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Joshua D. Hoffman
University of California, San Francisco
Genome-wide association studyMacular degenerationDiseaseGeneticsBiology
35Publications
9H-index
582Citations
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Publications 40
Newest
#1R. E. Graff (KP: Kaiser Permanente)
#1Rebecca E. Graff (UCSF: University of California, San Francisco)H-Index: 11
Last. Lori C. SakodaH-Index: 28
view all 21 authors...
Background: Genetic factors that influence etiologic mechanisms shared across cancers could affect the risk of multiple cancer types. We investigated polygenic risk score (PRS)-specific pleiotropy across 17 cancers in two large population-based cohorts. Methods: The study population included European ancestry individuals from the Genetic Epidemiology Research on Adult Health and Aging cohort (16,012 cases, 50,552 controls) and UK Biobank (48,969 cases, 359,802 controls). We selected known indepe...
1 CitationsSource
#1Manuel A. R. Ferreira (QIMR: QIMR Berghofer Medical Research Institute)H-Index: 44
#2Judith M. Vonk (UMCG: University Medical Center Groningen)H-Index: 53
Last. Yi LuH-Index: 19
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#1Michael A. Portelli (NIHR: National Institute for Health Research)H-Index: 6
#2Matthew Edwards (GSK: GlaxoSmithKline)
Last. Ian Sayers (NIHR: National Institute for Health Research)H-Index: 32
view all 11 authors...
Introduction: Interleukin 33 (IL33) and its receptor (IL1RL1/ST2) play important roles in asthma development. Multiple IL33 isoforms have been identified, while IL1RL1 contains coding region polymorphisms associated with asthma. Aim: To characterise the ability of IL33 isoforms to activate IL1RL1 signalling and determine the role of IL1RL1 TIR signalling domain haplotypes. Methods: A NFKB/AP1 promoter driven secretory alkaline phosphatase (SEAP) cell line was engineered to express asthma risk or...
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#1Nima C. Emami (UCSF: University of California, San Francisco)H-Index: 3
#2Linda Kachuri (UCSF: University of California, San Francisco)H-Index: 9
Last. John S. WitteH-Index: 64
view all 12 authors...
Source
#1Nima C. Emami (UCSF: University of California, San Francisco)H-Index: 3
#2Linda Kachuri (UCSF: University of California, San Francisco)H-Index: 9
Last. John S. WitteH-Index: 64
view all 12 authors...
Here we train cis-regulatory models of prostate tissue gene expression and impute expression transcriptome-wide for 233,955 European ancestry men (14,616 prostate cancer (PrCa) cases, 219,339 controls) from two large cohorts. Among 12,014 genes evaluated in the UK Biobank, we identify 38 associated with PrCa, many replicating in the Kaiser Permanente RPGEH. We report the association of elevated TMPRSS2 expression with increased PrCa risk (independent of a previously-reported risk variant) and wi...
6 CitationsSource
#1Nick ShrineH-Index: 16
#2Anna L. GuyattH-Index: 2
Last. Maarten van den BergeH-Index: 29
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1 Citations
#1Nick Shrine (University of Leicester)H-Index: 16
#2Anna L. Guyatt (University of Leicester)H-Index: 2
Last. Louise V. Wain (NIHR: National Institute for Health Research)H-Index: 35
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#2I. Tachmazidou (GSK: GlaxoSmithKline)H-Index: 2
Last. Eleftheria Zeggini (Wellcome Trust Sanger Institute)H-Index: 71
view all 21 authors...
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#2Ioanna Tachmazidou (GSK: GlaxoSmithKline)H-Index: 1
Last. Aris BarasH-Index: 14
view all 49 authors...
SUMMARY The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world. Here we describe the first tranche of large-scale exome sequence data for 49,960 study participants, revealing approximately 4 million coding variants (of which ~98.4% have frequency 10-fold increase compared to imputed sequence for the same participants. Nearly all genes (>97%) had ≥1 predicted loss of function carrier,...
50 CitationsSource
#1Nick Shrine (University of Leicester)H-Index: 16
#3Anna L. Guyatt (University of Leicester)H-Index: 4
Last. Louise V. Wain (NIHR: National Institute for Health Research)H-Index: 35
view all 109 authors...
Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of European ancestry, we define 279 lung function signals, 139 of which are new. In combination, these variants strongly predict COPD in independent populations. Furthermore, the combined effect of these variants showed generalizability across smokers and never smokers, and across ancestral groups. We highlight biological ...
19 CitationsSource
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