Abstract
The highest known risk for invasive HIB disease occurs in Alaskan Eskimos (10-50 times that in the U.S. population). Using a case-control design to study potential genetic explanations for this unique susceptibility, we examined 93 Eskimo HIB cases and an equal number of healthy Eskimo controls matched for age and village (exposure). We observed that allele 3 of the UMPK locus was positively associated with HIB disease, with a relative risk of 3-33 (McNemar matched pair, p<.01). Further, all UMPK 3-3 homozygotes in this study were HIB cases. This is consistent with an earlier suggestion of increased respiratory infections in a family with a UMPK variant (Giblett, AJHG, 30: 627, 1974).
To investigate further the nature of this susceptibility, serum levels of total HIB antibody (AB) were measured by radio-immunoassay. While no relationship was found between antibody and the UMPK phenotypes in the controls, a positive correlation was observed between antibody level and UMPK type in the HIB cases. Log AB levels increased with the number of UMPK-2 and -3 variants (p<.04), both in the overall sample and after adjusting for age:
This study has identified a genetic marker associated with susceptibility to HIB disease and suggests that a relationship may exist between UMPK enzyme activity, HIB disease susceptibility, and specific humoral antibody response.
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Petersen, G., Silimperi, D., Scott, E. et al. URIDINE MONOPHOSPHATE KINASE (UMPK)-A NEW GENETIC MARKER FOR SUSCEPTIBILITY TO HAEMOPHILUS INFLUENZAE TYPE B (HIB) DISEASE. Pediatr Res 18 (Suppl 4), 224 (1984). https://doi.org/10.1203/00006450-198404001-00785
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DOI: https://doi.org/10.1203/00006450-198404001-00785