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Genetic interaction between two VNTRs in the MAOA gene is associated with the nicotine dependence.

Gea KõksEle PransXuan Dung HoBinh H DuyHa Dt TranNgoc Bt NgoLinh Nn HoangHue Mt TranVivien J BubbJohn P QuinnSulev Kõks
Published in: Experimental biology and medicine (Maywood, N.J.) (2020)
The present study combined the analysis of two transcriptional regulators, uVNTR and dVNTR, in the MAOA gene that is an enzyme responsible for the monoamine degradation and identified genetic interaction between these VNTRs in association with the nicotine dependence. The main impact is that when analyzing different populations in the genetic studies, the functionally meaningful variants should be combined rather than addressing individual elements separately (a mini polygenic risk score for a particular gene/locus). This combination is very rarely analyzed and therefore the study sets an example. Another impact is that we analyzed the genetic variability in the Asian population and therefore our data present a piece of information from underrepresented populations.
Keyphrases
  • copy number
  • genome wide
  • dna methylation
  • gene expression
  • transcription factor
  • smoking cessation
  • genome wide identification
  • healthcare
  • machine learning
  • big data
  • health information
  • artificial intelligence