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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...
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Pleiotropy

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Related Experiment Video

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Identification and Characterization of Immunogenic RNA Species in HDM Allergens that Modulate Eosinophilic Lung Inflammation
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Sex-specific effect of IL9 polymorphisms on lung function and polysensitization.

H Aschard1, E Bouzigon, E Corda

  • 1INSERM, U946, Fondation Jean Dausset/CEPH, Paris 75010, France. hugues.aschard@inserm.fr

Genes and Immunity
|June 19, 2009
PubMed
Summary
This summary is machine-generated.

This study identified sex-specific genetic factors influencing asthma, including a male-specific region on chromosome 5q31 affecting lung function and sensitization, and a female-specific region on 11q23 impacting immunoglobulin E and sensitization.

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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

Area of Science:

  • Genetics
  • Pulmonology
  • Immunology

Background:

  • Asthma phenotypes exhibit known sex differences, yet the underlying genetic factors remain largely unexplored.
  • Understanding sex-specific genetic contributions is crucial for a comprehensive view of asthma's complex etiology.

Purpose of the Study:

  • To identify sex-specific and pleiotropic genetic factors associated with key asthma quantitative phenotypes.
  • To investigate genetic influences on immunoglobulin E levels, polysensitization (SPTQ), eosinophil counts, and lung function (FEV(1)/H(2)).

Main Methods:

  • Utilized sex-stratified univariate and bivariate linkage analyses in 295 families from the Epidemiological study on the Genetics and Environment of Asthma.
  • Performed bivariate association analysis of specific genes with asthma phenotypes in identified linkage regions.

Main Results:

  • Identified a genome-wide significant male-specific pleiotropic quantitative trait locus (QTL) on 5q31 influencing both FEV(1)/H(2) and SPTQ.
  • Discovered a female-specific pleiotropic QTL on 11q23 affecting SPTQ and immunoglobulin E levels.
  • Detected additional sex-specific linkage regions for eosinophil counts on chromosomes 4q24, 22q13 (females), and 3p25 (males).
  • Found significant associations between FEV(1)/H(2), SPTQ, and IL9 gene single-nucleotide polymorphisms (rs2069885, rs2069882) in males on 5q31.

Conclusions:

  • Highlights the importance of considering sex as a biological variable in genetic studies of asthma.
  • Demonstrates the role of sex-specific and pleiotropic genetic factors in asthma pathophysiology.
  • Suggests that incorporating sex heterogeneity and pleiotropy is essential for unraveling genes involved in asthma phenotypes.