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首页> 外文期刊>Nature Communications >Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase
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Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

机译：与血清肌酸激酶和乳酸脱氢酶水平相关的常见和罕见变体

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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.
机译：肌酸激酶（CK）和乳酸脱氢酶（LDH）是广泛使用的组织损伤标志物。为了寻找影响CK和LDH血清水平的序列变体，通过对2,636名冰岛人进行全基因组测序而鉴定的2,830万个序列变体分别被推算给了63,159和98,585人进行了CK和LDH测量。在这里，我们描述了与血清CK相关的13个变异体和与LDH水平相关的16个变异体，其中包括四个与两者相关的变异体。在这些中，有15个是非同义变体，有12个次要等位基因频率低于5％。我们报告编码酶（CKM和LDHA）的基因序列变异，以及与肌肉（ANO5）和免疫/炎症功能（CD163 / CD163L1，CSF1，CFH，HLA-DQB1，LILRB5，NINJ1和STAB1）。许多基因与单核/吞噬细胞系统和从血清中清除酶有关。这突出了血清中酶水平的正常多样性来源的多样性。

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