Correlation between N-acetyltransferase activity and NAT2 genotype in Chinese males.
Correlation between N-acetyltransferase activity and NAT2 genotype in Chinese males.
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中国男性N-乙酰转移酶活性与NAT2基因型的相关性。
DOI：
10.1097/00008571-199310000-00004
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发表时间：
1993
期刊：
影响因子：
--
通讯作者：
U. Meyer
中科院分区：
文献类型：
--
作者：
N. Rothman;R. Hayes;W. Bi;N. Caporaso;F. Broly;R. Woosley;S. Yin;P. Feng;X. You;U. Meyer
来自膀胱癌职业病例对照研究的 84 名健康中国男性对照受试者通过氨苯砜评估了肝脏 N-乙酰转移酶活性，并通过聚合酶链式反应对外周白细胞 DNA 进行等位基因特异性扩增来评估 NAT2 基因型。乙酰化活性总体变异的 59% 是由基因型解释的 (p < 0.0001)。乙酰化的其余变异与研究人群或任何基因型亚组内的氨苯砜 N-羟基化活性、年龄、当前吸烟状况或体重无关。尽管纯合突变体组中的乙酰化活性与其他基因型类别不重叠，但杂合突变体和野生型组之间的乙酰化存在适度重叠，并且它们内部的乙酰化存在显着差异。将具有相同 NAT2 基因型的所有受试者视为表型相似，将所有具有不同 NAT2 基因型的受试者视为表型不同，可能会导致流行病学调查中代谢危险因素的错误分类。因此，在可能的情况下，收集乙酰化表型和 NAT2 基因型数据似乎是谨慎的，因为这两种信息来源的优点和局限性是互补的，并有助于评估彼此的准确性。
Eighty-four healthy Chinese male control subjects derived from an occupation-based case-control study of bladder cancer were evaluated for hepatic N-acetyltransferase activity by dapsone and for NAT2 genotype using allele-specific amplification of peripheral leukocyte DNA by the polymerase chain reaction. Fifty-nine percent of the overall variation in acetylation activity was explained by genotype (p < 0.0001). The remaining variation in acetylation was not associated with dapsone N-hydroxylation activity, age, current smoking status, or weight in the study population, or within any genotype subgroup. Although acetylation activity in the homozygous mutant group did not overlap with the other genotype categories, there was moderate overlap in acetylation between the heterozygous mutant and wildtype groups, and substantial variation in acetylation within them. Considering all subjects with the identical NAT2 genotype as phenotypically similar and all subjects with differing NAT2 genotypes as phenotypically distinct may result in misclassification of metabolic risk factors in epidemiological investigations. As such, it would seem prudent, where possible, to collect both acetylation phenotype and NAT2 genotype data, since the advantages and limitations of these two sources of information complement, and serve to assess the accuracy of each other.