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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...
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Nature and Nurture

Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience, such as differences...
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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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Related Experiment Video

Updated: Jul 11, 2026

Culturing and Measuring Fetal and Newborn Murine Long Bones
06:58

Culturing and Measuring Fetal and Newborn Murine Long Bones

Published on: April 26, 2019

PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton.

Carles Vilariño-Güell1, Lisa J Miles, Emma L Duncan

  • 1Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Orthopaedic Centre, University of Oxford, Headington, Oxford, UK.

Calcified Tissue International
|September 22, 2007
PubMed
Summary

Genetic variations in the PTHR1 gene are linked to bone mineral density (BMD) in younger adults. These PTHR1 gene polymorphisms influence peak bone mass attainment, impacting skeletal health.

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Last Updated: Jul 11, 2026

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Published on: April 26, 2019

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Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
07:56

Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts

Published on: January 29, 2018

Area of Science:

  • Genetics
  • Bone Biology
  • Osteoporosis Research

Background:

  • Bone mineral density (BMD) is a key determinant of skeletal health and fracture risk.
  • Genetic factors play a significant role in regulating BMD and peak bone mass.
  • The parathyroid hormone receptor 1 (PTHR1) gene is a potential candidate for influencing BMD.

Purpose of the Study:

  • To investigate the association between polymorphisms in the PTHR1 gene and BMD.
  • To determine if PTHR1 gene variations affect peak bone mass attainment or bone loss.
  • To identify specific PTHR1 polymorphisms and haplotypes associated with BMD variations.

Main Methods:

  • Screening of the PTHR1 gene (exons, intron-exon boundaries, promoter region) for polymorphisms using dHPLC and sequencing.
  • Genotyping of selected single-nucleotide polymorphisms (SNPs) and a tetranucleotide repeat in an osteoporosis family cohort and the ALSPAC cohort.
  • Statistical association analyses were performed to link genotypes and haplotypes with BMD measures and height.

Main Results:

  • Eleven SNPs, one tetranucleotide repeat, and one tetranucleotide deletion were identified in the PTHR1 gene.
  • Association between lumbar spine BMD and a functional tetranucleotide repeat (U4) in the PTHR1 promoter was observed (P = 0.042).
  • Haplotypes of PTHR1 polymorphisms were associated with lumbar spine, femoral neck, and total hip BMD in younger individuals (16-39 years) and with height and BMD in the ALSPAC cohort.

Conclusions:

  • PTHR1 gene variations are associated with BMD, particularly in younger adults.
  • These findings suggest that PTHR1 plays a role in the attainment of peak bone mass.
  • Further research into PTHR1's function in bone metabolism is warranted.