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首页> 外文期刊>Pharmacogenetics and genomics >N-acetyltransferase 2 enzyme genotype-phenotype discordances in both HIV-negative and HIV-positive Nigerians
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N-acetyltransferase 2 enzyme genotype-phenotype discordances in both HIV-negative and HIV-positive Nigerians

机译：N-乙酰转移酶2酶基因型 - 在HIV阴性和艾滋病毒阳性尼日利亚人中的表型不等味

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Background The N-acetyltransferase 2 (NAT2) enzyme has been understudied in Nigerians including genotype-phenotype association studies. Objective The aim of this study was NAT2 haplotype identification and genotype-phenotype investigations in HIV-positive and HIV-negative Nigerians. Patients and methods Phenotypes included self-reported sulphonamide hypersensitivity survey, experimental and computational NAT2 phenotyping. The NAT2 gene was amplified by PCR. Gene sequencing used ABI 3730 and Haploview 4.2 for haplotype reconstruction. Genotype-phenotype analyses used the chi(2) P-value and odds ratio with a 95% confidence interval. Results Self-reported sulphonamide hypersensitivity showed a prevalence of 3.1 and 12.4% in HIV-positive and HIV-negative Nigerians, respectively. NAT2 genetic variants 191G>A, 282C>T, 341T>C, 481C>T, 590G>A, 803A>G and 857G>A were not significantly different between both groups (odds ratio=0.87; 95% confidence interval: 0.54-1.38, P=0.55). Nine haplotypes: NAT2*4, NAT2*12A, NAT2*13A, NAT2*5B, NAT2*6A, NAT2*7B, NAT2*5C, NAT2*14B and NAT2*14A had frequencies more than 1%, whereas NAT2*12B had 1.1% in the HIV-positive and 0.4% in the HIV-negative group. Overall, slow acetylator haplotypes made up 68%. The NAT2*12 signature single-nucleotide polymorphism was in high linkage disequilibrium with signature single-nucleotide polymorphism for NAT2*13 (D '=0.97, r(2)=0.61) and NAT2*5 (D '=0.98, r(2)=0.64). Genotype-phenotype association analysis showed haplotypes NAT2*13A, NAT2*5C, NAT2*7B and NAT2*14A to be associated strongly with the slow metabolic phenotype (P=0.002, 0.029, 0.032 and 0.050, respectively). Computational phenotypes were similar, with 30.9, 66 and 3.1% for slow, intermediate and rapid acetylators, respectively, among HIV-positive Nigerians and 31.2, 66.3 and 2.5% among the HIV-negative group. Overall, slow phenotypes made up 31%. Conclusion NAT2 haplotype frequencies are similar in Nigerians, irrespective of HIV status, but genotype-phenotype discordances exist.
机译：背景技术在尼日利亚中已经将N-乙酰转移酶2（NAT2）酶包括基因型 - 表型关联研究。目的本研究的目的是NAT2单倍型鉴定和基因型 - 在艾滋病毒阳性尼日利亚中的基因型表型研究。患者和方法表型包括自我报告的磺酰胺超敏反应，实验和计算NAT2表型。通过PCR扩增NAT2基因。基因测序使用ABI 3730和Haploview 4.2进行单倍型重建。基因型 - 表型分析使用95％置信区间的CHI（2）p值和差距。结果分别自我报告的磺胺酰胺超敏反期显示艾滋病毒阳性和艾滋病毒阴性尼日利亚患者的患病率为3.1和12.4％。 NAT2遗传变体191g> A，282℃> T，341t> C，481C> T，590g> A，803a> G和857g> A，两组之间没有显着差异（差距= 0.87; 95％置信区间：0.54- 1.38，p = 0.55）。九个单倍型：NAT2 * 4，NAT2 * 12A，NAT2 * 13A，NAT2 * 5B，NAT2 * 6A，NAT2 * 7B，NAT2 * 5C，NAT2 * 14B和NAT2 * 14A具有超过1％的频率，而NAT2 * 12B具有频率艾滋病毒阳性1.1％和HIV阴性组中的0.4％。总体而言，慢乙酰乙酰乙酰吡喃曲肽均占68％。 NAT2 * 12标志性单核苷酸多态性与NAT2 * 13（d'= 0.97，R（2）= 0.61）和NAT2 * 5（d'= 0.98，R（2 ）= 0.64）。基因型 - 表型关联分析显示单倍型NAT2 * 13A，NAT2 * 5C，NAT2 * 7B和NAT2 * 14A，与缓慢代谢表型强烈相关联（P = 0.002,0.029,0.032和0.052和0.050）。对于艾滋病毒阳性尼日利亚症，31.2,66.3和2.5％，分别为30.9,66和3.1％，分别为30.9,66和3.1％。总体而言，慢表型占31％。结论NAT2单倍型频率在尼日利亚中相似，无论HIV状态如何，都存在基因型 - 表型可乐。

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