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Genetic studies reveal hundreds of variants influencing hormone levels, aiding understanding of hormone metabolism and disease links. Future genetic profiling may personalize patient care for nuclear receptor-related conditions.

Keywords:
GWASLigandsMendelian randomizationNuclear receptorsPolygenic risk scores

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Area of Science:

  • Genetics
  • Endocrinology
  • Metabolomics

Background:

  • Genome-wide association studies (GWAS) on nuclear receptors are limited, but extensive research exists on their ligands (hormones, vitamins).
  • Hundreds of genetic variants linked to serum levels of nuclear receptor ligands offer insights into hormone metabolism.
  • Existing GWAS data primarily comes from European populations.

Purpose of the Study:

  • To summarize the genetic insights into nuclear receptor ligand levels from GWAS.
  • To highlight the utility of these genetic markers in understanding disease pathophysiology and clinical management.
  • To explore the future potential of genetically predicted hormonal profiles in personalized medicine.

Main Methods:

  • Review of genome-wide association studies (GWAS) focusing on nuclear receptor ligands.
  • Integration of GWAS findings with Mendelian randomization (MR) studies and polygenic risk scores.
  • Discussion of emerging trans-ethnic GWAS and advancements in genotyping technology.

Main Results:

  • Hundreds of genetic variants associated with serum levels of steroid hormones, thyroid hormones, and liposoluble vitamins have been identified.
  • GWAS findings illuminate the physiology of hormone metabolism.
  • Genetic markers provide insights into causal associations with complex traits and diseases.

Conclusions:

  • GWAS-identified genetic markers are crucial for understanding hormonal pathophysiology and its link to clinical complications.
  • These markers have the potential to significantly impact daily clinical management of patients.
  • Genetically predicted hormonal profiling represents a future direction for personalized patient management in nuclear receptor-related diseases.