Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.
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AuthorsKristjansson, Ragnar P
Arnadottir, Gudny A
Jensson, Brynjar O
Bragi Walters, G
Davidsson, Olafur B
Th Magnusson, Olafur
Eyjolfsson, Gudmundur I
Gudbjartsson, Daniel F
MetadataShow full item record
CitationNat Commun. 2016, 7:10572
AbstractCreatine 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.
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RightsArchived with thanks to Nature communications
- CKM and LILRB5 are associated with serum levels of creatine kinase.
- Authors: Dubé MP, Zetler R, Barhdadi A, Brown AM, Mongrain I, Normand V, Laplante N, Asselin G, Zada YF, Provost S, Bergeron J, Kouz S, Dufour R, Diaz A, de Denus S, Turgeon J, Rhéaume E, Phillips MS, Tardif JC
- Issue date: 2014 Dec
- A common missense variant of LILRB5 is associated with statin intolerance and myalgia.
- Authors: K Siddiqui M, Maroteau C, Veluchamy A, Tornio A, Tavendale R, Carr F, Abelega NU, Carr D, Bloch K, Hallberg P, Yue QY, Pearson ER, Colhoun HM, Morris AD, Dow E, George J, Pirmohamed M, Ridker PM, Doney ASF, Alfirevic A, Wadelius M, Maitland-van der Zee AH, Chasman DI, Palmer CNA, PREDICTION-ADR Consortium.
- Issue date: 2017 Dec 21
- Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.
- Authors: Whyte MP, Kempa LG, McAlister WH, Zhang F, Mumm S, Wenkert D
- Issue date: 2010 Nov
- [Simultaneous separation of creatine kinase and lactate dehydrogenase isoenzymes using an electrophoresis method].
- Authors: Ameliushkina VA, Bochkova NA, Cherniad'eva IF, Titov VN
- Issue date: 1990
- Time course of serum cardiac enzymes after intracoronary thrombolytic therapy. Creatine kinase, creatine kinase MB isozyme, lactate dehydrogenase, and serum glutamic-oxaloacetic transaminase.
- Authors: Wei JY, Markis JE, Malagold M, Grossman W
- Issue date: 1985 Sep