Multi-ethnic SULT1A1 cOpy Number Profiling with Multiplex Ligation-Dependent Probe Amplification

Aim: To develop a SULT1A1 multiplex ligation-dependent probe amplification assay and to investigate multi-ethnic copy number variant frequencies. Methods: A novel multiplex ligation-dependent probe amplification assay was developed and tested on 472 African–American, Asian, Caucasian, Hispanic and Ashkenazi Jewish individuals. Results: The frequencies of atypical total copy number (i.e., greater or less than two) were 38.7% for Hispanics, 38.9% for Ashkenazi Jewish, 43.2% for Caucasians, 53.6% for Asians and 64.1% for African–Americans. Heterozygous SULT1A1 deletion carriers (slow sulfators) were most common among Caucasians (8.4%), whereas African–Americans had the highest frequencies of three or more copies (rapid sulfators; 60.9%). Conclusion: Different ethnic and racial populations have varying degrees of SULT1A1-mediated sulfation activity, which warrants further research and that may have utility for drug response prediction among SULT1A1-metabolized medications.