Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 52-57 |
| Number of pages | 6 |
| Journal | American Journal of Medical Genetics |
| Volume | 136 A |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jul 1 2005 |
| Externally published | Yes |
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All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)
Cite this
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. / Itoyama, Satoru; Keicho, Naoto; Hijikata, Minako; Quy, Tran; Phi, Nguyen Chi; Long, Hoang Thuy; Ha, Le Dang; Van Ban, Vo; Matsushita, Ikumi; Yanai, Hideki; Kirikae, Fumiko; Kirikae, Teruo; Kuratsuji, Tadatoshi; Sasazuki, Takehiko.
In: American Journal of Medical Genetics, Vol. 136 A, No. 1, 01.07.2005, p. 52-57.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Identification of an alternative 5′-untranslated exon and new polymorphisms of angiotensin-converting enzyme 2 gene
T2 - Lack of association with SARS in the Vietnamese population
AU - Itoyama, Satoru
AU - Keicho, Naoto
AU - Hijikata, Minako
AU - Quy, Tran
AU - Phi, Nguyen Chi
AU - Long, Hoang Thuy
AU - Ha, Le Dang
AU - Van Ban, Vo
AU - Matsushita, Ikumi
AU - Yanai, Hideki
AU - Kirikae, Fumiko
AU - Kirikae, Teruo
AU - Kuratsuji, Tadatoshi
AU - Sasazuki, Takehiko
PY - 2005/7/1
Y1 - 2005/7/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=21644480682&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=21644480682&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.30779
DO - 10.1002/ajmg.a.30779
M3 - Article
C2 - 15937940
AN - SCOPUS:21644480682
VL - 136 A
SP - 52
EP - 57
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -