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Editorial
. 2021 Feb 18;137(7):869-870.
doi: 10.1182/blood.2020009461.

eQTLs in platelets and iPSC-megakaryocytes

Elizabeth A Middleton  1 , Jesse W Rowley  1
Affiliations
Editorial

eQTLs in platelets and iPSC-megakaryocytes

Elizabeth A Middleton et al. Blood. .

Abstract

In this issue of Blood, the study by Kammers et al identifies genetic variants associated with gene expression in 290 platelet and 185 induced pluripotent stem cell (iPSC) megakaryocyte (MK) samples to fill in missing links between genotype and platelet phenotypes.

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Conflict of interest statement

Conflict-of-interest disclosure: The authors declare no competing financial interests.

Conflict-of-interest disclosure: The authors declare no competing financial interests.

Figures

None
(A) Schematic representation of eQTLs identified in iPSC-derived MKs (n = 185) and platelets (n = 290) from healthy donors. Of eQTLs identified in MKs and platelets, 74.9% and 84.3%, respectively, were unique to tissue type. Three hundred twenty-three eGenes and 57 matching lead cis-eQTLs were in both MKs and platelets, and 6 map to GWAS identified platelet traits. (B) eQTLs are genetic variants, or differences in DNA between individuals (depicted by the A [blue] vs C [purple] nucleotides) that are associated with RNA abundance. eQTLs in both platelets and MKs were enriched in MK regulatory regions, such as enhancers linking differential regulation of transcription in MKs to RNA abundance carried over into platelets. These differences may in turn impact proteins, phenotypes, and function in health and disease.
See this image and copyright information in PMC

Comment on

References

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