The differential effect of NAT2 variant alleles permits refinement in phenotype inference and identifies a very slow acetylation genotype.

Indirect evidences suggest that acetylation phenotype categories are heterogeneous and that subcategories, related to specific NAT2 variant alleles might exist. We analyzed the in vivo acetylation phenotype and genotype in 504 north-American subjects of Caucasian origin. The analyses of the SNPs rs1...

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Autores principales:	Jhon D Ruiz, Carmen Martínez, Kristin Anderson, Myron Gross, Nicholas P Lang, Elena García-Martín, José A G Agúndez
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/ec17d7d5fb914c7e8726e7cdbb14c69a
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spelling	oai:doaj.org-article:ec17d7d5fb914c7e8726e7cdbb14c69a2021-11-18T07:06:20ZThe differential effect of NAT2 variant alleles permits refinement in phenotype inference and identifies a very slow acetylation genotype.1932-620310.1371/journal.pone.0044629https://doaj.org/article/ec17d7d5fb914c7e8726e7cdbb14c69a2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22970273/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Indirect evidences suggest that acetylation phenotype categories are heterogeneous and that subcategories, related to specific NAT2 variant alleles might exist. We analyzed the in vivo acetylation phenotype and genotype in 504 north-American subjects of Caucasian origin. The analyses of the SNPs rs1801280 and rs1799930 allowed the discrimination of five categories with different acetylation status within the study population. These categories are related to the distinct effect of NAT2 alleles on the acetylation status in vivo and to the occurrence of a gene-dose effect. These five phenotype categories, from higher to lower acetylation capacity, correspond to the genotypes NAT24/4, NAT24/5 or 4/6, NAT25/5, NAT25/6 and NAT26/6 (p ≤ 0.001 for all comparisons). The NAT26/6 genotype correspond to a phenotype category of very-slow acetylators. The refinement in phenotype prediction may help to identify risks associated to phenotype subcategories, and warrants the re-analysis of previous studies that may have overlooked phenotype subcategory-specific risks.Jhon D RuizCarmen MartínezKristin AndersonMyron GrossNicholas P LangElena García-MartínJosé A G AgúndezPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 9, p e44629 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Jhon D Ruiz Carmen Martínez Kristin Anderson Myron Gross Nicholas P Lang Elena García-Martín José A G Agúndez The differential effect of NAT2 variant alleles permits refinement in phenotype inference and identifies a very slow acetylation genotype.
description	Indirect evidences suggest that acetylation phenotype categories are heterogeneous and that subcategories, related to specific NAT2 variant alleles might exist. We analyzed the in vivo acetylation phenotype and genotype in 504 north-American subjects of Caucasian origin. The analyses of the SNPs rs1801280 and rs1799930 allowed the discrimination of five categories with different acetylation status within the study population. These categories are related to the distinct effect of NAT2 alleles on the acetylation status in vivo and to the occurrence of a gene-dose effect. These five phenotype categories, from higher to lower acetylation capacity, correspond to the genotypes NAT24/4, NAT24/5 or 4/6, NAT25/5, NAT25/6 and NAT26/6 (p ≤ 0.001 for all comparisons). The NAT26/6 genotype correspond to a phenotype category of very-slow acetylators. The refinement in phenotype prediction may help to identify risks associated to phenotype subcategories, and warrants the re-analysis of previous studies that may have overlooked phenotype subcategory-specific risks.
format	article
author	Jhon D Ruiz Carmen Martínez Kristin Anderson Myron Gross Nicholas P Lang Elena García-Martín José A G Agúndez
author_facet	Jhon D Ruiz Carmen Martínez Kristin Anderson Myron Gross Nicholas P Lang Elena García-Martín José A G Agúndez
author_sort	Jhon D Ruiz
title	The differential effect of NAT2 variant alleles permits refinement in phenotype inference and identifies a very slow acetylation genotype.
title_short	The differential effect of NAT2 variant alleles permits refinement in phenotype inference and identifies a very slow acetylation genotype.
title_full	The differential effect of NAT2 variant alleles permits refinement in phenotype inference and identifies a very slow acetylation genotype.
title_fullStr	The differential effect of NAT2 variant alleles permits refinement in phenotype inference and identifies a very slow acetylation genotype.
title_full_unstemmed	The differential effect of NAT2 variant alleles permits refinement in phenotype inference and identifies a very slow acetylation genotype.
title_sort	differential effect of nat2 variant alleles permits refinement in phenotype inference and identifies a very slow acetylation genotype.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/ec17d7d5fb914c7e8726e7cdbb14c69a
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The differential effect of NAT2 variant alleles permits refinement in phenotype inference and identifies a very slow acetylation genotype.

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