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Nat Commun. 2016 Feb 3;7:10572. doi: 10.1038/ncomms10572.

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

Author information

1
deCODE genetics/Amgen, Inc., 101 Reykjavik, Iceland.
2
School of Engineering and Natural Sciences, University of Iceland, 101 Reykjavik, Iceland.
3
Department of Internal Medicine, Landspitali The National University Hospital of Iceland, 101 Reykjavik, Iceland.
4
Department of Clinical Biochemistry, Akureyri Hospital, 600 Akureyri, Iceland.
5
Icelandic Medical Center (Laeknasetrid), Laboratory in Mjodd (RAM), 109 Reykjavik, Iceland.
6
Department of Clinical Biochemistry, Landspitali University Hospital, 101 Reykjavik, Iceland.
7
Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.

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.

PMID:
26838040
PMCID:
PMC4742860
DOI:
10.1038/ncomms10572
[Indexed for MEDLINE]
Free PMC Article

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