Cited by 958Diabetes and associated disordersGenetic Associations and Epidemiologyinterferon and immune responses

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Rare Variants of IFIH1 , a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

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Nejentsev, Sergey, Walker, Neil, Riches, David, Egholm, Michael, Todd, John A.·2009·Science

DOI 10.1126/science.1167728PMC PMC2707798

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Abstract

Genome-wide association studies (GWASs) are regularly used to map genomic regions contributing to common human diseases, but they often do not identify the precise causative genes and sequence variants. To identify causative type 1 diabetes (T1D) variants, we resequenced exons and splice sites of 10 candidate genes in pools of DNA from 480 patients and 480 controls and tested their disease association in over 30,000 participants. We discovered four rare variants that lowered T1D risk independently of each other (odds ratio = 0.51 to 0.74; P = 1.3 × 10 –3 to 2.1 × 10 –16 ) in IFIH1 ( interferon induced with helicase C domain 1 ), a gene located in a region previously associated with T1D by GWASs. These variants are predicted to alter the expression and structure of IFIH1 [MDA5 (melanoma differentiation-associated protein 5)], a cytoplasmic helicase that mediates induction of interferon response to viral RNA. This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs.

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S. Liuet al., Hum. Mol. Genet.18, 358 (2009).
We thank the patients control participants and family members for participating in the study. S.N. held the Diabetes Research and Wellness Foundation Non-Clinical Fellowship at the early stages of the project and now holds the Royal Society University Research Fellowship. The Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory is funded by the Juvenile Diabetes Research Foundation the Wellcome Trust and the National Institute for Health Research Biomedical Research Centre. The Cambridge Institute for Medical Research is in receipt of a Wellcome Trust Strategic Award (079895). Full acknowledgements are in the supporting online material. Previously unseen SNPs were submitted to dbSNP database (www.ncbi.nlm.nih.gov/SNP/); their submission numbers are in table S3.

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Authors: Nejentsev, S., Walker, N., Riches, D., Egholm, M., & Todd, J. A.
Affiliations: University of Cambridge (GB)
Corresponding author: Nejentsev, Sergey
ORCID: Nejentsev, Sergey
Walker, Neil
Todd, John A.
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2009-04-17
Volume: 324
Issue: 5925
Pages: 387-389
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.1167728
PMC: PMC2707798
OpenAlex: W2020040634
Cited by: 958
References: 25
Citations by year: 2026: 7 · 2025: 14 · 2024: 11 · 2023: 25 · 2022: 22 · 2021: 29 · 2020: 30 · 2019: 30 · 2018: 27 · 2017: 47 · 2016: 36 · 2015: 72 · 2014: 72 · 2013: 109 · 2012: 115
FWCI: 82.79
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Science (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion)
Funders: Wellcome Trust (061858, 079895)
National Institute for Health and Care Research (NF-SI-0508-10275)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Immunology and Microbiology › Immunology › interferon and immune responses
Keywords: type 1 diabetes, MDA5, rare variants, antiviral response, interferon induction, viral RNA sensing, disease-associated genes, genetic risk
MeSH terms: Interferon-Induced Helicase, IFIH1, Base Sequence, Diabetes Mellitus, Type 1, Gene Frequency, Humans, Molecular Sequence Data, Risk, Risk Factors, Genetic Variation, Linkage Disequilibrium, Case-Control Studies, Sequence Analysis, DNA, Codon, Nonsense, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, RNA Splice Sites, DEAD-box RNA Helicases, Genome-Wide Association Study

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Rare Variants of IFIH1 , a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

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