Haplotype analysis of UDP-glucuronocyltransferase 2B7 gene (UGT2B7) polymorphisms in healthy Japanese subjects

Saito, Katsuhiko; Moriya, Hajime; Sawaguchi, Takeru; Hayakawa, Takako; Nakahara, Seiya; Gotō, Akira; Arimura, Yoshiaki; Imai, Kohzoh; Kurosawa, Nahoko; Owada, Eiji; Miyamoto, Atsushi

doi:10.1016/j.clinbiochem.2006.01.002

Cited by 36 publications

(29 citation statements)

References 19 publications

(35 reference statements)

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“…Finally, we did not observe the variant allele 1192A in any study sample, suggesting that 1192A is a rare allele. Overall, our results are in accordance with the results of previous studies that 802T is the most common UGT2B7 nonsynonymous SNP in various populations [18][19][20][21][22].…”

Section: Resultssupporting

confidence: 83%

“…Our data regarding 802C>T frequency in Caucasian-Americans are concordant with previous findings [21,22]. However, the frequency was higher (41%) in our Asian-Americans compared with Japanese (24.4-29.3%) [18][19][20][21] and another Asian population from North America (26.6%) [22], suggesting ethnic and spatial differences, respectively. The allele 211T was observed only in two North American ethnic groups, 9% in Asian-American [n=13/83 (all heterozygous), n=1/83 (homozygous)] and 2% in Hispanic-American (n=4/87, heterozygous).…”

Section: Resultssupporting

confidence: 80%

“…The frequency of 211G>T in Asian-Americans was significantly higher (P=0.05, Fisher'sexact test) than the frequency in Hispanic-Americans. However, the frequency was lower (9%) in our AsianAmericans compared with Japanese populations (14.8-18.5%) [18][19][20], suggesting ethnic differences. Finally, we did not observe the variant allele 1192A in any study sample, suggesting that 1192A is a rare allele.…”

Section: Resultsmentioning

confidence: 53%

“…These are: 211G>T (A71S, exon-1), 802C>T (H268Y, exon-2), and 1192G>A (D398N, exon-5) (http://galien.pha.ulaval.ca/labocg/alleles/UGT2B/UGT2B7.htm). The reported frequencies of these polymorphisms are: 211G>T (14.8-18.5%, Japanese) [18][19][20], 802C>T (24.4-29.3%, Japanese; 48.9-53.7%, Caucasians) [18][19][20][21][22], and 1192G>A (<1%, Japanese) [19].…”

Section: Introductionmentioning

confidence: 99%

“…Recently, pharmaco-vigilance of artemisinin-based combination therapy in Africa has been suggested in order to assess the safety of these drugs when used widely [23]. Unfortunately, only limited information is available regarding UGT1A9 and UGT2B7 pharmacogenetic variations in various populations; the information pertains mainly to Caucasian and Japanese populations [14,15,[18][19][20][21][22]. Here, for the first time, we present a comprehensive account of UGT1A9 and UGT2B7 nonsynonymous SNPs in populations from two different malaria-endemic regions, West Africa (Ghana, Guinea, Ivory Coast, Sierra Leone, and Senegal) and PNG, and in four major North American ethnic groups (Caucasian, African, Asian, and Hispanic).…”

Section: Introductionmentioning

confidence: 99%

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Prevalence of UGT1A9 and UGT2B7 nonsynonymous single nucleotide polymorphisms in West African, Papua New Guinean, and North American populations

Mehlotra

Bockarie

Zimmerman

2006

Eur J Clin Pharmacol

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Objective-UDP-glucuronosyltransferases (UGTs) UGT1A9 and UGT2B7 are involved in the metabolism of antimalarial dihydroartemisinin and antiretroviral zidovudine. Our aim was to analyze the prevalence of UGT1A9 (chromosome 2) and UGT2B7 (chromosome 4) nonsynonymous single nucleotide polymorphisms (SNPs) in West African (WA), Papua New Guinean (PNG), and North American (NA) populations.Methods-Using a post-PCR ligation detection reaction-fluorescent microsphere assay, frequencies of UGT1A9 (8G>A, 98T>C, 766G>A) and UGT2B7 (211G>T, 802C>T, 1192G>A) SNPs were determined in WA (n=133, 5 countries), PNG (n=153), and NA (n=350, 4 ethnic groups) individuals.Results-The UGT1A9 variant alleles were not common in the study populations. None of the SNPs were present in WA and PNG. Among NA, all 3 SNPs were present (1% each) in AsianAmericans, while 98T>C was present only in Caucasian-Americans (1%) and Hispanic-Americans (1%). Regarding UGT2B7 SNPs, the prevalence of 802C>T was 21% in WA, 28% in PNG, and 28-; 52% in NA. The SNP 211G>T was present only in Asian-Americans (9%) and Hispanic-Americans (2%), while 1192G>A was not present in any of the subjects. No significant linkage was observed at UGT1A9, UGT2B7, and between both the loci in any of the study populations.Conclusions-Taken together, the UGT1A9-UGT2B7 polymorphism profile in WA and PNG populations is similar to African-Americans, but different from Asian-Americans. It is important to determine if these differences, along with previously reported differences in cytochrome P450 2B6 allele frequencies, are associated with altered metabolism/ effectiveness of artemisinin drugs.

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Section: Resultssupporting

confidence: 83%

Section: Resultssupporting

confidence: 80%

Section: Resultsmentioning

confidence: 53%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Prevalence of UGT1A9 and UGT2B7 nonsynonymous single nucleotide polymorphisms in West African, Papua New Guinean, and North American populations

Mehlotra

Bockarie

Zimmerman

2006

Eur J Clin Pharmacol

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Pharmacogenetic Variants and Plasma Concentrations of Antiseizure Drugs

Milosavljević,

Manojlović,

Matković

et al. 2024

JAMA Netw Open

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ImportancePrecise estimation of a patient’s drug metabolism capacity is important for antiseizure dose personalization.ObjectiveTo quantify the differences in plasma concentrations for antiseizure drugs associated with variants of genes encoding drug metabolizing enzymes.Data SourcesPubMed, Clinicaltrialsregister.eu, ClinicalTrials.gov, International Clinical Trials Registry Platform, and CENTRAL databases were screened for studies from January 1, 1990, to September 30, 2023, without language restrictions.Study SelectionTwo reviewers performed independent study screening and assessed the following inclusion criteria: appropriate genotyping was performed, genotype-based categorization into subgroups was possible, and each subgroup contained at least 3 participants.Data Extraction and SynthesisThe Meta-analysis of Observational Studies in Epidemiology (MOOSE) guidelines were followed for data extraction and subsequent quality, validity, and risk-of-bias assessments. The results from the included studies were pooled with random-effect meta-analysis.Main Outcomes and MeasuresPlasma concentrations of antiseizure drugs were quantified with the dose-normalized area under the concentration-time curve, the dose-normalized steady state concentration, or the concentrations after a single dose at standardized dose and sampling time. The ratio of the means was calculated by dividing the mean drug plasma concentrations of carriers and noncarriers of the pharmacogenetic variant.ResultsData from 98 studies involving 12 543 adult participants treated with phenytoin, valproate, lamotrigine, or carbamazepine were analyzed. Studies were mainly conducted within East Asian (69 studies) or White or European (15 studies) cohorts. Significant increases of plasma concentrations compared with the reference subgroup were observed for phenytoin, by 46% (95% CI, 33%-61%) in CYP2C9 intermediate metabolizers, 20% (95% CI, 17%-30%) in CYP2C19 intermediate metabolizers, and 39% (95% CI, 24%-56%) in CYP2C19 poor metabolizers; for valproate, by 12% (95% CI, 4%-20%) in CYP2C9 intermediate metabolizers, 12% (95% CI, 2%-24%) in CYP2C19 intermediate metabolizers, and 20% (95% CI, 2%-41%) in CYP2C19 poor metabolizers; and for carbamazepine, by 12% (95% CI, 3%-22%) in CYP3A5 poor metabolizers.Conclusions and RelevanceThis systematic review and meta-analysis found that CYP2C9 and CYP2C19 genotypes encoding low enzymatic capacity were associated with a clinically relevant increase in phenytoin plasma concentrations, several pharmacogenetic variants were associated with statistically significant but only marginally clinically relevant changes in valproate and carbamazepine plasma concentrations, and numerous pharmacogenetic variants were not associated with statistically significant differences in plasma concentrations of antiseizure drugs.

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Association of μ-opioid receptor gene (OPRM1) haplotypes with postoperative nausea and vomiting

et al. 2014

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Genetic variants, such as single-nucleotide polymorphisms (SNPs), of the μ-opioid receptor gene (OPRM1) might be associated with individual differences in opioid sensitivity, as well as with the incidence and severity of postoperative nausea and vomiting (PONV). The goal of the present study was to determine, in a cohort of Japanese surgical patients, genotypes and haplotypes of several SNPs in the OPRM1 gene, and their association with PONV during the early (first 24 h) postoperative period. We examined the incidence and severity of PONV, during the first 24 h after surgery, in 85 Japanese patients receiving intravenous patient-controlled analgesia fentanyl analgesia for postoperative pain control. Eight tag SNPs of the OPRM1 gene (rs1799971, A/G; rs510769, G/A; rs4870266, G/A; rs3798683, G/A; rs1323042, A/C; rs609623, C/T; rs9397685, A/G; and rs644261, C/G) were selected based on their minor allele frequency (>10%) and linkage disequilibrium strength (<80%), and genotyped for haplotype analysis and determination of associations with PONV. Only one out of eight investigated SNPs, rs9397685, in the intronic part of the OPRM1 gene was associated with differences in the occurrence and severity of PONV. We also found four common haplotypes with a frequency of >10% in the investigated patients, including GGGAACAC (33%), AGGGACAC (19%), GGGAACGC (12%), and AGAGACAC (10%). The severity of PONV in carriers of the GGGAACGC haplotype was significantly lower than in the carriers of the other haplotypes (P < 0.05). One intronic SNP, rs9397685, and haplotypes constructed from eight SNPs within the OPRM1 gene locus might be involved in the severity of PONV associated with general anesthesia and opioid administration. This novel finding, if validated and verified in larger and additional ethnic cohorts, might contribute to better knowledge of the contribution of the OPRM1 gene to PONV.

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Haplotype analysis of UDP-glucuronocyltransferase 2B7 gene (UGT2B7) polymorphisms in healthy Japanese subjects

Cited by 36 publications

References 19 publications

Prevalence of UGT1A9 and UGT2B7 nonsynonymous single nucleotide polymorphisms in West African, Papua New Guinean, and North American populations

Prevalence of UGT1A9 and UGT2B7 nonsynonymous single nucleotide polymorphisms in West African, Papua New Guinean, and North American populations

Pharmacogenetic Variants and Plasma Concentrations of Antiseizure Drugs

Association of μ-opioid receptor gene (OPRM1) haplotypes with postoperative nausea and vomiting

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