دورية أكاديمية
Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.
| العنوان: | Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase. |
|---|---|
| المؤلفون: | Kristjansson, Ragnar P, Oddsson, Asmundur, Helgason, Hannes, Sveinbjornsson, Gardar, Arnadottir, Gudny A, Jensson, Brynjar O, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Bragi Walters, G, Sulem, Gerald, Oskarsdottir, Arna, Benonisdottir, Stefania, Davidsson, Olafur B, Masson, Gisli, Th Magnusson, Olafur, Holm, Hilma, Sigurdardottir, Olof, Jonsdottir, Ingileif, Eyjolfsson, Gudmundur I, Olafsson, Isleifur, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari |
| المساهمون: | 1 DeCODE Genet Amgen Inc, IS-101 Reykjavik, Iceland 2 Univ Iceland, Sch Engn & Nat Sci, IS-101 Reykjavik, Iceland 3 Landspitali Natl Univ Hosp Iceland, Dept Internal Med, IS-101 Reykjavik, Iceland 4 Akureyri Hosp, Dept Clin Biochem, IS-600 Akureyri, Iceland 5 Iceland Med Ctr Laeknasetrid, Lab Mjodd RAM, IS-109 Reykjavik, Iceland 6 Landspitali Univ Hosp, Dept Clin Biochem, IS-101 Reykjavik, Iceland Organization-Enhanced Name(s) Landspitali National University Hospital 7 Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland |
| بيانات النشر: | Nature Publishing Group |
| سنة النشر: | 2016 |
| المجموعة: | Hirsla - Landspítali University Hospital research archive |
| مصطلحات موضوعية: | MAB12, CAR12, Creatine Kinase, L-Lactate Dehydrogenase |
| الوصف: | To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access. ; 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 2041-1723 |
| العلاقة: | http://dx.doi.orgTest/ 10.1038/ncomms10572; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4742860Test/; Nat Commun. 2016, 7:10572; http://hdl.handle.net/2336/607146Test; Nature communications |
| DOI: | 10.1038/ncomms10572 |
| الإتاحة: | https://doi.org/10.1038/ncomms10572Test http://hdl.handle.net/2336/607146Test |
| حقوق: | Archived with thanks to Nature communications ; Open Access |
| رقم الانضمام: | edsbas.4A35D881 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 20411723 |
|---|---|
| DOI: | 10.1038/ncomms10572 |