Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

Ragnar P. Kristjansson, Asmundur Oddsson, Hannes Helgason, Gardar Sveinbjornsson, Gudny A. Arnadottir, Brynjar O. Jensson, Aslaug Jonasdottir, Adalbjorg Jonasdottir, G. Bragi Walters, Gerald Sulem, Arna Oskarsdottir, Stefania Benonisdottir, Olafur B. Davidsson, Gisli Masson, Olafur Th Magnusson, Hilma Holm, Olof Sigurdardottir, Ingileif Jonsdottir, Gudmundur I. Eyjolfsson, Isleifur Olafsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Patrick Sulem () and Kari Stefansson ()
Additional contact information
Ragnar P. Kristjansson: deCODE genetics/Amgen, Inc.
Asmundur Oddsson: deCODE genetics/Amgen, Inc.
Hannes Helgason: deCODE genetics/Amgen, Inc.
Gardar Sveinbjornsson: deCODE genetics/Amgen, Inc.
Gudny A. Arnadottir: deCODE genetics/Amgen, Inc.
Brynjar O. Jensson: deCODE genetics/Amgen, Inc.
Aslaug Jonasdottir: deCODE genetics/Amgen, Inc.
Adalbjorg Jonasdottir: deCODE genetics/Amgen, Inc.
G. Bragi Walters: deCODE genetics/Amgen, Inc.
Gerald Sulem: deCODE genetics/Amgen, Inc.
Arna Oskarsdottir: deCODE genetics/Amgen, Inc.
Stefania Benonisdottir: deCODE genetics/Amgen, Inc.
Olafur B. Davidsson: deCODE genetics/Amgen, Inc.
Gisli Masson: deCODE genetics/Amgen, Inc.
Olafur Th Magnusson: deCODE genetics/Amgen, Inc.
Hilma Holm: deCODE genetics/Amgen, Inc.
Olof Sigurdardottir: Akureyri Hospital
Ingileif Jonsdottir: deCODE genetics/Amgen, Inc.
Gudmundur I. Eyjolfsson: Icelandic Medical Center (Laeknasetrid), Laboratory in Mjodd (RAM)
Isleifur Olafsson: Landspitali University Hospital
Daniel F. Gudbjartsson: deCODE genetics/Amgen, Inc.
Unnur Thorsteinsdottir: deCODE genetics/Amgen, Inc.
Patrick Sulem: deCODE genetics/Amgen, Inc.
Kari Stefansson: deCODE genetics/Amgen, Inc.

Nature Communications, 2016, vol. 7, issue 1, 1-8

Abstract: Abstract Creatine kinase (CK) and lactate dehydrogenase (LDH) are widely used markers of tissue damage. To search for sequence variants influencing serum levels of CK and LDH, 28.3 million sequence variants identified through whole-genome sequencing of 2,636 Icelanders were imputed into 63,159 and 98,585 people with CK and LDH measurements, respectively. Here we describe 13 variants associating with serum CK and 16 with LDH levels, including four that associate with both. Among those, 15 are non-synonymous variants and 12 have a minor allele frequency below 5%. We report sequence variants in genes encoding the enzymes being measured (CKM and LDHA), as well as in genes linked to muscular (ANO5) and immune/inflammatory function (CD163/CD163L1, CSF1, CFH, HLA-DQB1, LILRB5, NINJ1 and STAB1). A number of the genes are linked to the mononuclear/phagocyte system and clearance of enzymes from the serum. This highlights the variety in the sources of normal diversity in serum levels of enzymes.

Date: 2016
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DOI: 10.1038/ncomms10572

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