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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...

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Related Experiment Video

Updated: May 28, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

'Smoking genes': a genetic association study.

Zoraida Verde1, Catalina Santiago, José Miguel Rodríguez González-Moro

  • 1Department of Biomedicine, Universidad Europea de Madrid, Villaviciosa de Odón, Comunidad de Madrid, Spain.

Plos One
|November 3, 2011
PubMed
Summary
This summary is machine-generated.

Genetic variants in nicotine metabolizing enzymes, particularly CYP2A6, are strongly associated with smoking behaviors and nicotine dependence. These findings highlight the role of metabolism over brain receptor genetics in smoking-related phenotypes.

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Last Updated: May 28, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)

Published on: April 19, 2013

Area of Science:

  • Pharmacogenetics
  • Behavioral Genetics
  • Molecular Epidemiology

Background:

  • Nicotine dependence and smoking-related phenotypes exhibit complex genetic underpinnings.
  • Previous research has yielded controversy regarding specific genetic variants linked to these traits.
  • Understanding these genetic associations is crucial for developing targeted smoking cessation strategies.

Purpose of the Study:

  • To investigate the association between smoking status and smoking-related phenotypes, including nicotine dependence.
  • To analyze 17 candidate genetic variants in genes such as CYP2A6, CYP2A13, CYP2B6, CHRNA3, CHRNA5, CNR1, DRD2-ANKK1, 5HTT LPR, HTR2A, and OPRM1.
  • To evaluate the impact of these genetic polymorphisms on smoking behavior in a Spanish cohort.

Main Methods:

  • Genotyping of 17 candidate polymorphisms in 126 Spanish smokers (cases) and 80 ethnically matched never-smokers (controls).
  • Statistical analysis to compare genotype frequencies between smokers and non-smokers.
  • Assessment of genotype effects on smoking-related phenotypes, including cigarettes per day, pack-years, and nicotine dependence (Fagestrom test).

Main Results:

  • Significant differences were observed for CYP2A6*2 and CYP2A6*12 polymorphisms between groups (P<0.001).
  • Wild-type genotypes of CYP2A6*12 and DRD2-ANKK1 2137G>A (Taq1A) were associated with a higher odds ratio for being a non-smoker.
  • CYP2A6*2 minor allele carriers had an increased odds ratio for being a non-smoker (OR=1.80).
  • Significant genotype effects were found for cigarettes per day (CYP2A13*3), pack years smoked (CYP2A6*2, CYP2A6*1×2, CYP2A13*7, CYP2B6*4, DRD2-ANKK1 2137G>A), and nicotine dependence (CYP2A6*9).

Conclusions:

  • Genetic variants involved in nicotine metabolism, particularly CYP2A6 polymorphisms, show the strongest association with smoking-related phenotypes.
  • These findings suggest that nicotine metabolism plays a more significant role than brain receptor genetics in smoking behaviors.
  • The study underscores the importance of pharmacogenetic approaches in understanding nicotine dependence and guiding personalized smoking cessation interventions.