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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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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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Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...

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Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
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Beta-fibrinogen G-455A polymorphisms and recurrent miscarriage.

Carlo Ticconi1, Francesca Mancinelli, Paolo Gravina

  • 1Department of Surgery, Section of Gynecology and Obstetrics, Tor Vergata University, Rome, Italy. ticconi@med.uniroma2.it

Gynecologic and Obstetric Investigation
|December 17, 2010
PubMed
Summary

The β-fibrinogen G-455A A/A genotype may increase the risk of recurrent miscarriage (RM). However, allele frequencies did not differ between women with RM and controls, suggesting a minimal effect of this polymorphism on RM.

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Published on: August 4, 2021

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Hematology

Background:

  • Recurrent miscarriage (RM) is a complex condition affecting reproductive health.
  • The role of genetic factors, specifically β-fibrinogen G-455A polymorphism, in RM is under investigation.

Purpose of the Study:

  • To determine if genotype and allele frequencies of β-fibrinogen G-455A differ in women experiencing recurrent miscarriage (RM).

Main Methods:

  • Sequencing analysis was employed to investigate the β-fibrinogen G-455A polymorphism.
  • The study included 98 women with RM and 78 control women without a history of miscarriage.

Main Results:

  • A significant difference in the β-fibrinogen G-455A A/A genotype frequency was observed between women with RM and controls.
  • The A/A genotype was present in 8.2% of women with RM but was absent in the control group.
  • No significant differences were found in the allele frequencies of β-fibrinogen G-455A between the RM and control groups.

Conclusions:

  • The A/A genotype of β-fibrinogen G-455A may be associated with an increased risk of recurrent miscarriage.
  • The similar allele frequencies suggest that the impact of this specific β-fibrinogen polymorphism on RM is likely very slight.