Title of the Seminar: Biological and Translational Insights from Large Scale Genetic andElectronicHealth Record Dataset

Date: 10/08/2023

Local Host: Indiana University School of Medicine

Seminar Series: Center for Computational Biology and Bioinformatics

Presenter: Dr. Dajiang Liu PhD MA

Reported by: Swaraj Thorat

This summary report is based on the topic Biological and translational insights from large scale genetic and electronic health record dataset by professor Dajiang Liu. Who holds the position of Vice Chair for Research Department of Public Health Sciences at Penn State College of Medicines. In this report professor Liu has addressed the numerous topics such as the background on tobacco and alcohol use, large scale study design, statistical methods, implications of findings for understanding the genetic mechanism and how to develop potential strategies for prevention and treatment.


In this era of cutting-edge technology, humanity continues to encounter a major issue which is preventable fatalities on a global scale. Professor Liu explains genetic mechanism behind tobacco and alcohol how they are playing a key role. Drinking and smoking habits are making the process difficult to understand that which type of  gene is responsible for genetic change. In the realm of genetics and public health tobacco and alcohol, presents a multifaceted challenge. These habits, which are deeply rooted in human behavior, add a layer of complexity that makes it challenging to unravel the specific genetic elements responsible for the physical and behavioral changes seen in individuals who partake in these behaviors.

In order to find the answers, dedicated research conducted involving 100,000 individuals. The objective of this research was to figure out how genetic loci connected to tobacco and alcohol consumption. Without finding that it is nearly impossible to understand which gene is causing the problem.


Genome Wide Association Study (GWAS) is a method used to conduct the research. In this study researchers observed if there are any notable differences or behavior between the individuals. In total 10 million gene variations analyzed by researchers. Then conducted numerous statistical methods to identify loci that were prominently associated with alcohol and tobacco usage. In this study, researchers found a location 400 loci, identifying genetic loci opened up new strategies for preventing and treating these behaviors. For example, scientists or researchers can create genetic tests to figure out the what the development in the genes and they can predict the situation, additionally, this could be helpful to understand the pattern and individual can follow the precautions to stop further development.

Researcher could also use these findings to develop new drugs that can target these specific genes who are involved or infected due to tobacco and alcohol. For example, researcher can develop a drug that can block or reduce the effect of dopamine. Overall, this information has potential lead to develop new strategies for preventing and treating these behaviors. The research also found that some loci which are associated with alcohol use are not associated with tobacco and vice versa. It helps to understand that there might be different genetic types of alcohol and tobacco.  

Additionally, in terms of advance techniques such as 3D structure of the genome and epigenetic information to find out important regions in genetics variations related to alcohol and tobacco. With the help of this techniques, it opens the specific features in genome. These features allow to assess the relation between genes, their position and nature on different levels. However, professor explicitly mentioned that there is a challenge when applying 3D genome technique to prioritize genetic variations in tissues, the challenge is lack of gene information.  To overcome this issue, they figured out that if tissues get grouped together based on their overall gene activity profile, they can use the 3D genome technique.

In order to uncover the gene, it is important to understand gene expression patterns of tobacco and alcohol individual. To identify the genes and pathways TWAS comes into the play. TWAS stands for Transcriptome Wide Association Studies. Essentially, TWAS helps to pinpoint genes that behave differently in the people who are consuming the alcohol and tobacco compared to those who don’t. identifying genes and pathways can play crucial role in developing novel treatments and interventions. To conclude TWAS can play crucial role for linking genetic factors to the development. However, there are challenges when using TWAS, the prime problem is data. Firstly, in order to study the tobacco and alcohol individuals, it required humongous data to draw meaningful conclusions. Secondly, the diversity in the population, African, Nigerian and Latin Americans can have different data and results genetics differences among diverse population. These were the methods discussed in the seminar along with pros and cons.


Identification of around 400 loci associated with alcohol and tobacco opened the great insights of genetic mechanism. The research and development are still under the process and have not found the substantial solution, however it is important to note that this disease is not inevitable for people who have genetic predispositions to these behaviors. One thing was substantial in the seminar that was the limitations of research. They know their limits in terms of research and data which shows the awareness of the complexities of the field, and they are not making oversimplifications

In total the outcomes and results we have received could be used to develop new strategies for preventing and treating disorders.

  1. Drug development: Novel drugs could be developed which can target the specific genes that are involved in tobacco and alcohol. A drug could be helpful to block the dopamine signal effect related to alcohol and tobacco
  2. Genetic testing: This test may offer support to identify individuals who are at high risks. Additionally, this information can be used to develop personalized interventions to reduce the risk. Researchers can develop a plan for further actions to be taken
  3. Health campaigns: Campaigns could be developed to educate people about the risk of alcohol and tobacco. It would be focus on importance of early interventions for people and can get checked up

Explanation of key titles

  • Genetic Loci: A location in the human genome
  • Dopamine Signal: Biological pathway associated with the process of learning, rewards, and motivations
  • Personalized Interventions: Interventions that are tailored to the individual needs of the patient