Genetic susceptibility factors in type 1 diabetes: Linkage, disequilibrium and functional analyses

Jin Xiong She, Michele P. Marron

Research output: Contribution to journalArticlepeer-review

64 Scopus citations


Continuing progress has been made in elucidating the genetic factors involved in type 1 diabetes (insulin-dependent diabetes mellitus [IDDM]) in the past year. Two genome scans suggested additional susceptibility intervals and provided supporting evidence for several previously reported linkages. Other studies focused on the confirmation of linkage using multipoint sibpair analyses with densely spaced markers and multiethnic collections of families. Although significant and consistent linkage evidence was reported for the susceptibility intervals IDDM8 (on human chromosome 6q27), IDDM4 (on 11q) and IDDM5 (on 6q25), evidence for most other intervals varies in different data sets - probably due to a weak effect of the disease genes, genetic heterogeneity or random variation. Linkage disequilibrium mapping has become an increasingly important tool for both the confirmation and line-mapping of susceptibility intervals, as well as identification of etiological mutations. Functional studies indicate, firstly, that the susceptible and protective HLA class II molecules HLA-DR and -DQ bind and present nonoverlapping peptides and, secondly, that the variable number of tandem repeats at the 5' end of the insulin gene (susceptibility interval IDDM2) regulates insulin expression in the thymus.

Original languageEnglish (US)
Pages (from-to)682-689
Number of pages8
JournalCurrent Opinion in Immunology
Issue number6
StatePublished - Dec 1998
Externally publishedYes

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology


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