Concordance between the deduced acetylation status generated by high-speed: real-time PCR based NAT2 genotyping of seven single nucleotide polymorphisms and human NAT2 phenotypes determined by a caffeine assay.

2.50
Hdl Handle:
http://hdl.handle.net/10146/28003
Title:
Concordance between the deduced acetylation status generated by high-speed: real-time PCR based NAT2 genotyping of seven single nucleotide polymorphisms and human NAT2 phenotypes determined by a caffeine assay.
Authors:
Rihs, Hans-Peter; John, Andrea; Scherenberg, Michael; Seidel, Albrecht; Bruning, Thomas
Abstract:
BACKGROUND: The utility of typing single nucleotide polymorphisms (SNPs) for the determination of the N-acetyltransferase 2 (NAT2) acetylation status is a matter of debate. AIMS OF THE STUDY: Evaluation of the concordance between deduced genotype results of seven human NAT2 SNPs generated by Real-time PCR analysis and human NAT2 phenotypes. METHODS: NAT2 phenotypes of 38 Caucasian workers were determined using a suitable caffeine test method. Genomic DNA aliquots were used for the determination of seven human NAT2-specific SNPs (G191A, C282T, T341C, C481T, G590A, A803G, G857A). RESULTS AND CONCLUSIONS: Phenotypic results based on the molar ratio of 5-acetylamino-6-formylamino-3-methyluracil (AFMU)/(AFMU+1-methlyuric acid (1U)+1-methylxanthine (1X)) calculated from excreted caffeine metabolite levels in urine samples with 0.3 as a cut-off point between slow (<0.3) and rapid acetylators (>or=0.3). Twenty-seven samples belonged to the slow (mean 0.13; range: 0.03-0.25), 11 to the rapid (mean: 0.41; range: 0.34-0.48) acetylators. LightCycler analyses revealed 11 different NAT2 variant combinations, whereby *5B/*5B and *5B/*6A or *5A/*6C (each 21%), were the most frequent. The deduced acetylation status of the seven NAT2 SNPs matched perfectly with the 38 results determined by phenotyping. This study showed a 100% concordance between NAT2 phenotypes and the deduced NAT2 genotypes and the suitability of the high-speed NAT2-specific LightCycler analysis in a Caucasian population.
Citation:
Clin. Chim. Acta 2007, 376 (1-2):240-243
Journal:
Clinica chimica acta; international journal of clinical chemistry
Issue Date:
Feb-2007
URI:
http://hdl.handle.net/10146/28003
DOI:
10.1016/j.cca.2006.08.010
PubMed ID:
17011540
Additional Links:
http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6T57-4KN3SBG-2&_user=1843694&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000055040&_version=1&_urlVersion=0&_userid=1843694&md5=8da8f1ca78a8be7eb04c6005b372fd6e
Type:
Article
Language:
en
ISSN:
0009-8981
Sponsors:
This work was supported by the Hauptverband der Berufsgenossenschaften (BGFA project Mol-D) and the Berufsgenossenschaft Bau, Oberhausen, Germany. A.J. and A.S. are partners of ECNIS (European Cancer Risk, Nutrition and Individual Susceptibility), a network of excellence (NoE) operating with the European Union 6th Framework Program, Priority 5: “Food Quality and Safety" (Contract No. 513943).
Appears in Collections:
Articles

Full metadata record

DC FieldValue Language
dc.contributor.authorRihs, Hans-Peter-
dc.contributor.authorJohn, Andrea-
dc.contributor.authorScherenberg, Michael-
dc.contributor.authorSeidel, Albrecht-
dc.contributor.authorBruning, Thomas-
dc.date.accessioned2008-05-26T10:04:38Z-
dc.date.available2008-05-26T10:04:38Z-
dc.date.issued2007-02-
dc.identifier.citationClin. Chim. Acta 2007, 376 (1-2):240-243en
dc.identifier.issn0009-8981-
dc.identifier.pmid17011540-
dc.identifier.doi10.1016/j.cca.2006.08.010-
dc.identifier.urihttp://hdl.handle.net/10146/28003-
dc.description.abstractBACKGROUND: The utility of typing single nucleotide polymorphisms (SNPs) for the determination of the N-acetyltransferase 2 (NAT2) acetylation status is a matter of debate. AIMS OF THE STUDY: Evaluation of the concordance between deduced genotype results of seven human NAT2 SNPs generated by Real-time PCR analysis and human NAT2 phenotypes. METHODS: NAT2 phenotypes of 38 Caucasian workers were determined using a suitable caffeine test method. Genomic DNA aliquots were used for the determination of seven human NAT2-specific SNPs (G191A, C282T, T341C, C481T, G590A, A803G, G857A). RESULTS AND CONCLUSIONS: Phenotypic results based on the molar ratio of 5-acetylamino-6-formylamino-3-methyluracil (AFMU)/(AFMU+1-methlyuric acid (1U)+1-methylxanthine (1X)) calculated from excreted caffeine metabolite levels in urine samples with 0.3 as a cut-off point between slow (<0.3) and rapid acetylators (>or=0.3). Twenty-seven samples belonged to the slow (mean 0.13; range: 0.03-0.25), 11 to the rapid (mean: 0.41; range: 0.34-0.48) acetylators. LightCycler analyses revealed 11 different NAT2 variant combinations, whereby *5B/*5B and *5B/*6A or *5A/*6C (each 21%), were the most frequent. The deduced acetylation status of the seven NAT2 SNPs matched perfectly with the 38 results determined by phenotyping. This study showed a 100% concordance between NAT2 phenotypes and the deduced NAT2 genotypes and the suitability of the high-speed NAT2-specific LightCycler analysis in a Caucasian population.en
dc.description.sponsorshipThis work was supported by the Hauptverband der Berufsgenossenschaften (BGFA project Mol-D) and the Berufsgenossenschaft Bau, Oberhausen, Germany. A.J. and A.S. are partners of ECNIS (European Cancer Risk, Nutrition and Individual Susceptibility), a network of excellence (NoE) operating with the European Union 6th Framework Program, Priority 5: “Food Quality and Safety" (Contract No. 513943).en
dc.language.isoenen
dc.relation.urlhttp://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6T57-4KN3SBG-2&_user=1843694&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000055040&_version=1&_urlVersion=0&_userid=1843694&md5=8da8f1ca78a8be7eb04c6005b372fd6een
dc.subjectAcetylation statusen
dc.subjectNAT2 genotypingen
dc.subjectNAT2 phenotypingen
dc.subjectLightCycleren
dc.subject.meshAcetylation-
dc.subject.meshAdult-
dc.subject.meshArylamine N-Acetyltransferase-
dc.subject.meshBiotransformation-
dc.subject.meshCaffeine-
dc.subject.meshEuropean Continental Ancestry Group-
dc.subject.meshGenotype-
dc.subject.meshHumans-
dc.subject.meshMale-
dc.subject.meshMiddle Aged-
dc.subject.meshPhenotype-
dc.subject.meshPolymerase Chain Reaction-
dc.subject.meshPolymorphism, Single Nucleotide-
dc.subject.meshUracil-
dc.subject.meshUric Acid-
dc.subject.meshXanthines-
dc.titleConcordance between the deduced acetylation status generated by high-speed: real-time PCR based NAT2 genotyping of seven single nucleotide polymorphisms and human NAT2 phenotypes determined by a caffeine assay.en
dc.typeArticleen
dc.identifier.journalClinica chimica acta; international journal of clinical chemistryen

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