Almal Suhani, Padh Harish
a Department of Cell and Molecular Biology , B. V. Patel Pharmaceutical Education and Research Development (PERD) Centre , Ahmedabad , Gujarat , India.
b Sardar Patel University , Vallabh Vidyanagar , Gujarat , India.
Ann Hum Biol. 2017 Nov;44(7):663-666. doi: 10.1080/03014460.2017.1376852. Epub 2017 Sep 24.
Cytosolic sulfotransferases (SULTs) are phase II detoxification enzymes involved in metabolism of numerous xenobiotics, drugs and endogenous compounds. Interindividual variation in sulfonation capacity is important for determining an individual's response to xenobiotics. SNPs in SULTs, mainly SULT1A1 have been associated with cancer risk and also with response to therapeutic agents. Copy number variation (CNVs) in SULT1A1 is found to be correlated with altered enzyme activity. This short report primarily focuses on CNV in SULT1A1 and its distribution among different ethnic populations around the globe. Frequency distribution of SULT1A1 copy number (CN) in 157 healthy Indian individuals was assessed using florescent-based quantitative PCR assay. A range of 1 to >4 copies, with a frequency of SULT1A1 CN =2 (64.9%) the highest, was observed in our (Indian) population. Upon comparative analysis of frequency distribution of SULT1A1 CN among diverse population groups, a statistically significant difference was observed between Indians (our data) and African-American (AA) (p = 0.0001) and South African (Tswana) (p < 0.0001) populations. Distribution of CNV in the Indian population was found to be similar to that in European-derived populations of American and Japanese. CNV of SULT1A1 varies significantly among world populations and may be one of the determinants of health and diseases.
胞质磺基转移酶（SULTs）是参与多种外源性物质、药物和内源性化合物代谢的Ⅱ相解毒酶。磺化能力的个体差异对于确定个体对外源性物质的反应很重要。SULTs中的单核苷酸多态性（SNPs），主要是SULT1A1，已与癌症风险以及对治疗药物的反应相关联。发现SULT1A1中的拷贝数变异（CNVs）与酶活性改变相关。本简短报告主要关注SULT1A1中的CNV及其在全球不同种族人群中的分布。使用基于荧光的定量PCR分析评估了157名健康印度个体中SULT1A1拷贝数（CN）的频率分布。在我们（印度）人群中观察到拷贝数范围为1至>4，其中SULT1A1 CN =2的频率最高（64.9%）。在对不同人群组中SULT1A1 CN的频率分布进行比较分析后，发现印度人（我们的数据）与非裔美国人（AA）（p = 0.0001）和南非（茨瓦纳人）（p < 0.0001）人群之间存在统计学上的显著差异。发现印度人群中CNV的分布与美国和日本的欧洲裔人群相似。SULT1A1的CNV在世界人群中差异显著，可能是健康和疾病的决定因素之一。
