| Genetics of type 1 diabetes. | |
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MedLine Citation:
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PMID: 21205883 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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BACKGROUND: Type 1 diabetes, a multifactorial disease with a strong genetic component, is caused by the autoimmune destruction of pancreatic β cells. The major susceptibility locus maps to the HLA class II genes at 6p21, although more than 40 non-HLA susceptibility gene markers have been confirmed. CONTENT: Although HLA class II alleles account for up to 30%-50% of genetic type 1 diabetes risk, multiple non-MHC loci contribute to disease risk with smaller effects. These include the insulin, PTPN22, CTLA4, IL2RA, IFIH1, and other recently discovered loci. Genomewide association studies performed with high-density single-nucleotide-polymorphism genotyping platforms have provided evidence for a number of novel loci, although fine mapping and characterization of these new regions remain to be performed. Children born with the high-risk genotype HLADR3/4-DQ8 comprise almost 50% of children who develop antiislet autoimmunity by the age of 5 years. Genetic risk for type 1 diabetes can be further stratified by selection of children with susceptible genotypes at other diabetes genes, by selection of children with a multiple family history of diabetes, and/or by selection of relatives that are HLA identical to the proband. SUMMARY: Children with the HLA-risk genotypes DR3/4-DQ8 or DR4/DR4 who have a family history of type 1 diabetes have more than a 1 in 5 risk for developing islet autoantibodies during childhood, and children with the same HLA-risk genotype but no family history have approximately a 1 in 20 risk. Determining extreme genetic risk is a prerequisite for the implementation of primary prevention trials, which are now underway for relatives of individuals with type 1 diabetes. |
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Authors:
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Andrea K Steck; Marian J Rewers |
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Publication Detail:
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Type: Journal Article Date: 2011-01-04 |
Journal Detail:
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Title: Clinical chemistry Volume: 57 ISSN: 1530-8561 ISO Abbreviation: Clin. Chem. Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-01-31 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9421549 Medline TA: Clin Chem Country: United States |
Other Details:
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Languages: eng Pagination: 176-85 Citation Subset: IM |
Affiliation:
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Barbara Davis Center for Childhood Diabetes, University of Colorado Denver, Aurora, CO. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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