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Related Concept Videos

Human Genetics01:28

Human Genetics

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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...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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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...
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Cancer Prevention02:59

Cancer Prevention

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Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
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Genetic Lingo01:11

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Overview
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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...
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Related Experiment Video

Updated: May 3, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

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Genetic susceptibility.

Stefan J Marciniak1, David A Lomas2

  • 1Division of Respiratory Medicine, Department of Medicine, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK; Cambridge Institute for Medical Research (CIMR), University of Cambridge, Wellcome Trust/MRC Building, Hills Road, Cambridge CB2 0XY, UK.

Clinics in Chest Medicine
|February 11, 2014
PubMed
Summary
This summary is machine-generated.

Genetic factors explain why only some smokers develop chronic obstructive pulmonary disease (COPD). Research is identifying specific genetic variants that increase susceptibility to COPD, a complex lung disease.

Keywords:
COPDEmphysemaGWASGeneticsSNP

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Area of Science:

  • Genetics and Respiratory Medicine

Background:

  • Chronic obstructive pulmonary disease (COPD) affects a subset of smokers, with the reasons for varying susceptibility being unclear.
  • Epidemiologic studies suggest a significant genetic influence on COPD development.

Purpose of the Study:

  • To review current data on genetic loci and genes implicated in the pathogenesis of COPD.
  • To understand the heritable component of COPD susceptibility.

Main Methods:

  • Examination of data from genome-wide association studies (GWAS).
  • Analysis of candidate genes associated with COPD risk.
  • Review of epidemiologic findings on COPD heritability.

Main Results:

  • Identification of specific genetic variants contributing to COPD susceptibility.
  • Confirmation of a substantial heritable component in COPD pathogenesis.

Conclusions:

  • Genetic factors play a crucial role in determining an individual's risk of developing COPD.
  • Ongoing research using genetic analysis is key to understanding COPD susceptibility.