Association and interplay of genetic and epigenetic variants in smoking behavior

Richa Gupta

Research output: ThesisDoctoral ThesisCollection of Articles


Smoking is a major preventable risk factor for global morbidity and mortality and is influenced by both genetic and environmental factors. With the central goal of understanding the links between the complex trait of smoking behavior and genetic as well as epigenetic variation in the genome, this thesis focuses on identifying novel associations and validating the involvement of candidate genes in smoking behavior. An unbiased, hypothesis-free genome-wide scanning approach for association with genetic variants (single nucleotide polymorphisms; SNPs) in study I and epigenetic variants (DNA methylation) in study II were applied utilizing biomarkers of nicotine metabolism and exposure respectively. Taking a hypothesis-driven targeted approach, in study III, the involvement of neuregulin signaling pathway genes in smoking behavior was examined and validated in a phenotypically rich family sample. With the increasing and due emphasis on interpretation of associations identified in non-protein coding parts of the genome, we investigated the regulatory potential of the highlighted variants as well as assessing mediation via epigenetic mechanisms, utilizing in-house data and publicly available multi-omics resources.
Original languageEnglish
Awarding Institution
  • Faculty of Medicine
  • Kaprio, Jaakko, Supervisor
  • Ollikainen, Miina, Supervisor
Award date15 May 2018
Place of PublicationHelsinki
Print ISBNs978-951-51-4134-7
Electronic ISBNs978-951-51-4135-4
Publication statusPublished - 20 Apr 2018
MoE publication typeG5 Doctoral dissertation (article)

Fields of Science

  • 1184 Genetics, developmental biology, physiology
  • Genetics
  • Epigenetics
  • Bioinformatics
  • Statistical Genetics
  • Omics

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