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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.

journal_name

Nat Commun

journal_title

Nature communications

authors

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,Magnusson OT,Holm H,Sigurdardottir O

doi

10.1038/ncomms10572

subject

Has Abstract

pub_date

2016-02-03 00:00:00

pages

10572

issn

2041-1723

pii

ncomms10572

journal_volume

7

pub_type

杂志文章

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