Author(s)
Hailiang Huang
Published 18 Projects
Panss Expression Quantitative Trait Locus Genetics Meta Analysis Genetic And Genomic Medicine
Gabrielle Boucher
Published 2 Projects
Genetics Genetic And Genomic Medicine Inflammatory Bowel Diseases (Ibd) Hla Fine Mapping
Andre Franke
Published 4 Projects
Neuroscience Hippocampus Genetics Genetic And Genomic Medicine Inflammatory Bowel Diseases (Ibd)
Talin Haritunians
Published 3 Projects
Genetics Genetic And Genomic Medicine Inflammatory Bowel Diseases (Ibd) Hla Fine Mapping
Rinse K. Weersma
Published 3 Projects
Genetics Genetic And Genomic Medicine Inflammatory Bowel Diseases (Ibd) Hla Fine Mapping
John D Rioux
Published 3 Projects
Genetics Genetic And Genomic Medicine Inflammatory Bowel Diseases (Ibd) Hla Fine Mapping
Dermot P.B. McGovern
Published 3 Projects
Genetics Genetic And Genomic Medicine Inflammatory Bowel Diseases (Ibd) Hla Fine Mapping
Mark Daly
Published 13 Projects
Genetics Psychiatric Genomics Consortium (Pgc) Immunology Genetic And Genomic Medicine Imputation
Content
Inflammatory bowel disease (IBD) is a chronic gastrointestinal inflammatory disorder that affects millions worldwide. Genome-wide association studies (GWAS) have identified 200 IBD-associated loci, but few have been conclusively resolved to specific functional variants. Here we report fine-mapping of 94 IBD loci using high-density genotyping in 67,852 individuals. Of the 139 independent associations identified in these regions, 18 were pinpointed to a single causal variant with >95% certainty, and an additional 27 associations to a single variant with >50% certainty. These 45 variants are significantly enriched for protein-coding changes (n=13), direct disruption of transcription factor binding sites (n=3) and tissue specific epigenetic marks (n=10), with the latter category showing enrichment in specific immune cells among associations stronger in CD and gut mucosa among associations stronger in UC. The results of this study suggest that high-resolution, fine-mapping in large samples can convert many GWAS discoveries into statistically convincing causal variants, providing a powerful substrate for experimental elucidation of disease mechanisms.
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Hailiang Huang. (2021, Oct 27).Association mapping of inflammatory bowel disease loci to single variant resolution[Video]. Scitok. https://scitok.com/project/p/4df45730
Huang Hailiang. "Association mapping of inflammatory bowel disease loci to single variant resolution" Scitok, uploaded by Huang Hailiang, 27 Oct, 2021, https://scitok.com/project/p4df45730
Hailiang Huang. "Association mapping of inflammatory bowel disease loci to single variant resolution" Scitok. (Oct 27, 2021). https://scitok.com/project/p/4df45730
Hailiang Huang (Oct 27, 2021). Association mapping of inflammatory bowel disease loci to single variant resolution Scitok. https://scitok.com/project/p/4df45730
Hailiang Huang. Association mapping of inflammatory bowel disease loci to single variant resolution[video]. 2021 Oct 27. https://scitok.com/project/p/4df45730
@online{al2006link, title={ Association mapping of inflammatory bowel disease loci to single variant resolution }, author={ Huang, Hailiang }, organization={Scitok}, month={ Oct }, day={ 27 }, year={ 2021 }, url = {https://scitok.com/project/p/4df45730}, }