0000000001003758

AUTHOR

Rainer Ebbinghaus

showing 1 related works from this author

Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 g…

2011

Genotyping N-acetyltransferase 2 (NAT2) is of high relevance for individualized dosing of antituberculosis drugs and bladder cancer epidemiology. In this study we compared a recently published tagging single nucleotide polymorphism (SNP) (rs1495741) to the conventional 7-SNP genotype (G191A, C282T, T341C, C481T, G590A, A803G and G857A haplotype pairs) and systematically analysed if novel SNP combinations outperform the latter. For this purpose, we studied 3177 individuals by PCR and phenotyped 344 individuals by the caffeine test. Although the tagSNP and the 7-SNP genotype showed a high degree of correlation (R=0.933, P0.0001) the 7-SNP genotype nevertheless outperformed the tagging SNP wit…

MaleLinkage disequilibriumGenotypeGenotyping TechniquesArylamine N-AcetyltransferaseMedizinSingle-nucleotide polymorphismComputational biologyBiologyPolymorphism Single NucleotideSensitivity and SpecificityLinkage DisequilibriumCaffeineGenotypeEthnicityGeneticsmedicineHumansSNPGeneral Pharmacology Toxicology and PharmaceuticsMolecular BiologyGenotyping TechniquesGenotypingGenetics (clinical)Bladder cancerHaplotypeAcetylationmedicine.diseasePhenotypeHaplotypesCase-Control StudiesMolecular MedicineFemale
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