Genetic Variation in Metabolizing Enzyme and Transporter Genes: Comprehensive Assessment in 3 Major East Asian Subpopulations With Comparison to Caucasians and Africans

Man, Michael; Farmen, Mark W.; Dumaual, Carmen M.; Teng, Choo Hua; Moser, Brian A.; Irie, Shin; Noh, Gyu Jeong; Njau, Reuben K.; Close, Sandra; Wise, Stephen D.; Hockett, Richard D.

doi:10.1177/0091270009355161

Cited by 193 publications

(125 citation statements)

References 80 publications

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“…Genetic variations among three major East Asian subpopulations (Japanese, Korean and Chinese) have also been reported with respect to enzymes, including the CYP19*3 variant (Man et al, 2010), although variations are much smaller than between Europeans and Africans. However, there have been no reports regarding the genetic heterogeneity of enzymes involved in AA metabolism, and few studies have described the relationship between PFAA profiles and either ethnicity or subpopulations.…”

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confidence: 96%

“…It has been reported that the frequency of single nucleotide polymorphisms in certain enzymes involved in drug metabolism is associated with ethnicity (Man et al, 2010). Genetic variations among three major East Asian subpopulations (Japanese, Korean and Chinese) have also been reported with respect to enzymes, including the CYP19*3 variant (Man et al, 2010), although variations are much smaller than between Europeans and Africans.…”

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confidence: 99%

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Plasma amino acid profiles in healthy East Asian subpopulations living in Japan

Nakamura

Nishikata

Kawai

et al. 2015

American J Hum Biol

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ObjectivesProfiles of plasma free amino acids (PFAAs) have been utilized as biomarkers to detect various diseases. However, few studies have investigated whether ethnicity or specific subpopulations within East Asia influence PFAA concentrations.MethodsA total of 95 healthy volunteers living in Japan, including 31 Japanese individuals, 36 Korean individuals and 28 Chinese individuals, were enrolled. Participants’ PFAA levels were measured by high‐performance liquid chromatography mass spectrometry, and the effects of factors such as sex, age, body mass index (BMI) and subpopulation on PFAA profiles were analyzed.ResultsWith the exception of glutamine and α‐aminobutyric acid, there were no significant differences among the three examined subpopulations with respect to either the means or the distributions of PFAA concentrations. A multiple regression analysis revealed that most of the PFAA concentrations were significantly related to sex. Ornithine concentrations, glutamate concentrations, and glutamine and α‐aminobutyric acid concentrations were significantly associated with age, BMI, and Chinese subpopulation, respectively.ConclusionThe study results indicate that the contributions of subpopulation within East Asia to PFAA profiles are small, particularly relative to the contributions provided by sex. Am. J. Hum. Biol. 28:236–239, 2016. © 2015 The Authors American Journal of Human Biology Published by Wiley Periodicals, Inc.

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confidence: 96%

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Plasma amino acid profiles in healthy East Asian subpopulations living in Japan

Nakamura

Nishikata

Kawai

et al. 2015

American J Hum Biol

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“…These include Brazil, 35 Iran, 36,37 East Asia, 38 Ghana, 39 United States Ashkenazi Jews, 40 Greece, 41 Mexican Americans, 42 Bolivia, 43 Israel, 44 Malaysia, 45 Egypt, 46 and whites of European descent. 47 However, these studies were limited to a small number of deficiency alleles and did not include the *17 gain-of-function allele.…”

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Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory

Strom

Goos

Crossley

et al. 2012

Genetics in Medicine

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Purpose:We sought to determine the genotype frequencies for cytochrome p450 enzyme 2C19 variant alleles both in the US panethnic population and various US ethnic groups and to establish the frequency of clinically actionable genotypes. methods:Analytical results were obtained from 1,396 consecutive samples submitted for cytochrome p450 enzyme 2C19 genotyping tests and stored in a proprietary database. This database was queried and genotypes and predicted phenotypes established. Anonymized samples were obtained from specimens submitted for cystic fibrosis genotyping that contained ethnicity information. Samples from 357, 149, and 346 individuals self-identified as white, African American, and Hispanic, respectively, were analyzed. In addition, 342 anonymized samples submitted for Ashkenazi Jewish panel testing were analyzed.Results: Significant ethnic differences were observed in the frequencies of the *17 ultrarapid allele among the various groups studied. In the pan-ethnic population, 3.8% of tested patients were classified as ultrarapid metabolizers, 24% as extensive metabolizers heterozygous for a *17 ultrarapid allele, 27% as intermediate metabolizers, and 3.5% as poor metabolizers. Using stringent criteria, 7.3% of individuals would have clinically actionable genotypes. In addition, we detected two individuals with a haplotype of *2/*17 and a single individual with a haplotype of *4/*17 indicating that the *17 hypermetabolic allele can occur on a *1, *2, or *4 background.Genet Med 2012:14(1):95-100

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“…Recently, global clinical trials have been conducted throughout the globe in line with the guidelines of the ICH-GCP [1][2][3][4][5][6][7]. On the other hand, the inspection result from other Asian countries has not yet been accessible.…”

Section: Discussionmentioning

confidence: 99%

“…Recently global clinical trials have been conducted not only in developed countries but also in developing countries based on the International Conference on Harmonization of Technical Requirements for Registration of Pharmaceuticals for Human Use of Good Clinical Practice (ICH-GCP) guidelines [1][2][3][4][5][6][7]. To deliver the new, effective drugs to patients as rapid as possible, the guidelines have been playing the very important role to ensure the quality of clinical trials.…”

Section: Introductionmentioning

confidence: 99%

Current Situation of Clinical Trials in Nanchang, China

Yoshida¹,

Fan²,

Yoshida³

et al. 2017

Health Edu Care

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Purpose: Recently global clinical trials are conducted vigorously and rigorously in line with the guideline of the International Conference on Harmonization of Technical Requirements for Registration of Pharmaceuticals for Human Use of Good Clinical Practice. Since to confirm the current situation of clinical trials in Asia is critical for improving the practice of global clinical trials, we conducted the research in Beijing and in Shanghai consequently. But China is such a huge country that it is difficult for us to evaluate the whole country's situation by evaluating data of two largest cities. Therefore the purpose of this study is to conduct the research on the detail of current situation of clinical trials in Nanchang, 25 th largest city in China. Methods:Questionnaires were administered to medical doctors belonging to institutes affiliated to Nanchang University in Nanchang, 25 th largest city in China. Results:The questionnaires were administered to 192 medical doctors and 172 of them were analyzed. There were significant differences between institutes in relation to getting reports from the external authorities after audits and inspections by external authorities. In total, 70.0%, 88.0%, and 100

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Genetic Variation in Metabolizing Enzyme and Transporter Genes: Comprehensive Assessment in 3 Major East Asian Subpopulations With Comparison to Caucasians and Africans

Cited by 193 publications

References 80 publications

Plasma amino acid profiles in healthy East Asian subpopulations living in Japan

Plasma amino acid profiles in healthy East Asian subpopulations living in Japan

Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory

Current Situation of Clinical Trials in Nanchang, China

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