Abstract
The (MHC) includes the alleles for HLA-A, B, DR; the complement components C2, Bf, and C4; and glyoxylase I (GLO I). C4 synthesis is controlled by two loci (A and B) and unexpressed (“null”) alleles are fairly common (C4AQO, C4BQO).
Study of 26 patients affected by MPGN I or III and their families allowed unambiguous determination of 52 “disease associated” MHC haplotypes. The extended haplotype HLA-A1, B8, DR3, SC01 (BfS, C2C, C4AQO, C4B1), GLO I 2 comprised 8 (15%) of these haplotypes, and was present in 31% of patients. This pattern, however, was found in only 1/102 normal (i.e. not occurring in MPGN patients) haplotypes (p <.001). Family members who did not share haplotypes with the patients did not differ from the normal population in haplotype frequencies. The presence of C4AQO on this haplotype accounts for our earlier finding of a high frequency of C4 nulls in MPGN.
The identical extended haplotype has been reported by others to occur with increased frequency in insulin dependent diabetes mellitus. Without data on the GLO I variant, it has also been reported in SLE. Although A1B8DR3SC01 is a common Caucasian haplotype (8% of our normal haplotypes), the disease associated haplotype always bears the GLO I 2 variant. These data suggest that a “disease susceptibility” gene(s) may be located between the DR/complotype loci and GLO I, and may be more closely linked to them than to HLA A and B.
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Welch, T., Belschel, U. & West, C. 1653 AN EXTENDED MAJOR HISTOCOMPATIBILITY COMPLEX (MHC) HAPLOTYPE ASSOCIATED WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS TYPES I AND III. Pediatr Res 19, 386 (1985). https://doi.org/10.1203/00006450-198504000-01677
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DOI: https://doi.org/10.1203/00006450-198504000-01677