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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...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Multiple Allele Traits01:49

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Multiple Allele Traits01:49

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

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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...
Single Nucleotide Polymorphisms-SNPs01:05

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Related Experiment Video

Updated: Jun 18, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

The FAS -670A>G polymorphism influences susceptibility to systemic sclerosis phenotypes.

J Broen1, P Gourh, B Rueda

  • 1Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

Arthritis and Rheumatism
|December 2, 2009
PubMed
Summary

The FAS -670A>G polymorphism is linked to increased susceptibility to limited cutaneous systemic sclerosis (SSc). This genetic factor may influence the development of SSc and other autoimmune conditions.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Related Experiment Videos

Last Updated: Jun 18, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Genetics
  • Immunology
  • Rheumatology

Background:

  • Systemic sclerosis (SSc) is a complex autoimmune disease with a significant genetic component.
  • The Fas receptor pathway plays a crucial role in immune regulation and apoptosis.
  • Investigating specific gene polymorphisms can elucidate SSc pathogenesis.

Purpose of the Study:

  • To determine if the FAS -670A>G functional polymorphism contributes to systemic sclerosis (SSc) susceptibility.
  • To assess the association of this polymorphism with the clinical phenotype of SSc.

Main Methods:

  • Genotype and allele frequencies of the FAS -670A>G polymorphism were analyzed.
  • A large cohort study included 2,900 SSc patients and 3,186 healthy controls across 9 distinct ethnic cohorts.
  • TaqMan 5' allelic discrimination assay was used for genotyping.

Main Results:

  • The FAS -670G allele and -670GG genotype were associated with limited cutaneous SSc (lcSSc) across multiple cohorts.
  • Meta-analysis confirmed the association of the FAS -670G allele (OR 1.10) and -670GG genotype (OR 1.13) with lcSSc.
  • A recessive model of the -670GG genotype showed a strong association with SSc, lcSSc, and anticentromere antibody-positive lcSSc.

Conclusions:

  • The FAS -670A>G polymorphism is implicated in the genetic predisposition to limited cutaneous systemic sclerosis (SSc) susceptibility.
  • These findings suggest a role for the Fas pathway in SSc pathogenesis.
  • Similar trends observed in other autoimmune diseases warrant further investigation.