Properdin factor B(Bf) allele BfF1 specifies an HLA-B18 diabetogenic haplotype.
We found the rare properdin factor B(Bf) variant F1 to be present in 11% of 72 patients suffering from insulin-dependent diabetes (IDDM) compared with 2% among 150 normal controls. BfF1 thus confers a relative risk for IDDM of 5.55. All eight patients and three controls who were BfF1 positive were also HLA-B18 positive, reflecting the strong linkage disequilibrium between these two factors. We suggest that BfF1 marks a 'diabetogenic' B18-bearing HLA haplotype. Studies of unselected families with one or more affected members suggest that the B18, BfF1 does not necessarily segregate with IDDM phenotype. This study provides further evidence for the genetic heterogeneity of IDDM.
D000483:Alleles; D011415:Complement Factor B / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics* / Q000276:immunology; D004792:Enzyme Precursors / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D006680:HLA Antigens / Q000235:genetics*; D006238:Haploidy; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D012306:Risk
D004792:Enzyme Precursors; D005819:Genetic Markers; D006680:HLA Antigens; D011415:Complement Factor B