A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region

By D. Smyth, J. Cooper, Rebecca Bailey, Sarah F. Field, O. Burren, L. Smink, C. Guja, C. Ionescu-Tîrgoviste, B. Widmer, D. Dunger and 4 more. Nature Genetics, 2006

677 citations recorded by the source corpus.

Subfields: Genetics, Immunology, Surgery

View Paper: https://www.semanticscholar.org/paper/97a9a693d68f56eaa812afef4e2db2bef490a963

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Citations in the corpus

A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus (2009, background): “3 × 10 −7 ) that has previously been associated with type 1 diabetes and Graves' diseas”
Neutral and weakly nonneutral sequence variants may define individuality (2013, background): “Nonsynonymous single-nucleotide polymorphisms (nsSNPs) (here, nonsynonymous single-nucleotide variants of any population frequency), variants that alter the amino acid sequence, have been associated with many diseases (3).”
The linkage disequilibrium and the selection of genetic markers for association studies in European populations (2007, background): “Current association studies use thousands or even tens of thousands of individuals to analyze the effect of disease causing alleles (Herbert et al. 2006; Sladek et al. 2007; Smyth et al. 2006).”
RNA recognition and signal transduction by RIG‐I‐like receptors (2009, background): “Furthermore, genome-wide analysis demonstrated that the MDA5 gene was a strong candidate of a gene locus associated with type I diabetes, suggesting the involvement of MDA5 in autoimmune disorders (50).”
SNPFile – A software library and file format for large scale association mapping and population genetics studies (2008, neutral): “Background High-throughput genotyping technology has enabled cost effective typing of thousands of individuals in hundred of thousands of markers for use in genome wide studies [1], in particular genome disease association studies [2-7].”
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1 (2007, result): “Although the present study still fell short of comprehensively assessing all putatively functional variation in the human genome, our results, together with those of other recent studie”
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes (2007, neutral): “(2,347) (2,527) (2,488) (2,551) (2,554) INS rs689 0.”
Immune signaling by RIG-I-like receptors (2011, background): “Genetic screens have led to the identification of a number of polymorphisms in IFIH1 (the MDA5 gene) that are associated with resistance to type 1 diabetes (T1D), including T946A, E627*, I923V, R843H, IVS8+1, and IVS14+1 (Smyth et al., 2006; Concannon et al., 2008; Liu et al., 2009; Nejentsev et al.”