Major histocompatibility complex-encoded antigen processing gene polymorphism in IDDM.

Abstract:

:Susceptibility to insulin-dependent diabetes mellitus (IDDM) is greatly influenced by polymorphisms in the genes of the class II region of the human leukocyte antigen (HLA) complex. The complexity of this genetic association and the lack of a direct proof of involvement of HLA class II genes in human IDDM have continued to support speculation on a possible role of genes encoded in the close vicinity of these loci in IDDM. Because the recently discovered transporter associated with antigen processing (TAP) and large multifunctional protease (LMP) genes are encoded in the HLA class II region and are implicated in the processing of antigenic proteins for presentation by HLA class I molecules, they are additional candidates for a role in IDDM pathogenesis. We have analyzed genomic and coding sequence polymorphisms in the LMP2, TAP1, and TAP2 genes of 77 Danish IDDM patients and 102 control subjects. Although patients and control subjects did not differ in TAP1 and LMP2 alleles, we found a striking absence of the TAP2 allele B (long form) in IDDM patients. An analysis of the TAP2 alleles in individual DR types, however, revealed that this phenomenon is likely to be caused by linkage disequilibrium between the two loci. Thus, polymorphisms in the TAP and LMP genes are unlikely to be associated with IDDM.

journal_name

Diabetes

journal_title

Diabetes

authors

van Endert PM,Liblau RS,Patel SD,Fugger L,Lopez T,Pociot F,Nerup J,McDevitt HO

doi

10.2337/diab.43.1.110

subject

Has Abstract

pub_date

1994-01-01 00:00:00

pages

110-7

issue

1

eissn

0012-1797

issn

1939-327X

journal_volume

43

pub_type

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