Ovarian function and disorders

This study examines how sex influences the genetic risk of PCOS on metabolic traits using polygenic risk scores and EHR data.

This study identifies 422 and 177 candidate genes associated with PCOS in whole blood and ovary through transcriptome-wide association analysis and functional enrichment.

This study identifies key genes and pathways in PCOS and its complications using NGS data and bioinformatics analysis.

This study analyzes transcriptome changes in oocytes of adolescent-onset PCOS mice, identifying key pathways and genes involved in disease progression.

This study reviews and meta-analyzes genetic associations between the mitochondrial genome and polycystic ovary syndrome, finding specific mtDNA variants and copy number differences.

This study investigates the effects of electroacupuncture on hypothalamic neuropeptide Y and ghrelin in pubertal rats with PCOS, finding that electroacupuncture improves symptoms by modulating these factors.

The paper identifies 15 SNPs associated with androgen production in theca cells and a haplotype on chromosome 12q13.2 linked to PCOS and AMH levels.

This study uses Mendelian randomisation to investigate the causal effects of obesity on female reproductive conditions, finding that central obesity and metabolic hormones mediate these associations.

This study identifies three novel low-frequency variants associated with PCOS using a Finnish-Estonian GWAS, highlighting the value of population-specific genetic analysis.

This study identifies genetic clusters associated with PCOS subtypes and finds causal links between BMI, SHBG, and PCOS.

This study shows that deleting the hepatic androgen receptor in female mice prevents androgen-induced insulin resistance and glucose intolerance.

This study identifies two stable subtypes of PCOS with distinct genetic associations through phenotypic clustering and GWAS.

This study performs a meta-analysis of 24 case-control studies to assess the association between MTHFR C677T polymorphism and PCOS susceptibility, finding significant links in Asian populations but not in Caucasians.

This paper identifies novel genetic variants associated with PCOS using EHR-based GWAS and validates them in independent cohorts.

This study uses Bayesian colocalization to identify genes potentially mediating polycystic ovary syndrome risk by linking genetic risk loci to intermediate phenotypes.

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

This study identifies rare noncoding variants in DENND1A associated with PCOS traits through family-based whole-genome sequencing and quantitative trait meta-analysis.

The paper identifies S100A8 as a drug target in PCOS and validates an RNA aptamer that inhibits its activity in vitro.

This study identifies a genetic variant associated with AMH levels in pre-menopausal women and links AMH to reproductive lifespan.

This study performs a large-scale genome-wide meta-analysis of PCOS cases and identifies genetic loci associated with PCOS and related traits, showing shared genetic architecture across different diagnostic criteria.

This study investigates the link between polycystic ovary syndrome (PCOS) and endogenous alcohol production, finding that PCOS may be an endogenous alcoholic syndrome due to gut microbiota producing ethanol and acetaldehyde.