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Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
TLDR
A meta-analysis of Crohn’s disease and ulcerative colitis genome-wide association scans is undertaken, followed by extensive validation of significant findings, with a combined total of more than 75,000 cases and controls. Expand
Resistance to HIV-1 infection in Caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene
TLDR
It is shown that a mutant allele of CCR-5 is present at a high frequency in caucasian populations, but is absent in black populations from Western and Central Africa and Japanese populations, and a 32-base-pair deletion within the coding region results in a frame shift, and generates a non-functional receptor that does not support membrane fusion or infection by macrophage- and dual-tropic HIV-1 strains. Expand
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
TLDR
The results strongly confirm 11 previously reported loci and provide genome-wide significant evidence for 21 additional loci, including the regions containing STAT3, JAK2, ICOSLG, CDKAL1 and ITLN1, which offer promise for informed therapeutic development. Expand
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
TLDR
A meta-analysis of six Crohn's disease genome-wide association studies and a series of in silico analyses highlighted particular genes within these loci implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Expand
Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the bovine DGAT1 gene with major effect on milk yield and composition.
TLDR
The positional candidate cloning of this QTL is reported, involving the construction of a BAC contig spanning the corresponding marker interval, and the demonstration that a very strong candidate gene, acylCoA:diacylglycerol acyltransferase (DGAT1), maps to that contig. Expand
A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig
TLDR
This study establishes a causal relationship between a single-base-pair substitution in a non-coding region and a QTL effect, and supports the long-held view that regulatory mutations are important for controlling phenotypic variation. Expand
Mapping quantitative trait loci controlling milk production in dairy cattle by exploiting progeny testing.
TLDR
These findings demonstrate that loci with considerable effects on milk production are still segregating in highly selected populations and pave the way toward marker-assisted selection in dairy cattle breeding. Expand
Molecular dissection of a quantitative trait locus: a phenylalanine-to-tyrosine substitution in the transmembrane domain of the bovine growth hormone receptor is associated with a major effect on
TLDR
Using a denser chromosome 20 marker map and exploiting linkage disequilibrium using two distinct approaches, strong evidence is provided that a chromosome segment including the gene coding for the growth hormone receptor accounts for at least part of the chromosome 20 QTL effect. Expand
A deletion in the bovine myostatin gene causes the double–muscled phenotype in cattle
TLDR
It is demonstrated that a mutation in bovine MSTN, which encodes myostatin, a member of the TGFβ superfamily, is responsible for the double-muscled phenotype, and an 11-bp deletion in the coding sequence for the bioactive carboxy-termihal domain of the protein causing the muscular hypertrophy observed in Belgian Blue cattle is reported. Expand
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
TLDR
A meta-analysis of six ulcerative colitis genome-wide association study datasets found many candidate genes that provide potentially important insights into disease pathogenesis, including IL1R2, IL8RA-IL8RB, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1. Expand
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