have a role in susceptibility to autoimmune-type diseases.