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Caroline S. Fox
Merck & Co.
721Publications
124H-index
76.6kCitations
Publications 721
Newest
Published on Mar 1, 2019in Nature Genetics 27.13
Anne E. Justice20
Estimated H-index: 20
,
Tugce Karaderi14
Estimated H-index: 14
(Wellcome Trust Centre for Human Genetics)
+ 277 AuthorsXiaosen Guo55
Estimated H-index: 55
(UCLA Medical Center)
Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF ≥5%) and nine low-frequency or rare (MAF...
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Published on Mar 1, 2019in American Journal of Kidney Diseases 7.54
Caroline S. Fox124
Estimated H-index: 124
(Merck & Co.)
The probability of success of developing medicines to treat human disease can be improved by leveraging human genetics. Different types of genetic data and techniques, including genome-wide association, whole-exome sequencing, and whole-genome sequencing, can be used to gain insight into human disease. Layering different types of genetic evidence from Mendelian disease, coding variants, and common variation can bolster support for a genetic target. Human knockouts offer the potential to perform ...
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Published on Mar 1, 2019in International Journal of Obesity 5.16
Lan Wang1
Estimated H-index: 1
(Boston University),
Jeremiah Perez3
Estimated H-index: 3
(Boston University)
+ 7 AuthorsChing-Ti Liu31
Estimated H-index: 31
(Boston University)
Indices of body fat distribution are heritable, but few genetic signals have been reported from genome-wide association studies (GWAS) of computed tomography (CT) imaging measurements of body fat distribution. We aimed to identify genes associated with adiposity traits and the key drivers that are central to adipose regulatory networks. We analyzed gene transcript expression data in blood from participants in the Framingham Heart Study, a large community-based cohort (n up to 4303), as well as i...
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Published on Feb 1, 2019in The Lancet Diabetes & Endocrinology 19.31
Josef Coresh126
Estimated H-index: 126
(Johns Hopkins University),
Hiddo J. Lambers Heerspink44
Estimated H-index: 44
(University Medical Center Groningen)
+ 134 AuthorsHarold I. Feldman66
Estimated H-index: 66
(University of Pennsylvania)
Summary Background Change in albuminuria as a surrogate endpoint for progression of chronic kidney disease is strongly supported by biological plausibility, but empirical evidence to support its validity in epidemiological studies is lacking. We aimed to assess the consistency of the association between change in albuminuria and risk of end-stage kidney disease in a large individual participant-level meta-analysis of observational studies. Methods In this meta-analysis, we collected individual-l...
7 Citations Source Cite
Published on Jan 1, 2019
Anne E. Justice20
Estimated H-index: 20
,
Tugce Karaderi14
Estimated H-index: 14
+ 285 AuthorsXiaosen Guo55
Estimated H-index: 55
Published on Jan 1, 2019in Obesity 4.04
Isabelle Schoppa (National Institutes of Health), Asya Lyass27
Estimated H-index: 27
(Boston University)
+ 6 AuthorsMichael M. Mendelson12
Estimated H-index: 12
(Boston Children's Hospital)
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Published on Dec 1, 2018in Nature Communications 12.35
Adrienne Tin19
Estimated H-index: 19
(Johns Hopkins University),
Yong Li12
Estimated H-index: 12
(University of Freiburg)
+ 32 AuthorsAurélien Macé8
Estimated H-index: 8
(University of Lausanne)
Elevated serum urate levels can cause gout, an excruciating disease with suboptimal treatment. Previous GWAS identified common variants with modest effects on serum urate. Here we report large-scale whole-exome sequencing association studies of serum urate and kidney function among ≤19,517 European ancestry and African-American individuals. We identify aggregate associations of low-frequency damaging variants in the urate transporters SLC22A12 (URAT1; p = 1.3 × 10−56) and SLC2A9 (p = 4.5 × 10−7)...
3 Citations Source Cite
Published on Dec 1, 2018in Nature Communications 12.35
Dorothée Diogo15
Estimated H-index: 15
(Merck & Co.),
Chao Tian23
Estimated H-index: 23
+ 31 AuthorsElina Kilpeläinen2
Estimated H-index: 2
(University of Helsinki)
Phenome-wide association studies (PheWAS) have been proposed as a possible aid in drug development through elucidating mechanisms of action, identifying alternative indications, or predicting adverse drug events (ADEs). Here, we select 25 single nucleotide polymorphisms (SNPs) linked through genome-wide association studies (GWAS) to 19 candidate drug targets for common disease indications. We interrogate these SNPs by PheWAS in four large cohorts with extensive health information (23andMe, UK Bi...
3 Citations Source Cite
Published on Dec 1, 2018in Nature Communications 12.35
Alexander Teumer66
Estimated H-index: 66
,
Layal Chaker16
Estimated H-index: 16
(Erasmus University Rotterdam)
+ 125 AuthorsMasato Akiyama7
Estimated H-index: 7
Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulation have only partly been elucidated, including its transport, metabolism, and genetic determinants. Here we report a large meta-analysis of genome-wide association studies for thyroid function and dysfunction, testing 8 million genetic variants in up to 72,167 individuals. One-hundred-and-n...
2 Citations Source Cite
Published on Jun 19, 2018in Journal of the American Heart Association 4.45
Michael L. Chuang23
Estimated H-index: 23
(National Institutes of Health),
Philimon Gona54
Estimated H-index: 54
(University of Massachusetts Boston)
+ 5 AuthorsChristopher J. O'Donnell129
Estimated H-index: 129
(Harvard University)
Background We sought to determine whether increased aortic arch width (AAW) adds to standard Framingham risk factors and coronary artery calcium (CAC) for prediction of incident adverse cardiovascular disease (CVD) events in community‐dwelling adults. Methods and Results A total of 3026 Framingham Heart Study Offspring and Third Generation cohort participants underwent noncontrast multidetector computed tomography from 2002 to 2005 to quantify CAC. We measured AAW as the distance between the cen...
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