Investigating the role of site specific synonymous variation in disease association studies
Investigating the role of site specific synonymous variation in disease association studies
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DOI：
10.1016/j.mito.2013.12.005
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发表时间：
2014-05-01
期刊：
影响因子：
4.4
通讯作者：
Bhardwaj, Anshu
中科院分区：
文献类型：
--
作者：
Bhardwaj, Anshu
同义密码子变化可能并不总是中性的，表明它们在疾病关联研究中的重要性，而这一点几乎总是被忽视。同义替换可能会影响蛋白质折叠率，导致蛋白质错误折叠和聚集。对 2301 个线粒体基因组进行全基因组分析，以评估同义密码子在疾病关联研究中的重要性。分析揭示了线粒体基因中多个位点的稀有密码子的使用，其中疏水性氨基酸的稀有密码子使用率更高。该分析表明，应使用位点特异性密码子使用值来分析关联研究中的变异数据，以推断同义变化的潜在表型影响。 (C) 2014 年 Elsevier B.V. 和线粒体研究协会。版权所有。
Synonymous codon changes may not always be neutral indicating their significance in disease association studies, which is almost always overlooked. Synonymous substitutions may affect protein-folding rates leading to protein misfolding and aggregation. Genome wide analysis of 2301 mitochondrial genomes is performed to evaluate the significance of synonymous codons in disease association studies. The analysis revealed usage of rare codons at several sites in mitochondrial genes with rare codon usage higher for hydrophobic amino acids. The analysis suggests that variation data in association studies should be analyzed using site-specific codon usage values to infer the potential phenotypic impact of synonymous changes. (C) 2014 Elsevier B.V. and Mitochondria Research Society. All rights reserved.