Active: Polycystic ovary syndrome Clear all

GWAS 2025-04-14

Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.

Venkatesh SS, Wittemans LBL et al.

Nat Genet

Genome-wide association studies (GWASs) may help inform the etiology of infertility. Here, we perfor...

Female infertility (anatomical)

675144

Participants

N/A

Studies

Details PubMed

GWAS 2024-02-26

Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry.

Burns K, Mullin BH et al.

BMC Genomics

Polycystic ovary syndrome (PCOS) is a complex multifactorial disorder with a substantial genetic com...

Polycystic ovary syndrome in lean individuals (BMI <= 25 kg/m2)

119584

Participants

N/A

Studies

Details PubMed

GWAS 2022-11-01

Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans.

Weston E, Pangilinan F et al.

J Nutr

Myo-inositol (MI) is incorporated into numerous biomolecules, including phosphoinositides and inosit...

Plasma myo-inositol levels

2232

Participants

N/A

Studies

Details PubMed

GWAS 2022-06-30

A genome-wide cross-trait analysis identifies shared loci and causal relationships of type 2 diabetes and glycaemic traits with polycystic ovary syndrome.

Liu Q, Tang B et al.

Diabetologia

Aims/hypothesis: The link underlying abnormal glucose metabolism, type 2 diabetes and polycystic ova...

Type 2 diabetes or polycystic ovary syndrome (pleiotropy)

1011368

Participants

N/A

Studies

Details PubMed

GWAS 2021-11-13

Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome.

Tyrmi JS, Arffman RK et al.

Hum Reprod

Study question: Can we identify novel variants associated with polycystic ovary syndrome (PCOS) by l...

Polycystic ovary syndrome (adjusted for age)

Replicated

374753

Participants

N/A

Studies

Details PubMed

GWAS 2021-05-12

Genetic evidence for different adiposity phenotypes and their opposing influence on ectopic fat and risk of cardiometabolic disease.

Martin S, Cule M et al.

Diabetes

To understand the causal role of adiposity and ectopic fat in type 2 diabetes and cardiometabolic di...

Body fat percentage

442278

Participants

N/A

Studies

Details PubMed

GWAS 2020-06-23

Distinct subtypes of polycystic ovary syndrome with novel genetic associations: An unsupervised, phenotypic clustering analysis.

Dapas M, Lin FTJ et al.

PLoS Med

Polycystic ovary syndrome (PCOS) is a common, complex genetic disorder affecting up to 15% of reprod...

Polycystic ovary syndrome (reproductive subtype)

Replicated

4305

Participants

N/A

Studies

Details PubMed

GWAS 2020-04-11

A genome-wide association study of polycystic ovary syndrome identified from electronic health records.

Zhang Y, Ho K et al.

Am J Obstet Gynecol

Polycystic ovary syndrome is the most common endocrine disorder affecting women of reproductive age....

Polycystic ovary syndrome

Replicated

56594

Participants

N/A

Studies

Details PubMed

GWAS 2020-03-17

A genome-wide association study identifies FSHR rs2300441 associated with follicle-stimulating hormone levels.

Yan J, Tian Y et al.

Clin Genet

Follicle-stimulating hormone (FSH) and luteinizing hormone (LH) play critical roles in female reprod...

Follicle stimulating hormone levels

2590

Participants

N/A

Studies

Details PubMed

GWAS 2020-02-10

Using human genetics to understand the disease impacts of testosterone in men and women.

Ruth KS, Day FR et al.

Nat Med

Testosterone supplementation is commonly used for its effects on sexual function, bone health and bo...

Bioavailable testosterone levels

188507

Participants

N/A

Studies

Details PubMed

GWAS 2018-12-19

Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.

Day F, Karaderi T et al.

PLoS Genet

Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism, ovulatory dysfunct...

Polycystic ovary syndrome

113238

Participants

N/A

Studies

Details PubMed

GWAS 2018-10-19

High Genetic Risk Scores of ASIC2, MACROD2, CHRM3, and C2orf83 Genetic Variants Associated with Polycystic Ovary Syndrome Impair Insulin Sensitivity and Interact with Energy Intake in Korean Women.

Kim SH, Liu M et al.

Gynecol Obstet Invest

We explored the genetic variants that were associated with polycystic ovary syndrome (PCOS) by genom...

Polycystic ovary syndrome

422

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.

Venkatesh SS, Wittemans LBL et al.

Nat Genet

Female infertility (anatomical)

2025-04-14

Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry.

Burns K, Mullin BH et al.

BMC Genomics

Polycystic ovary syndrome in lean individuals (BMI <= 25 kg/m2)

2024-02-26

Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans.

Weston E, Pangilinan F et al.

J Nutr

Plasma myo-inositol levels

2022-11-01

A genome-wide cross-trait analysis identifies shared loci and causal relationships of type 2 diabetes and glycaemic traits with polycystic ovary syndrome.

Liu Q, Tang B et al.

Diabetologia

Type 2 diabetes or polycystic ovary syndrome (pleiotropy)

2022-06-30

Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome.

Tyrmi JS, Arffman RK et al.

Hum Reprod

Polycystic ovary syndrome (adjusted for age)

2021-11-13

Genetic evidence for different adiposity phenotypes and their opposing influence on ectopic fat and risk of cardiometabolic disease.

Martin S, Cule M et al.

Diabetes

Body fat percentage

2021-05-12

Distinct subtypes of polycystic ovary syndrome with novel genetic associations: An unsupervised, phenotypic clustering analysis.

Dapas M, Lin FTJ et al.

PLoS Med

Polycystic ovary syndrome (reproductive subtype)

2020-06-23

A genome-wide association study of polycystic ovary syndrome identified from electronic health records.

Zhang Y, Ho K et al.

Am J Obstet Gynecol

Polycystic ovary syndrome

2020-04-11

A genome-wide association study identifies FSHR rs2300441 associated with follicle-stimulating hormone levels.

Yan J, Tian Y et al.

Clin Genet

Follicle stimulating hormone levels

2020-03-17

Using human genetics to understand the disease impacts of testosterone in men and women.

Ruth KS, Day FR et al.

Nat Med

Bioavailable testosterone levels

2020-02-10

Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.

Day F, Karaderi T et al.

PLoS Genet

Polycystic ovary syndrome

2018-12-19

High Genetic Risk Scores of ASIC2, MACROD2, CHRM3, and C2orf83 Genetic Variants Associated with Polycystic Ovary Syndrome Impair Insulin Sensitivity and Interact with Energy Intake in Korean Women.

Kim SH, Liu M et al.

Gynecol Obstet Invest

Polycystic ovary syndrome

2018-10-19