The role of genes and environment in the etiology of PCOS

  title={The role of genes and environment in the etiology of PCOS},
  author={Evanthia Diamanti-Kandarakis and Helen A Kandarakis and Richard S. Legro},
Both genes and the environment contribute to PCOS. Obesity, exacerbated by poor dietary choices and physical inactivity, worsens PCOS in susceptible individuals. The role of other environmental modifiers such as infectious agents or toxins are speculative. Phenotype confusion has characterized genetic studies of PCOS. Although several loci have been proposed as PCOS genes including CYP11A, the insulin gene, the follistatin gene, and a region near the insulin receptor, the evidence supporting… 

Austin Endocrinology and Diabetes Case Reports Globalization, Obesity and Polycystic Ovary Syndrome: What We Pay?

The current knowledge of the pathogenesis of PCOS along with the impact of climate change scenario and life style factors are discussed; and a light is thrown on the future direction of research.

[Role of genetic and environmental factors in the development of polycystic ovary syndrome].

It is suggested that genetic and environmental factors play a role in the development of polycystic ovary syndrome and when the authors are able to identify and then modify environmental determinants, then the health of those patients who are predisposed to disease development due to genotype or previous environmental effects will be safeguarded better.

Identifying genes associated with the development of human polycystic ovary syndrome

  • S. Saddick
  • Biology
    Saudi journal of biological sciences
  • 2020

Polycystic ovary syndrome: do endocrine-disrupting chemicals play a role?

Exposure to BPA during the perinatal period dramatically disrupts ovarian and reproductive function in females, often at doses similar to typical levels of human exposure, and appears to have obesogenic properties, disrupting normal metabolic activity and making the body prone to overweight.

DNA Methylation in the Pathogenesis of Polycystic Ovary Syndrome.

This review aims to provide an overview of current research focused on DNA methylation and PCOS, as well as discuss the perspectives regarding this topic.

Association SOD2 and PON1 Gene Polymorphisms with Polycystic Ovary Syndrome in Saudi Women

SOD2 and PON1 polymorphisms may be genetic factors that affect the occurrence of PCOS in Saudi females and appears to confer protection against the disease compared to molecules sharing at least one valine.

Inositols’ Importance in the Improvement of the Endocrine–Metabolic Profile in PCOS

The aim of this review is to present the effectiveness of MI and DCI treatment for PCOS symptoms, and is focused on analyzing the use of inositols, taking into account their physiological properties, together with the mechanism of individual PCOS symptom formation.


AMH being more stable during the entire menstrual periods could be used as a better marker over FSH and LH for diagnosis of polycystic ovary syndrome especially where the ultra sonographic examination of the ovaries is not feasible.

Genotype-independent association between vitamin D deficiency and polycystic ovarian syndrome in Lahore, Pakistan

A strong and independent association between vitamin D deficiency and risk of PCOS in Pakistan, that was not modified by genetic variation in the vitamin D pathway is reported.



Allelic variants of the follistatin gene in polycystic ovary syndrome.

It is concluded that contributions to the etiology of PCOS from the follistatin gene, if any, are likely to be small.

Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism.

The data demonstrate that variation in CYP11a may play an important role in the aetiology of hyperandrogenaemia which is a common characteristic of polycystic ovary syndrome.

Leptin and its association with polycystic ovary syndrome: a twin study

It was concluded that the incidence of PCOS is high among twins, and that leptin is likely to be genetically determined, although the effect of environmental factors cannot be denied.

Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone.

Two studies indicate that the strength of, and indeed the existence of, associations between CYP11A promoter variation and androgen-related phenotypes has been substantially overestimated in previous studies.

Candidate gene region for polycystic ovary syndrome on chromosome 19p13.2.

The present analysis suggests that a PCOS susceptibility locus maps very close to D19S884, and additional studies that systematically characterize DNA sequence variation in the immediate area of D 19S884 are required to identify the PCos susceptibility variant.

Thirty-seven candidate genes for polycystic ovary syndrome: strongest evidence for linkage is with follistatin.

  • M. UrbanekR. Legro A. Dunaif
  • Medicine, Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1999
This study shows how a systematic screen of candidate genes can provide strong evidence for genetic linkage in complex diseases and can identify those genes that should have high (or low) priority for further study.

Developmental origin of polycystic ovary syndrome - a hypothesis.

It is proposed that the clinical and biochemical features of PCOS can arise as a consequence of genetically determined hypersecretion of androgens by the ovary during, or very likely long before, puberty, and a unifying, 'linear' model is suggested to explain the aetiology of the heterogeneous phenotype.

Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome.

There is familial aggregation of hyperandrogenemia (with or without oligomenorrhea) in PCOS kindreds, and it is proposed that hyper androgenemia be used to assign affected status in linkage studies designed to identify PCOS genes.

Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome.

In addition to its association with insulin levels in African-Americans, the 112/121-haplotype combination was associated with an approximate 2-fold increase in risk of PCOS in both African-American and whites.