Identification of an alternative 5'-untranslated exon and new polymorphisms of angiotensin-converting enzyme 2 gene: Lack of association with SARS in the Vietnamese population
Identification of an alternative 5'-untranslated exon and new polymorphisms of angiotensin-converting enzyme 2 gene: Lack of association with SARS in the Vietnamese population
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DOI：
10.1002/ajmg.a.30779
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发表时间：
2005-07-01
影响因子：
2
通讯作者：
Sasazuki, T
中科院分区：
文献类型：
--
作者：
Itoyama, S;Keicho, N;Sasazuki, T
我们分析了血管紧张素转换酶2（ACE 2）的遗传变异，认为它可能影响患者对严重急性呼吸综合征相关冠状病毒（SARS-CoV）的易感性或SARS的发展作为一个功能性受体。通过在肺中克隆ACE 2基因的全长cDNA，SARS-CoV在肺中进行复制，结果表明存在不同的剪接位点。对该基因的所有外显子（包括新的选择性外显子、外显子-内含子边界和相应的5 '侧翼区）进行了分析，发现了19个单核苷酸多态性（SNPs），其中13个SNPs是新发现的，包括1个非同义替换和3个3'-UTR多态性。一项涉及越南44例SARS病例、16名抗SARS-CoV抗体阳性接触者、87名抗体阴性接触者和50名非接触者的病例对照研究未能获得任何证据表明ACE 2基因多态性参与疾病过程人群。然而，新的5 '-非翻译外显子和新的SNPs的鉴定被认为有助于将来研究ACE 2基因表达调控。(c)2005 Wiley-Liss，Inc.
We analyzed genetic variations of angiotensin-converting enzyme 2 (ACE2), considering that it might influence patients' susceptibility to severe acute respiratory syndrome-associated coronavirus (SARS-CoV) or development of SARS as a functional receptor. By cloning of the full-length cDNA of the ACE2 gene in the lung, where replication occurs on SARS-CoV, it was shown that there are different splicing sites. All exons including the new alternative exon, exon-intron boundaries, and the corresponding 5'-flanking region of the gene were investigated and 19 single nucleotide polymorphisms (SNPs) were found. Out of these, 13 SNPs including one non-synonymous substitution and three 3'-UTR polymorphisms were newly identified. A case control study involving 44 SARS cases, 16 anti-SARS-CoV antibody-positive contacts, 87 antibody-negative contacts, and 50 non-contacts in Vietnam, failed to obtain any evidence that the ACE2 gene polymorphisms are involved in the disease process in the population. Nevertheless, identification of new 5'-untranslated exon and new SNPs is considered helpful in investigating regulation of ACE2 gene expression in the future. (c) 2005 Wiley-Liss, Inc.