SULT1A1 copy number variation: ethnic distribution analysis in an Indian population

Abstract

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.

Influence of SULT1A1*2 Polymorphism on Plasma Efavirenz Concentration in Thai HIV-1 Patients

“…SULT1A1 copy number (CN) ranged from 1 to 6 copies and the frequency distribution of SULT1A1 CN 1, 2, 3, 4, 5, and 6 was 3.4%, 48.3%, 29.5%, 11.4%, 4.7%, and 2.7%, respectively. The observed SULT1A1 gene deletion (1 copy) and multiallelic duplications were similar to previous reports in Thai, 31 Caucasian-American, 32 European-Caucasian, 33,34 Indians, 35 Japanese, 36 and Chinese. 37 For UGT2B17, three distinct clusters representing zero (56.4%), one (34.2%) and two gene copies (9.4%) were observed.…”