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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome.

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Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.

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Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model
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Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model

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Phenotypes Associated With Polycystic Ovary Syndrome Risk Variants.

Anna Tidwell1, Jia Zhu2,3,4, Tess Battiola1

  • 1Division of Endocrinology, Metabolism and Diabetes, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.

Journal of the Endocrine Society
|December 17, 2024
PubMed
Summary
This summary is machine-generated.

Genetic risk variants influence key Polycystic Ovary Syndrome (PCOS) traits, including hormone levels, ovarian morphology, and obesity risk. This study links PCOS genetic predisposition to its defining clinical features.

Keywords:
androgenscholesterolgenome-wide associationobesityovary

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Area of Science:

  • Reproductive Endocrinology
  • Human Genetics
  • Metabolic Disorders

Background:

  • Polycystic Ovary Syndrome (PCOS) affects 10% of reproductive-aged women.
  • The genetic underpinnings of PCOS are increasingly understood, but their impact on clinical presentation requires further investigation.

Purpose of the Study:

  • To investigate the association between genetic risk variants and measurable phenotypic traits in Polycystic Ovary Syndrome (PCOS).
  • To determine if genetic predisposition to PCOS influences hormone levels, ovarian morphology, and obesity.

Main Methods:

  • Retrospective cohort study of 404 women with PCOS and 408 controls of European ancestry.
  • Utilized National Institutes of Health diagnostic criteria for PCOS.
  • Employed linear regression to identify associations between genetic risk variants and phenotypic traits.

Main Results:

  • Specific genetic variants were associated with altered gonadotropin (PRSS23, FSHB) and androgen (NEIL2/GATA4, CYP3) levels.
  • Genetic loci including SHBG, ZBTB16, and CYP3 showed associations with ovarian morphology.
  • A variant in the FTO locus was linked to hip circumference, influenced by body mass index.

Conclusions:

  • PCOS genetic risk variants can influence hormone levels, ovarian morphology, and obesity risk.
  • Genetic predisposition to PCOS appears to contribute to the classical clinical presentation of the syndrome.