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Phenome-wide association of protein function-altering variants in a family study

Description: PROJECT NARRATIVE This project will leverage existing genotypes and the extensive clinical and biomarker data in a population- based family study of American Indians to better understand the clinical implications of rare protein function- altering variants in populations. Findings from this study may have implications for precision medicine.
Funding type: research
Funder scheme: R21
Start date: 2017-09-15
End date: 2020-08-31
Investigator: NORA FRANCESCHINI
Institution: UNIV OF NORTH CAROLINA CHAPEL HILL
Subfield: Genetics
Funded outputs count: 49
Funder award ID: R21HL140385
OpenAlex ID: G4150031133
Admixture Mapping of Chronic Kidney Disease and Risk Factors in Hispanic/Latino Individuals From Central America Country of Origin
2024 · Andrea R.V.R. Horimoto, Quan Sun, et al. · Circulation Genomic and Precision Medicine · 6
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
2024 · Pedersen, O., Staley, J.R., et al. · Carolina Digital Repository (University of North Carolina at Chapel Hill) · 10
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Genome-Wide Admixture Mapping of Estimated Glomerular Filtration Rate and Chronic Kidney Disease Identifies European and African Ancestry-of-Origin Loci in Hispanic and Latino Individuals in the United States
2024 · Thornton, T.A., Cai, J., et al. · Carolina Digital Repository (University of North Carolina at Chapel Hill)
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Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci
2024 · Franceschini, N., Correa, A., et al. · Carolina Digital Repository (University of North Carolina at Chapel Hill)
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Discovery and fine-mapping of kidney function loci in first genome-wide association study in Africans
2024 · Kalyesubula, R., Burgess, S., et al. · Carolina Digital Repository (University of North Carolina at Chapel Hill)
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Trans-ethnic Mendelian-randomization study reveals causal relationships between cardiometabolic factors and chronic kidney disease
2024 · Li, J., Carnegie, R., et al. · Carolina Digital Repository (University of North Carolina at Chapel Hill)
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GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes
2024 · Harris, T.B., Jian, X., et al. · Carolina Digital Repository (University of North Carolina at Chapel Hill)
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Polygenic risk scores and kidney traits in the Hispanic/Latino population: The Hispanic Community Health Study/Study of Latinos
2023 · Laura Y. Zhou, Tamar Sofer, et al. · Human Genetics and Genomics Advances · 9
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies
2022 · Zilin Li, Xihao Li, et al. · Nature Methods · 105
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Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension
2022 · Tanika N. Kelly, Xiao Sun, et al. · Hypertension · 32
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Admixture mapping screening of CKD traits and risk factors in U.S. Hispanic/Latino individuals from Central America country-of-origin
2022 · Andrea R.V.R. Horimoto, Quan Sun, et al. · medRxiv · 1
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Association of protein function-altering variants with cardiometabolic traits: the strong heart study
2022 · Yue Shan, Shelley A. Cole, et al. · Scientific Reports · 2
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African ancestry genome-wide association study of blood pressure and hypertension identifies 25 novel loci through predicted gene expression
2022 · Jacklyn Hellwege, Jingjing Liang, et al. · Research Square · 1
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Rare coding variants in RCN3 are associated with blood pressure
2022 · Karen Y. He, Tanika N. Kelly, et al. · BMC Genomics · 9
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Genome-Wide Admixture Mapping of Estimated Glomerular Filtration Rate and Chronic Kidney Disease Identifies European and African Ancestry-of-Origin Loci in Hispanic and Latino Individuals in the United States.
2022 · Andrea R V R Horimoto, Diane Xue, et al. · PubMed Central · 11
Metabolome-wide association study of estimated glomerular filtration rates in Hispanics
2021 · Bridget M. Lin, Ying Zhang, et al. · Kidney International · 11
Genome-Wide Admixture Mapping of Estimated Glomerular Filtration Rate and Chronic Kidney Disease Identifies European and African Ancestry-of-Origin Loci in Hispanic and Latino Individuals in the United States
2021 · Andrea R.V.R. Horimoto, Diane Xue, et al. · Journal of the American Society of Nephrology · 20
Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease
2021 · Amand F Schmidt, Nicholas B Hunt, et al. · Nature Communications · 145
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Trans-ethnic Mendelian-randomization study reveals causal relationships between cardiometabolic factors and chronic kidney disease
2021 · Jie Zheng, Yuemiao Zhang, et al. · International Journal of Epidemiology · 124
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Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies
2021 · Quan Sun, Misa Graff, et al. · Journal of Human Genetics · 53
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Multi-omics insights into the biological mechanisms underlying gene-by-lifestyle interactions with smoking and alcohol consumption detected by genome-wide trans-ancestry meta-analysis
2021 · Timothy D. Majarian, Amy R. Bentley, et al. · medRxiv
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DNAm-based signatures of accelerated aging and mortality in blood are associated with low renal function
2021 · Pamela R. Matías-García, Cavin K. Ward-Caviness, et al. · Clinical Epigenetics · 39
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Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci
2021 · Charles E. Breeze, Anna Batorsky, et al. · Genome Medicine · 51
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Multi-ancestry genome-wide gene–sleep interactions identify novel loci for blood pressure
2021 · Heming Wang, Raymond Noordam, et al. · Molecular Psychiatry · 23
A System for Phenotype Harmonization in the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Program
2021 · Adrienne M Stilp, Leslie S Emery, et al. · American Journal of Epidemiology · 56
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