Anderson, Carl
I have always been fascinated by the role that genetics plays in human variation. I strongly believe that identifying regions of the genome that influence susceptibility to a particular disease is an important first step towards understanding its biological basis. I consider myself very fortunate to be working as a geneticist at a time when it is possible to do just this, and I'm proud to have played a key role in projects that have identified over 300 associations between genetic variation and immune-mediated disease risk.
My team is now working on a number of experiments to extend our genetic association studies to uncover rare variants underlying inflammatory bowel disease risk (IBD). We are currently analysing whole-genome sequence data from approximately 5,000 IBD cases and 4,000 UK population controls (sequenced as part of the UK10K project) and whole-exome sequence data from 150 individuals with severe, early-onset IBD.
We are also undertaking a number of experiments to better understand the biological consequences of disease-associated genetic variation, the vast majority of which lie in non-coding parts of the human genome. This work involves screening the transcriptome (e.g. RNA-seq) and epigenome (e.g. ATAC-seq) of disease-relevant primary tissues (for example, epithelial and immune cells from the gastrointestinal tract) from patients and controls. We are also in the early-stages of designing experiments to look at the consequences of the intestinal microbiota on gene-expression and IBD risk. All of our IBD research is carried out in close collaboration with the UK IBD Genetics Consortium.
Publications
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Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.
Nature genetics 2017;49;2;269-273
PUBMED: 27992413; PMC: 5540332; DOI: 10.1038/ng.3745
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Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
Nature genetics 2017;49;2;256-261
PUBMED: 28067908; PMC: 5289481; DOI: 10.1038/ng.3760
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Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.
Nature genetics 2017;49;2;186-192
PUBMED: 28067910; PMC: 5289625; DOI: 10.1038/ng.3761
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Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Nature genetics 2015;47;9;979-986
PUBMED: 26192919; PMC: 4881818; DOI: 10.1038/ng.3359
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Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.
Nature genetics 2013;45;6;670-5
PUBMED: 23603763; PMC: 3667736; DOI: 10.1038/ng.2616
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Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
Nature genetics 2012;44;10;1137-41
PUBMED: 22961000; PMC: 3459817; DOI: 10.1038/ng.2395
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Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
Nature genetics 2011;43;4;329-32
PUBMED: 21399635; PMC: 3071550; DOI: 10.1038/ng.789
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Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Nature genetics 2011;43;3;246-52
PUBMED: 21297633; PMC: 3084597; DOI: 10.1038/ng.764
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Synthetic associations are unlikely to account for many common disease genome-wide association signals.
PLoS biology 2011;9;1;e1000580
PUBMED: 21267062; PMC: 3022527; DOI: 10.1371/journal.pbio.1000580
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Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.
Nature genetics 2011;43;1;51-4
PUBMED: 21151130; PMC: 3019124; DOI: 10.1038/ng.731
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Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms.
American journal of human genetics 2008;83;1;112-9
PUBMED: 18589396; PMC: 2443836; DOI: 10.1016/j.ajhg.2008.06.008
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Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.
Gut 2017
PUBMED: 28779025; DOI: 10.1136/gutjnl-2016-313598
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Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Nature 2017;547;7662;173-178
PUBMED: 28658209; PMC: 5511510; DOI: 10.1038/nature22969
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Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.
Nature genetics 2017;49;2;186-192
PUBMED: 28067910; PMC: 5289625; DOI: 10.1038/ng.3761
-
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
Nature genetics 2017;49;2;256-261
PUBMED: 28067908; PMC: 5289481; DOI: 10.1038/ng.3760
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Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease.
Nature genetics 2017
PUBMED: 28067912; DOI: 10.1038/ng.3755
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A reference panel of 64,976 haplotypes for genotype imputation.
Nature genetics 2016;48;10;1279-83
PUBMED: 27548312; PMC: 5388176; DOI: 10.1038/ng.3643
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Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ.
The Journal of clinical endocrinology and metabolism 2016;jc20161879
PUBMED: 27525530; DOI: 10.1210/jc.2016-1879
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Class II HLA interactions modulate genetic risk for multiple sclerosis.
Nature genetics 2015;47;10;1107-13
PUBMED: 26343388; PMC: 4874245; DOI: 10.1038/ng.3395
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Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Nature genetics 2015;47;9;979-986
PUBMED: 26192919; PMC: 4881818; DOI: 10.1038/ng.3359
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Genetics in PSC: what do the "risk genes" teach us?
Clinical reviews in allergy & immunology 2015;48;2-3;154-64
PUBMED: 24736995; DOI: 10.1007/s12016-014-8417-z
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Generation of primary human intestinal T cell transcriptomes reveals differential expression at genetic risk loci for immune-mediated disease.
Gut 2015;64;2;250-9
PUBMED: 24799394; PMC: 4316924; DOI: 10.1136/gutjnl-2013-306657
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High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis.
Nature genetics 2015;47;2;172-9
PUBMED: 25559196; PMC: 4310771; DOI: 10.1038/ng.3176
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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
American journal of human genetics 2014;94;6;915-23
PUBMED: 24906020; PMC: 4121478; DOI: 10.1016/j.ajhg.2014.05.005
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Genetic studies of Crohn's disease: past, present and future.
Best practice & research. Clinical gastroenterology 2014;28;3;373-86
PUBMED: 24913378; PMC: 4075408; DOI: 10.1016/j.bpg.2014.04.009
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Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
American journal of human genetics 2014;94;2;295-302
PUBMED: 24462371; PMC: 3928658; DOI: 10.1016/j.ajhg.2014.01.001
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Host genetic variants and gene expression patterns associated with Epstein-Barr virus copy number in lymphoblastoid cell lines.
PloS one 2014;9;10;e108384
PUBMED: 25290448; PMC: 4188571; DOI: 10.1371/journal.pone.0108384
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Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
Nature genetics 2013;45;11;1353-60
PUBMED: 24076602; PMC: 3832895; DOI: 10.1038/ng.2770
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Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway.
Cell 2013;155;1;57-69
PUBMED: 24035192; PMC: 3790457; DOI: 10.1016/j.cell.2013.08.034
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Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.
Nature genetics 2013;45;6;670-5
PUBMED: 23603763; PMC: 3667736; DOI: 10.1038/ng.2616
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Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Nature 2012;491;7422;119-24
PUBMED: 23128233; PMC: 3491803; DOI: 10.1038/nature11582
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Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
Nature genetics 2012;44;10;1137-41
PUBMED: 22961000; PMC: 3459817; DOI: 10.1038/ng.2395
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optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants.
Bioinformatics (Oxford, England) 2012;28;12;1598-603
PUBMED: 22500001; PMC: 3371828; DOI: 10.1093/bioinformatics/bts180
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Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
Nature genetics 2011;43;4;329-32
PUBMED: 21399635; PMC: 3071550; DOI: 10.1038/ng.789
-
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Nature genetics 2011;43;3;246-52
PUBMED: 21297633; PMC: 3084597; DOI: 10.1038/ng.764
-
Synthetic associations are unlikely to account for many common disease genome-wide association signals.
PLoS biology 2011;9;1;e1000580
PUBMED: 21267062; PMC: 3022527; DOI: 10.1371/journal.pbio.1000580
-
Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.
Nature genetics 2011;43;1;51-4
PUBMED: 21151130; PMC: 3019124; DOI: 10.1038/ng.731
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Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
Nature genetics 2010;42;12;1118-25
PUBMED: 21102463; PMC: 3299551; DOI: 10.1038/ng.717
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Data quality control in genetic case-control association studies.
Nature protocols 2010;5;9;1564-73
PUBMED: 21085122; PMC: 3025522; DOI: 10.1038/nprot.2010.116
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Meta-analysis and imputation refines the association of 15q25 with smoking quantity.
Nature genetics 2010;42;5;436-40
PUBMED: 20418889; PMC: 3612983; DOI: 10.1038/ng.572
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Tryptophan depletion and formation of alpha-aminoadipic and gamma-glutamic semialdehydes in porcine burger patties with added phenolic-rich fruit extracts.
Journal of agricultural and food chemistry 2010;58;6;3541-8
PUBMED: 20170109; DOI: 10.1021/jf903356m
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Common variants at five new loci associated with early-onset inflammatory bowel disease.
Nature genetics 2009;41;12;1335-40
PUBMED: 19915574; PMC: 3267927; DOI: 10.1038/ng.489
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Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.
Nature genetics 2009;41;12;1330-4
PUBMED: 19915572; PMC: 2812019; DOI: 10.1038/ng.483
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Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.
Gastroenterology 2009;136;2;523-9.e3
PUBMED: 19068216; PMC: 2675137; DOI: 10.1053/j.gastro.2008.10.032
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Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
Nature genetics 2008;40;8;955-62
PUBMED: 18587394; PMC: 2574810; DOI: 10.1038/ng.175
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Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms.
American journal of human genetics 2008;83;1;112-9
PUBMED: 18589396; PMC: 2443836; DOI: 10.1016/j.ajhg.2008.06.008
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Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
Nature genetics 2008;40;6;710-2
PUBMED: 18438406; PMC: 2719289; DOI: 10.1038/ng.145
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Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
Nature genetics 2007;39;7;830-2
PUBMED: 17554261; PMC: 2628541; DOI: 10.1038/ng2061