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Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification.

Raymon Vijzelaar1, Mariana R Botton2,3, Lisette Stolk1

  • 1MRC-Holland, Willem Schoutenstraat 1, Amsterdam, The Netherlands.

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|May 24, 2018
PubMed
Summary

Sulfotransferase 1A1 (SULT1A1) copy number variants differ significantly across ethnic groups. This variation impacts sulfation activity and may predict drug responses in diverse populations.

Keywords:
SULT1A1copy number variationmultiplex ligation-dependent probe amplification (MLPA)pharmacogeneticspharmacogenomics

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Area of Science:

  • Pharmacogenomics
  • Molecular Biology

Background:

  • Sulfotransferase 1A1 (SULT1A1) plays a crucial role in metabolizing various compounds, including drugs.
  • Understanding SULT1A1 genetic variations is essential for personalized medicine.

Purpose of the Study:

  • To develop a multiplex ligation-dependent probe amplification (MLPA) assay for SULT1A1.
  • To investigate the frequencies of SULT1A1 copy number variants (CNVs) across diverse ethnic populations.

Main Methods:

  • A novel SULT1A1 MLPA assay was developed.
  • The assay was validated on 472 individuals from African-American, Asian, Caucasian, Hispanic, and Ashkenazi Jewish populations.

Main Results:

  • Significant variations in SULT1A1 CNVs were observed across ethnic groups.
  • African-Americans exhibited the highest frequency of atypical copy numbers (64.1%) and three or more copies (60.9%).
  • Caucasians had the highest frequency of heterozygous SULT1A1 deletion carriers (8.4%).

Conclusions:

  • Ethnic and racial populations display varying SULT1A1-mediated sulfation activities.
  • These findings suggest potential utility in predicting drug responses for medications metabolized by SULT1A1.