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Related Concept Videos

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

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

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...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
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...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

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Related Experiment Video

Updated: May 9, 2026

Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
09:38

Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Published on: November 14, 2017

ADAM33 gene polymorphisms and mortality. A prospective cohort study.

Sylwia M Figarska1, Judith M Vonk, Cleo C van Diemen

  • 1University of Groningen, University Medical Center Groningen, Department of Epidemiology, Groningen, The Netherlands.

Plos One
|July 18, 2013
PubMed
Summary

The ADAM33 gene influences mortality risk. Specific genetic variations (SNPs) in ADAM33 are linked to increased all-cause, cardiovascular, and Chronic Obstructive Pulmonary Disease (COPD) mortality in a long-term study.

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Last Updated: May 9, 2026

Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
09:38

Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Published on: November 14, 2017

Area of Science:

  • Genetics and Molecular Biology
  • Respiratory Medicine
  • Cardiovascular Disease Research

Background:

  • The ADAM33 gene is implicated in the development of Chronic Obstructive Pulmonary Disease (COPD) and atherosclerosis.
  • Understanding genetic risk factors for COPD and cardiovascular disease is crucial for public health.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in the ADAM33 gene and all-cause, COPD, and cardiovascular mortality.
  • To determine if ADAM33 SNPs represent independent risk factors for mortality.

Main Methods:

  • Genotyping of ADAM33 SNPs (Q_1, S_1, S_2, T_1, T_2) in 1,390 individuals from the Vlagtwedde/Vlaardingen cohort.
  • Longitudinal follow-up for vital status over 18 years (1989/1990–2008).
  • Cox proportional hazards regression analysis, adjusting for confounders, with stratified analyses by gender and smoking habits.

Main Results:

  • Homozygosity for the minor allele of SNP T_2 was associated with a significantly increased risk of all-cause (HR 3.6) and cardiovascular mortality (HR 3.4).
  • Homozygosity for minor alleles of SNPs S_1, S_2, T_2, or Q_1 showed a significantly increased risk of COPD mortality.
  • The association between SNP T_2 and all-cause mortality remained significant across gender and smoking status strata.

Conclusions:

  • ADAM33 is a pleiotropic gene associated with all-cause, COPD, and cardiovascular mortality.
  • Specific ADAM33 SNPs are identified as potential genetic markers for increased mortality risk.
  • These findings highlight ADAM33's role in diverse disease pathways, independent of known confounders.