Divisão de Farmacologia, Instituto Nacional de Câncer, Rio de Janeiro, Brazil.
Pharmacogenet Genomics. 2012 Apr;22(4):305-9. doi: 10.1097/FPC.0b013e3283519c7c.
A novel NAT2 tagSNP (rs1495741) and a 2-SNP genotype (rs1041983 and rs1801280) have been recently shown to accurately predict the NAT2 acetylator phenotypes in populations of exclusive or predominant European/White ancestry. We confirmed the accuracy of the tagSNP approach in White Brazilians, but not in Brown or Black Brazilians, sub-Saharan Mozambicans, and Guarani Amerindians. The combined rs1041983 and rs1801280 genotypes provided considerably better prediction of the NAT2 phenotype in Guarani, but no consistent improvement in Brown or Black Brazilians and Mozambicans. Best predictions of the NAT2 phenotype in Mozambicans using NAT2 SNP pairs were obtained with rs1801280 and rs1799930, but the accuracy of the estimates remained inadequate for clinical use or for investigations in this sub-Saharan group or in Brazilians with considerable African ancestry. In conclusion, the rs1495741 tagSNP cannot be applied to predict the NAT2 acetylation phenotype in Guarani and African-derived populations, whereas 2-SNP genotypes may accurately predict NAT2 phenotypes in Guarani, but not in Africans.
一种新的 NAT2 标签 SNP(rs1495741)和一种 2-SNP 基因型(rs1041983 和 rs1801280)最近被证明能够准确预测具有欧洲/白人血统的人群中的 NAT2 乙酰化表型。我们在白种巴西人中证实了标签 SNP 方法的准确性，但在棕色或黑色巴西人、撒哈拉以南的莫桑比克人和瓜拉尼印第安人中则没有。rs1041983 和 rs1801280 联合基因型为瓜拉尼人提供了对 NAT2 表型更好的预测，但对棕色或黑色巴西人和莫桑比克人没有一致的改善。使用 NAT2 SNP 对莫桑比克人的 NAT2 表型进行最佳预测，得到 rs1801280 和 rs1799930，但这些估计的准确性仍不足以用于临床或在撒哈拉以南人群或具有大量非洲血统的巴西人中进行研究。总之，rs1495741 标签 SNP 不能用于预测瓜拉尼人和非洲裔人群中的 NAT2 乙酰化表型，而 2-SNP 基因型可能准确预测瓜拉尼人的 NAT2 表型，但不能预测非洲人。
