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Genetic architecture of band neutrophil fraction in Iceland

Genetic architecture of band neutrophil fraction in Iceland

Title: Genetic architecture of band neutrophil fraction in Iceland
Author: Oskarsson, Gudjon R.
Magnusson, Magnus K.
Oddsson, Asmundur   orcid.org/0000-0002-4606-5163
Jensson, Brynjar O.
Fridriksdottir, Run
Arnadottir, Gudny A.
Katrinardottir, Hildigunnur
Rognvaldsson, Solvi
Halldorsson, Gisli H.
Sveinbjornsson, Gardar   orcid.org/0000-0003-2429-9468
... 24 more authors Show all authors
Date: 2022-06-01
Language: English
Scope: 525
University/Institute: Landspitali - The National University Hospital of Iceland
School: Health Sciences
Department: Faculty of Medicine
Faculty of Industrial Engineering, Mechanical Engineering and Computer Science
Office of Division of Diagnostic and Support Services
Clinical Laboratory Services, Diagnostics and Blood Bank
Other departments
Series: Communications Biology; 5(1)
ISSN: 2399-3642
DOI: https://doi.org/10.1038/s42003-022-03462-1
Subject: Lífefna- og sameindalíffræði; Blóðlæknisfræði; Náttúrufræðingar; Genome-Wide Association Study; Granulocytes / metabolism; Humans; Iceland; Neutrophils / metabolism; Pelger-Huet Anomaly* / genetics; Neutrophils/metabolism; Pelger-Huet Anomaly/genetics; Granulocytes/metabolism; Agricultural and Biological Sciences (all); Biochemistry, Genetics and Molecular Biology (all); Medicine (miscellaneous)
URI: https://hdl.handle.net/20.500.11815/3478

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Oskarsson , G R , Magnusson , M K , Oddsson , A , Jensson , B O , Fridriksdottir , R , Arnadottir , G A , Katrinardottir , H , Rognvaldsson , S , Halldorsson , G H , Sveinbjornsson , G , Ivarsdottir , E V , Stefansdottir , L , Ferkingstad , E , Norland , K , Tragante , V , Saemundsdottir , J , Jonasdottir , A , Jonasdottir , A , Sigurjonsdottir , S , Petursdottir , K O , Davidsson , O B , Rafnar , T , Holm , H , Olafsson , I , Onundarson , P T , Vidarsson , B , Sigurdardottir , O , Masson , G , Gudbjartsson , D F , Jonsdottir , I , Norddahl , G L , Thorsteinsdottir , U , Sulem , P & Stefansson , K 2022 , ' Genetic architecture of band neutrophil fraction in Iceland ' , Communications Biology , vol. 5 , no. 1 , 525 , pp. 525 . https://doi.org/10.1038/s42003-022-03462-1


The characteristic lobulated nuclear morphology of granulocytes is partially determined by composition of nuclear envelope proteins. Abnormal nuclear morphology is primarily observed as an increased number of hypolobulated immature neutrophils, called band cells, during infection or in rare envelopathies like Pelger-Huët anomaly. To search for sequence variants affecting nuclear morphology of granulocytes, we performed a genome-wide association study using band neutrophil fraction from 88,101 Icelanders. We describe 13 sequence variants affecting band neutrophil fraction at nine loci. Five of the variants are at the Lamin B receptor (LBR) locus, encoding an inner nuclear membrane protein. Mutations in LBR are linked to Pelger-Huët anomaly. In addition, we identify cosegregation of a rare stop-gain sequence variant in LBR and Pelger Huët anomaly in an Icelandic eight generation pedigree, initially reported in 1963. Two of the other loci include genes which, like LBR, play a role in the nuclear membrane function and integrity. These GWAS results highlight the role proteins of the inner nuclear membrane have as important for neutrophil nuclear morphology.


© 2022. The Author(s).

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