Imperial College London
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DrAlessiaDavid

Faculty of Natural Sciences, Department of Life Sciences

Lecturer in Bioinformatics and Data Intensive Biology
 
 
 
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Contact

 

+44 (0)20 7594 5333alessia.david09

 
 
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Location

 

Department of BioinformaticsSir Ernst Chain BuildingSouth Kensington Campus

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Summary

 

Publications

Citation

BibTex format

@article{David:2020:10.1002/mgg3.1248,
author = {David, A},
doi = {10.1002/mgg3.1248},
journal = {Molecular Genetics and Genomic Medicine},
pages = {1--9},
title = {A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin},
url = {http://dx.doi.org/10.1002/mgg3.1248},
volume = {8},
year = {2020}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - BackgroundSevere hypercholesterolemia (HC, LDLC > 4.9 mmol/L) affects over 30 million people worldwide. In this study, we validated a new polygenic risk score (PRS) for LDLC.MethodsSummary statistics from the Global Lipid Genome Consortium and genotype data from two large populations were used.ResultsA 36SNP PRS was generated using data for 2,197 white Americans. In a replication cohort of 4,787 Finns, the PRS was strongly associated with the LDLC trait and explained 8% of its variability (p = 10–41). After risk categorization, the risk of having HC was higher in the high versus lowrisk group (RR = 4.17, p < 1 × 10−7). Compared to a 12SNP LDLC raising score (currently used in the United Kingdom), the PRS explained more LDLC variability (8% vs. 6%). Among Finns with severe HC, 53% (66/124) versus 44% (55/124) were classified as high risk by the PRS and LDLC raising score, respectively. Moreover, 54% of individuals with severe HC defined as low risk by the LDLC raising score were reclassified to intermediate or high risk by the new PRS.ConclusionThe new PRS has a better predictive role in identifying HC of polygenic origin compared to the currently available method and can better stratify patients into diagnostic and therapeutic algorithms.
AU  - David,A
DO  - 10.1002/mgg3.1248
EP  - 9
PY  - 2020///
SN  - 2324-9269
SP  - 1
TI  - A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin
T2  - Molecular Genetics and Genomic Medicine
UR  - http://dx.doi.org/10.1002/mgg3.1248
UR  - https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.1248
UR  - http://hdl.handle.net/10044/1/78449
VL  - 8
ER  -
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