CORE
🇺🇦
make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Genetic architecture of band neutrophil fraction in Iceland
Authors
Gudny A. Arnadottir
Olafur B. Davidsson
+32 more
Egil Ferkingstad
Run Fridriksdottir
Daniel F. Gudbjartsson
Gisli H. Halldorsson
Hilma Holm
Erna V. Ivarsdottir
Brynjar O. Jensson
Adalbjorg Jonasdottir
Aslaug Jonasdottir
Ingileif Jonsdottir
Hildigunnur Katrinardottir
Magnus K. Magnusson
Gisli Masson
Gudmundur L. Norddahl
Kristjan Norland
Asmundur Oddsson
Isleifur Olafsson
Pall T. Onundarson
Gudjon R. Oskarsson
Karen O. Petursdottir
Thorunn Rafnar
Solvi Rognvaldsson
Jona Saemundsdottir
Olof Sigurdardottir
Svanhvit Sigurjonsdottir
Lilja Stefansdottir
Kari Stefansson
Patrick Sulem
Gardar Sveinbjornsson
Unnur Thorsteinsdottir
Vinicius Tragante
Brynjar Vidarsson
Publication date
1 June 2022
Publisher
'Springer Science and Business Media LLC'
Doi
Cite
View
on
PubMed
Abstract
Publisher Copyright: © 2022, The Author(s).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.Peer reviewe
Similar works
Full text
Open in the Core reader
Download PDF
Available Versions
Opin visindi
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:opinvisindi.is:20.500.1181...
Last time updated on 09/10/2022
PubMed Central
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:pubmedcentral.nih.gov:9160...
Last time updated on 14/08/2022