Document Detail

Clarifying haplotype ambiguity of NAT2 in multi-national cohorts .
MedLine Citation:
PMID:  23277078     Owner:  NLM     Status:  In-Data-Review    
N-Acetyltransferase 2 (NAT2) is the key enzyme in aromatic amine metabolism. NAT2 genotyping requires a subsequent determination of the haplotype pairs (formerly: alleles) to derive the acetylation status. The chromosomal phase of the single nucleotide polymorphisms (SNPs) is unclear for about 2/3 of the genotypes. We investigated NAT2 genotypes of 1,234 bladder cancer cases and 2,207 controls from Germany, Hungary, Pakistan and Venezuela plus 696 further German cancer cases. We reconstructed NAT2 haplotypes using PHASE v2.1.1. We analysed if the variability of the NAT2haplotypes affected the haplotype reconstruction. Furthermore, we compared population haplotype frequencies in three Caucasian control cohorts (German, Hungarian, Spanish), in Pakistanis and Venezuelans and the impact on bladder cancer. We conclude that a common haplotype reconstruction is feasible, enhances precision and reliability. Hungarian controls showed the largest intra-ethnic variability whereas the Pakistanis showed a haplotype distribution typical for Caucasians. The main differences could be observed for the slow haplotypes *5B, *6A and *7B. The association of slowNAT2 genotypes with bladder cancer risk was most prominent in the Venezuelan study group.
Silvia Selinski; Meinolf Blaszkewicz; Jose A G Agundez; Carmen Martinez; Elena Garcia-Martin; Jan G Hengstler; Klaus Golka
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Publication Detail:
Type:  Journal Article     Date:  2013-01-01
Journal Detail:
Title:  Frontiers in bioscience (Scholar edition)     Volume:  5     ISSN:  1945-0524     ISO Abbreviation:  Front Biosci (Schol Ed)     Publication Date:  2013  
Date Detail:
Created Date:  2013-01-01     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101485241     Medline TA:  Front Biosci (Schol Ed)     Country:  United States    
Other Details:
Languages:  eng     Pagination:  672-84     Citation Subset:  IM    
Ardeystr. 67, 44129 Dortmund, Germany.
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