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Article

Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Nature genetics - 1 Jun 2014

Auer Paul L, Teumer Alexander, Schick Ursula, O'Shaughnessy Andrew, Lo Ken Sin, Chami Nathalie, Carlson Chris, de Denus Simon, Dubé Marie-Pierre, Haessler Jeff, Jackson Rebecca D, Kooperberg Charles, Perreault Louis-Philippe Lemieux, Nauck Matthias, Peters Ulrike, Rioux John D, Schmidt Frank, Turcot Valérie, Völker Uwe, Völzke Henry, Greinacher Andreas, Hsu Li, Tardif Jean-Claude, Diaz George A, Reiner Alexander P, Lettre Guillaume

Abstract excerpt

Hematological traits are important clinical parameters. To test the effects of rare and low-frequency coding variants on hematological traits, we analyzed hemoglobin concentration, hematocrit levels, white blood cell (WBC) counts and platelet counts in 31,340 individuals genotyped on an exome array. We identified several missense variants in CXCR2 associated with reduced WBC count (gene-based P = 2.6 × 10(-13))....

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Source

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Identifiers

PMID: 24777453
DOI: 10.1038/ng.2962
PMCID: PMC4050975

Genes

CXCR2
EPO
HBB
JAK2
TFR2
TUBB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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