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; Kari Stefansson

doi:10.1038/ncomms10572

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, Kari Stefansson

University of Iceland, Reykjavik University, Landspitali

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Article number	10572
Journal	Nature Communications
Volume	7
DOIs	https://doi.org/10.1038/ncomms10572
Publication status	Published - 3 Feb 2016

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Kristjansson, R. P., Oddsson, A., Helgason, H., Sveinbjornsson, G., Arnadottir, G. A., Jensson, B. O., Jonasdottir, A., Jonasdottir, A., Bragi Walters, G., Sulem, G., Oskarsdottir, A., Benonisdottir, S., Davidsson, O. B., Masson, G., Th Magnusson, O., Holm, H., Sigurdardottir, O., Jonsdottir, I., Eyjolfsson, G. I., ... Stefansson, K. (2016). Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase. Nature Communications, 7, Article 10572. https://doi.org/10.1038/ncomms10572

@article{a80b7ed171b44c7b828a33181e7e98d5,

title = "Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase",

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.",

author = "Kristjansson, \{Ragnar P.\} and Asmundur Oddsson and Hannes Helgason and Gardar Sveinbjornsson and Arnadottir, \{Gudny A.\} and Jensson, \{Brynjar O.\} and Aslaug Jonasdottir and Adalbjorg Jonasdottir and \{Bragi Walters\}, G. and Gerald Sulem and Arna Oskarsdottir and Stefania Benonisdottir and Davidsson, \{Olafur B.\} and Gisli Masson and \{Th Magnusson\}, Olafur and Hilma Holm and Olof Sigurdardottir and Ingileif Jonsdottir and Eyjolfsson, \{Gudmundur I.\} and Isleifur Olafsson and Gudbjartsson, \{Daniel F.\} and Unnur Thorsteinsdottir and Patrick Sulem and Kari Stefansson",

year = "2016",

month = feb,

day = "3",

doi = "10.1038/ncomms10572",

language = "English",

volume = "7",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Nature Research",

}

Kristjansson, RP, Oddsson, A, Helgason, H, Sveinbjornsson, G, Arnadottir, GA, Jensson, BO, Jonasdottir, A, Jonasdottir, A, Bragi Walters, G, Sulem, G, Oskarsdottir, A, Benonisdottir, S, Davidsson, OB, Masson, G, Th Magnusson, O, Holm, H, Sigurdardottir, O, Jonsdottir, I, Eyjolfsson, GI, Olafsson, I, Gudbjartsson, DF, Thorsteinsdottir, U, Sulem, P & Stefansson, K 2016, 'Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase', Nature Communications, vol. 7, 10572. https://doi.org/10.1038/ncomms10572

TY - JOUR

T1 - Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

AU - Kristjansson, Ragnar P.

AU - Oddsson, Asmundur

AU - Helgason, Hannes

AU - Sveinbjornsson, Gardar

AU - Arnadottir, Gudny A.

AU - Jensson, Brynjar O.

AU - Jonasdottir, Aslaug

AU - Jonasdottir, Adalbjorg

AU - Bragi Walters, G.

AU - Sulem, Gerald

AU - Oskarsdottir, Arna

AU - Benonisdottir, Stefania

AU - Davidsson, Olafur B.

AU - Masson, Gisli

AU - Th Magnusson, Olafur

AU - Holm, Hilma

AU - Sigurdardottir, Olof

AU - Jonsdottir, Ingileif

AU - Eyjolfsson, Gudmundur I.

AU - Olafsson, Isleifur

AU - Gudbjartsson, Daniel F.

AU - Thorsteinsdottir, Unnur

AU - Sulem, Patrick

AU - Stefansson, Kari

PY - 2016/2/3

Y1 - 2016/2/3

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/84957548415

U2 - 10.1038/ncomms10572

DO - 10.1038/ncomms10572

M3 - Article

C2 - 26838040

SN - 2041-1723

VL - 7

JO - Nature Communications

JF - Nature Communications

M1 - 10572

ER -

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

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