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The Polygenic and Monogenic Basis of Blood Traits and Diseases.

Publication ,  Journal Article
Vuckovic, D; Bao, EL; Akbari, P; Lareau, CA; Mousas, A; Jiang, T; Chen, M-H; Raffield, LM; Tardaguila, M; Huffman, JE; Ritchie, SC; Megy, K ...
Published in: Cell
September 3, 2020

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. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory genetic variants and gene networks, identify novel splice-altering variants mediating the associations, and assess the polygenic prediction potential for blood traits and clinical disorders at the interface of complex and Mendelian genetics. These results show the power of large-scale blood cell trait GWAS to interrogate clinically meaningful variants across a wide allelic spectrum of human variation.

Duke Scholars

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Published In

Cell

DOI

EISSN

1097-4172

Publication Date

September 3, 2020

Volume

182

Issue

5

Start / End Page

1214 / 1231.e11

Location

United States

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Phenotype
  • Multifactorial Inheritance
  • Male
  • Humans
  • Hematopoiesis
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Gene Regulatory Networks
  • Female
 

Citation

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Chicago
ICMJE
MLA
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Vuckovic, D., Bao, E. L., Akbari, P., Lareau, C. A., Mousas, A., Jiang, T., … Soranzo, N. (2020). The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell, 182(5), 1214-1231.e11. https://doi.org/10.1016/j.cell.2020.08.008
Vuckovic, Dragana, Erik L. Bao, Parsa Akbari, Caleb A. Lareau, Abdou Mousas, Tao Jiang, Ming-Huei Chen, et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.Cell 182, no. 5 (September 3, 2020): 1214-1231.e11. https://doi.org/10.1016/j.cell.2020.08.008.
Vuckovic D, Bao EL, Akbari P, Lareau CA, Mousas A, Jiang T, et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell. 2020 Sep 3;182(5):1214-1231.e11.
Vuckovic, Dragana, et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.Cell, vol. 182, no. 5, Sept. 2020, pp. 1214-1231.e11. Pubmed, doi:10.1016/j.cell.2020.08.008.
Vuckovic D, Bao EL, Akbari P, Lareau CA, Mousas A, Jiang T, Chen M-H, Raffield LM, Tardaguila M, Huffman JE, Ritchie SC, Megy K, Ponstingl H, Penkett CJ, Albers PK, Wigdor EM, Sakaue S, Moscati A, Manansala R, Lo KS, Qian H, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala KN, Wilson PWF, Choquet H, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Felix SB, Floyd JS, Broer L, Grarup N, Guo MH, Guo Q, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Linneberg A, Liu Y, Lyytikäinen L-P, Manichaikul A, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nikus K, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif J-C, Ghanbari M, Völker U, Völzke H, Watkins NA, Weiss S, VA Million Veteran Program, Cai N, Kundu K, Watt SB, Walter K, Zonderman AB, Cho K, Li Y, Loos RJF, Knight JC, Georges M, Stegle O, Evangelou E, Okada Y, Roberts DJ, Inouye M, Johnson AD, Auer PL, Astle WJ, Reiner AP, Butterworth AS, Ouwehand WH, Lettre G, Sankaran VG, Soranzo N. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell. 2020 Sep 3;182(5):1214-1231.e11.
Journal cover image

Published In

Cell

DOI

EISSN

1097-4172

Publication Date

September 3, 2020

Volume

182

Issue

5

Start / End Page

1214 / 1231.e11

Location

United States

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Phenotype
  • Multifactorial Inheritance
  • Male
  • Humans
  • Hematopoiesis
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Gene Regulatory Networks
  • Female