Abstract
Aims/hypothesis:
We set out to validate a recently reported type 1 diabetes association from the IFIH1 gene variation in an independent cohort from a population of mixed European descent.
Methods:
We genotyped five single-nucleotide polymorphisms in the IFIH1 locus, i.e. rs2111485, rs1990760, rs3747517, rs17783344 and rs984971589, in 589 type 1 diabetes nuclear family trios (1,767 individuals).
Results:
This study independently replicated the reported genetic association using a family-based approach.
Conclusions/interpretation:
The reported type 1 diabetes association is from a linkage disequilibrium region including three candidate genes, i.e. FAP, IFIH1 and GCA. Further variant discovery and fine mapping could help clarify a novel type 1 diabetes mechanism.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Antigens, Neoplasm / genetics*
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Biomarkers, Tumor / genetics*
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Calcium-Binding Proteins / genetics*
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DEAD-box RNA Helicases / genetics*
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Diabetes Mellitus, Type 1 / genetics*
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Endopeptidases
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Ether-A-Go-Go Potassium Channels / genetics
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Female
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Gelatinases
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Genetic Variation*
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Humans
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Interferon-Induced Helicase, IFIH1
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Male
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Membrane Proteins
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Nuclear Family
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Serine Endopeptidases / genetics*
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White People / genetics
Substances
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Antigens, Neoplasm
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Biomarkers, Tumor
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Calcium-Binding Proteins
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Ether-A-Go-Go Potassium Channels
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GCA protein, human
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KCNH7 protein, human
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Membrane Proteins
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Endopeptidases
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Serine Endopeptidases
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fibroblast activation protein alpha
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Gelatinases
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IFIH1 protein, human
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DEAD-box RNA Helicases
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Interferon-Induced Helicase, IFIH1