ACE2 Gene Polymorphisms Do Not Affect Outcome of Severe Acute Respiratory Syndrome

Chiu, Rossa W.K.; Tang, Nelson L.S.; Hui, David S.; Chung, Grace Tin‐Yun; Chim, Stephen S.C.; Chan, Kenneth Chun-Ho; Sung, Ying Man; Chan, Loi Yuen; Yu, Tong; Lee, Wing Shan; Chan, Paul K.S.; Lo, Y.M. Dennis

doi:10.1373/clinchem.2004.035436

Cited by 78 publications

(84 citation statements)

References 14 publications

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“…The MAF differences may be owing to founder effect or genetic drift. Furthermore, the SNPs studied have similar MAFs in our study and in Chiu et al's study 10 and in the study of Lieb et al 5 (except rs2285666), but not in the study by Benjafield et al 4 (with relatively small sample), suggesting Chinese and Caucasian populations roughly have similar MAFs, respectively.…”

supporting

confidence: 77%

“…For rs2285666 and rs4646142, the allele frequencies in our study are similar to those in other studies of Chinese population both with respect to females and males. 6,10 For rs1978124 and rs2285666, the MAF in Chinese Population is much higher than that in Australian and German populations. [4][5][6]10 For rs879922, the MAF in Australians is as high as 0.42 in females and 0.31 in males, and up to 0.36 in females and 0.33 in males in Germans, but it was lower than 0.05 in our study.…”

mentioning

confidence: 98%

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Association study of angiotensin-converting enzyme 2 gene (ACE2) polymorphisms and essential hypertension in northern Han Chinese

et al. 2006

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supporting

confidence: 77%

mentioning

confidence: 98%

Association study of angiotensin-converting enzyme 2 gene (ACE2) polymorphisms and essential hypertension in northern Han Chinese

et al. 2006

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“…Thus the findings of the present study do not contradict these previous observations in humans. [20].…”

Section: Discussionmentioning

confidence: 99%

“…‡ Data from Benjafield et al [15] The three SNPs have also been genotyped in previous studies [15,20] and thus the MAFs were able to be compared with those from the present study. As shown in Table 4, MAFs for 8790A/G and 16854G/C in our present study were approximately equal to that in a Hong Kong Chinese population [20], but these were much lower for 1075A/G and 8790A/G in an Australian Caucasian population of Anglo-Celtic origin in both males and females [15].…”

Section: Discussionmentioning

confidence: 99%

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Association study of ACE2 (angiotensin I-converting enzyme 2) gene polymorphisms with coronary heart disease and myocardial infarction in a Chinese Han population

Yang

Huang

et al. 2006

Clinical Science

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Results are accumulating that ACE2 (angiotensin I-converting enzyme 2) might act as a protective protein for cardiovascular diseases; however, only a few studies in human populations have been carried out. This prompted us to perform a case-control study to investigate the relationship of ACE2 polymorphisms with CHD (coronary heart disease) and MI (myocardial infarction). Three single nucleotide polymorphisms in the ACE2 gene (1075A/G, 8790A/G and 16854G/C) were genotyped by PCR-RFLP (restriction-fragment-length polymorphism) in 811 patients with CHD (of which 508 were patients with MI) and 905 normal controls in a Chinese population. The polymorphisms were in linkage disequilibrium (r(2)=0.854-0.973). Analyses were conducted by gender, because the ACE2 gene is on the X chromosome. In females, an association was detected with MI for 1075A/G (P=0.026; odds ratio=1.98) and 16854G/C (P=0.028; odds ratio=1.97) in recessive models after adjusting for covariates. In male subjects, two haplotypes (AAG and GGC) were common in frequency. In male subjects not consuming alcohol, the haplotype GGC was associated with a 1.76-fold risk of CHD [95% CI (confidence interval), 1.15-2.69; P=0.007] and a 1.77-fold risk of MI (95% CI, 1.12-2.81; P=0.015) with environmental factors adjusted, when compared with the most common haplotype AAG. In conclusion, the results of the present study indicate that common genetic variants in the ACE2 gene might impact on MI in females, and may possibly interact with alcohol consumption to affect the risk of CHD and MI in Chinese males.

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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

Keicho

Hijikata

et al. 2005

American J of Med Genetics Pt A

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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.

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ACE2 Gene Polymorphisms Do Not Affect Outcome of Severe Acute Respiratory Syndrome

Cited by 78 publications

References 14 publications

Association study of angiotensin-converting enzyme 2 gene (ACE2) polymorphisms and essential hypertension in northern Han Chinese

Association study of angiotensin-converting enzyme 2 gene (ACE2) polymorphisms and essential hypertension in northern Han Chinese

Association study of ACE2 (angiotensin I-converting enzyme 2) gene polymorphisms with coronary heart disease and myocardial infarction in a Chinese Han 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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