Cassandra N. Spracklen
University of Massachusetts Amherst
GeneExomeGenome-wide association studyInternal medicineObstetricsEndocrinologyCase-control studySingle-nucleotide polymorphismExpression quantitative trait lociAlleleGenetic associationAdiponectinType 2 diabetesPreeclampsiaPregnancyBody mass indexPopulationGynecologyObesityGeneticsMedicineLocus (genetics)Biology
51Publications
18H-index
1,236Citations
Publications 48
Newest
#1Ji Chen (University of Exeter)H-Index: 1
#2Cassandra N. Spracklen (UNC: University of North Carolina at Chapel Hill)H-Index: 18
Last. Inês Barroso (University of Exeter)H-Index: 109
view all 405 authors...
Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on individuals of European ancestry. Here we aggregated genome-wide association studies comprising up to 281,416 individuals without diabetes (30% non-European ancestry) for whom fasting glucose, 2-h glucose after an oral glucose challenge, glycated hemoglobin and fasting insulin data were available. Trans-ancestry and single-ancestry meta-ana...
Source
#8Ying WuH-Index: 42
#1Anubha Mahajan (University of Oxford)H-Index: 68
#2Cassandra N. Spracklen (UNC: University of North Carolina at Chapel Hill)H-Index: 18
Last. Andrew P. Morris (University of Manchester)H-Index: 106
view all 246 authors...
We assembled an ancestrally diverse collection of genome-wide association studies of type 2 diabetes (T2D) in 180,834 cases and 1,159,055 controls (48.9% non-European descent). We identified 277 loci at genome-wide significance (p 50% posterior probability. This improved fine-mapping enabled systematic assessment of candidate causal genes and molecular mechanisms through which T2D associations are mediated, laying foundations for functional investigations. Trans-ancestry genetic risk scores enha...
5 CitationsSource
#1Cassandra N. Spracklen (UNC: University of North Carolina at Chapel Hill)H-Index: 18
#2Apoorva K Iyengar (UNC: University of North Carolina at Chapel Hill)H-Index: 6
Last. Karen L. Mohlke (UNC: University of North Carolina at Chapel Hill)H-Index: 102
view all 25 authors...
Loci identified in genome-wide association studies (GWAS) can include multiple distinct association signals. We sought to identify the molecular basis of multiple association signals for adiponectin, a hormone involved in glucose regulation secreted almost exclusively from adipose tissue, identified in the Metabolic Syndrome in Men (METSIM) study. With GWAS data for 9,262 men, four loci were significantly associated with adiponectin: ADIPOQ, CDH13, IRS1, and PBRM1. We performed stepwise conditio...
1 CitationsSource
#1Dragana Vuckovic (NIHR: National Institute for Health Research)H-Index: 21
#1Dragana Vuckovic (NIHR: National Institute for Health Research)H-Index: 1
Last. Nicole Soranzo (NIHR: National Institute for Health Research)H-Index: 120
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Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis...
34 CitationsSource
#1Ming-Huei ChenH-Index: 43
#2Laura M. Raffield (UNC: University of North Carolina at Chapel Hill)H-Index: 20
Last. Guillaume Lettre (UdeM: Université de Montréal)H-Index: 62
view all 111 authors...
Summary Most loci identified by GWASs have been found in populations of European ancestry (EUR). In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including 184,535 non-EUR individuals, we identified 5,552 trait-variant associations at p
30 CitationsSource
#1Cassandra N. Spracklen (UMass: University of Massachusetts Amherst)H-Index: 18
#2Momoko HorikoshiH-Index: 22
Last. Xueling Sim (NUS: National University of Singapore)H-Index: 56
view all 112 authors...
Meta-analyses of genome-wide association studies (GWAS) have identified more than 240 loci that are associated with type 2 diabetes (T2D)1,2; however, most of these loci have been identified in analyses of individuals with European ancestry. Here, to examine T2D risk in East Asian individuals, we carried out a meta-analysis of GWAS data from 77,418 individuals with T2D and 356,122 healthy control individuals. In the main analysis, we identified 301 distinct association signals at 183 loci, and a...
37 CitationsSource
#1Wujuan Zhong (UNC: University of North Carolina at Chapel Hill)H-Index: 6
#2Li Dong (UNC: University of North Carolina at Chapel Hill)H-Index: 2
Last. Xiaojing Zheng (UNC: University of North Carolina at Chapel Hill)H-Index: 7
view all 10 authors...
Construction of regulatory networks using cross-sectional expression profiling of genes is desired, but challenging. The Directed Acyclic Graph (DAG) provides a general framework to infer causal effects from observational data. However, most existing DAG methods assume that all nodes follow the same type of distribution, which prohibit a joint modeling of continuous gene expression and categorical variables. We present a new mixed DAG (mDAG) algorithm to infer the regulatory pathway from mixed o...
2 CitationsSource
#1Dragana Vuckovic (Wellcome Trust Sanger Institute)H-Index: 1
#1Dragana VuckovicH-Index: 21
Last. Nicole Soranzo (Wellcome Trust Sanger Institute)H-Index: 120
view all 112 authors...
Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including 563,946 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering the full allele frequency spectrum of variation impacting he...
11 CitationsSource
#1Laura M. Raffield (UNC: University of North Carolina at Chapel Hill)H-Index: 20
#2Apoorva K Iyengar (UNC: University of North Carolina at Chapel Hill)H-Index: 6
Last. Paul L. Auer (UWM: University of Wisconsin–Milwaukee)H-Index: 48
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Whole-genome sequencing (WGS) can improve assessment of low-frequency and rare variants, particularly in non-European populations that have been underrepresented in existing genomic studies. The genetic determinants of C-reactive protein (CRP), a biomarker of chronic inflammation, have been extensively studied, with existing genome-wide association studies (GWASs) conducted in >200,000 individuals of European ancestry. In order to discover novel loci associated with CRP levels, we examined a mul...
2 CitationsSource