PHARMACOGENETICS OF N-METHYLATION - HERITABILITY OF HUMAN-ERYTHROCYTE HISTAMINE N-METHYLTRANSFERASE ACTIVITY
PHARMACOGENETICS OF N-METHYLATION - HERITABILITY OF HUMAN-ERYTHROCYTE HISTAMINE N-METHYLTRANSFERASE ACTIVITY
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DOI：
10.1038/clpt.1988.30
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发表时间：
1988-03-01
影响因子：
6.7
通讯作者：
WEINSHILBOUM, RM
中科院分区：
文献类型：
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作者：
SCOTT, MC;VANLOON, JA;WEINSHILBOUM, RM
组胺N-甲基转移酶(HNMT)催化组胺N-tau甲基化。HNMT存在于许多人体组织，包括红细胞(RBC)。我们的研究评估了遗传在调节人类RBC HNMT活性的个体差异中的可能作用。对51个核心家族的241名成员的红细胞裂解物中的HNMT活性进行了测定。在校正了年龄的性别效应后，RBC HNMT活性的频率分布呈单峰分布，在平均值的2个标准差内活动变化3倍。来自45对配偶的红细胞中HNMT活性的相关性仅为0.070，这表明共同的环境并不会导致遗传上没有血缘关系的个体的相似活动。还计算了成对的遗传相关个体的相关系数。除了母亲和长子的相关性外，所有这些相关性都很显著。大多数相关性与遗传力为1.0的性状的预测结果没有显著差异(100%)。我们的结果表明，人RBC HNMT活性具有显著的家族聚集性，提示遗传可能在调节人RBC中这种N-甲基转移酶活性的变异中起重要作用。
Histamine N-methyltransferase (HNMT) catalyzes the N.tau.-methylation of histamine. HNMT is present in many human tissues, including the red blood cell (RBC). Our study evaluated the possible role of inheritance in the regulation of individual variations in human RBC HNMT activity. HNMT activity was measured in RBC lysates from 241 members of 51 nuclear families. After correction for the gender-specific effects of age, the frequency distribution of RBC HNMT activities was unimodal, and activities varied threefold within 2 SDs of the mean. The correlation of HNMT activities in RBCs from 45 pairs of spouses was only 0.070, indicating that shared environment did not result in similar activities among genetically unrelated individuals. Correlation coefficients were also calculated for pairs of genetically related individuals. All of these correlations were significant except the mother-oldest son correlation. The majority of the correlations did not differ significantly from those predicted for a trait with a heritability of 1.0 (100%). Our results demonstrate a significant familial aggregation of human RBC HNMT activity and suggest that inheritance may play an important role in the regulation of variation in the activity of this N-methyltransferase enzyme in the human RBC.