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  • Pugliese, Alberto (author)

Sequence analysis of the diabetes-protective human leukocyte antigen-DQB1*0602 allele in unaffected, islet cell antibody-positive first degree relatives and in rare patients with type 1 diabetes

  • Article/chapterEnglish1999

Publisher, publication year, extent ...

  • The Endocrine Society,1999
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-62807
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-62807URI
  • https://doi.org/10.1210/jc.84.5.1722DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • The human leukocyte antigen (HLA)-DQA1*0102/DQB1*0602/DRB1*1501 (DR2) haplotype confers strong protection from type 1 diabetes. Growing evidence suggests that such protection may be mostly encoded by the DQB1*0602 allele, and we reported that even first degree relatives with islet cell antibodies (ICA) have an extremely low diabetes risk if they carry DQB1*0602. Recently, novel variants of the DQB1*0602 and *0603 alleles were reported in four patients with type 1 diabetes originally typed as DQB1*0602 with conventional techniques. One inference from this observation is that DQB1*0602 may confer absolute protection and may never occur in type 1 diabetes. By this hypothesis, all patients typed as DQB1*0602 positive with conventional techniques should carry one of the above diabetes-permissive variants instead of the protective DQB1*0602. Such variants could also occur in ICA/DQB1*0602-positive relatives, with the implication that their diabetes risk could be significantly higher than previously estimated. We therefore sequenced the DQB1*0602 and DQA1*0102 alleles in all ICA/DQB1*0602-positive relatives (n = 8) previously described and in six rare patients with type 1 diabetes and DQB1*0602. We found that all relatives and patients carry the known DQB1*0602 and DQA1*0102 sequences, and none of them has the mtDNA A3243G mutation associated with late-onset diabetes in ICA-positive individuals. These findings suggest that diabetes-permissive DQB1*0602/3 variants may be very rare. Thus, although the protective effect associated with DQB1*0602 is extremely powerful, it is not absolute. Nonetheless, the development of diabetes in individuals with DQB1*0602 remains extremely unlikely, even in the presence of ICA, as confirmed by our further evaluation of ICA/DQB1*0602-positive relatives, none of whom has yet developed diabetes.

Subject headings and genre

  • MEDICINE
  • MEDICIN

Added entries (persons, corporate bodies, meetings, titles ...)

  • Kawasaki, Eiji (author)
  • Zeller, Markus (author)
  • Yu, Liping (author)
  • Babu, Sunanda (author)
  • Solimena, Michele (author)
  • Moraes, Carlos T. (author)
  • Pietropaolo, Massimo (author)
  • Friday, Robert P. (author)
  • Trucco, Massimo (author)
  • Ricordi, Camillo (author)
  • Allen, MarieUppsala universitet,Genomik(Swepub:uu)marialle (author)
  • Noble, Janelle A. (author)
  • Erlich, Henry A. (author)
  • Eisenbarth, George S. (author)
  • Uppsala universitetGenomik (creator_code:org_t)

Related titles

  • In:Journal of Clinical Endocrinology and Metabolism: The Endocrine Society84:5, s. 1722-17280021-972X1945-7197

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