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Genetic variations of NR1I3 and NR2B1 in Asian populations

Sin Chi Chew1, Joanne Siok Liu Lim, Onkar Singh

  • 1Laboratory of Clinical Pharmacology, Division of Medical Sciences, Humphrey Oei Institute of Cancer Research, National Cancer Centre, Singapore, Singapore.

Drug Metabolism and Pharmacokinetics
|August 2, 2012
PubMed

Insights

Genetic variations in NR1I3 and NR2B1 genes, which encode the CAR-RXRα heterodimer, were analyzed in Asian populations. Indians showed distinct genetic distributions compared to Chinese and Malays, informing future pharmacogenetics.

Area of Science:

  • Pharmacogenetics
  • Molecular biology
  • Genomics

Background:

  • Nuclear receptors, particularly the CAR-RXRα heterodimer (NR1I3 and NR2B1), act as xenosensors.
  • This heterodimer regulates genes involved in drug metabolism and disposition.

Purpose of the Study:

  • To investigate the frequency distribution and linkage disequilibrium of NR1I3 and NR2B1 genetic variations.
  • To identify tag-SNPs for future pharmacogenetic studies in diverse Asian populations.

Main Methods:

  • Screening of NR1I3 and NR2B1 genes in 168 healthy Asian subjects (Chinese, Malays, Indians).
  • Identification and analysis of single nucleotide polymorphisms (SNPs) and linkage disequilibrium patterns.
  • In-silico prediction of functional SNPs.

Main Results:

  • 38 SNPs in NR1I3 and 88 SNPs in NR2B1 were identified, with many novel low-frequency variants.
  • Genetic variations were primarily in introns; exons were conserved across ethnic groups.
  • Indians exhibited distinct allele frequency distributions compared to Chinese and Malays.

Conclusions:

  • Significant ethnic differences in NR1I3 and NR2B1 genetic variations were observed among Asian populations.
  • Identified tag-SNPs provide a valuable resource for future pharmacogenetic studies.
  • Understanding these genetic variations is crucial for personalized medicine approaches to drug response.

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