A genome-wide association study of anti-Müllerian hormone (AMH) levels in Samoan women DOI
Zeynep Erdogan-Yildirim, Jenna C. Carlson, Mohanraj Krishnan

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 8, 2024

Abstract Study question Can a genome-wide association study (GWAS) and transcriptome-wide (TWAS) help identify genetic variation or genes associated with circulating anti-Müllerian hormone (AMH) levels in Samoan women? Summary answer We identified eleven suggestive loci (strongest signal ARID3A 19-946163-G-C [ p = 2.32 × 10⁻⁷]) seven significant ( GINS2, SENP3, USP7, TUSC3, MAFA, METTL4, NDFIP1 [all < 2.50 10⁻⁶]) AMH women. What is known already Three prior GWASs of eight premenopausal women European ancestry (AMH, MCM8, TEX41 , CHECK2, CDCA7 EIF4EBP1, BMP4 an uncharacterized non-coding RNA gene CTB-99A3.1 ), among which the MCM8 locus was shared all three studies. design, size, duration included sample 1,185 from two independently recruited samples: family n 212; [age: 18 to 40 years]) 2002–03 Samoa American Samoa; Soifua Manuia 973; age: 25 51 years), crosssectional population-based 2010 Samoa. Participants/materials, setting, methods Serum were measured using enzyme linked immunosorbent assays (ELISA). performed participant samples Cox mixed-effects model account for below detectable limits adjusted centered age, age², polity, kinship via matrix. The summary statistics then meta-analyzed fixed-effect model. annotated variants 1 10⁻⁵ calculated posterior probability causality prioritization. further FUMA colocalization analysis. also assessed whether any previously reported replicated our GWAS. Main results role chance novel 10⁻⁵) locus, lead variant high linkage disequilibrium r ² 0.79) age-at-menopause 19-950694-G-A. Nearby KISS1R biologically plausibility causal region; kisspeptin regulates ovarian follicle development has been levels. Further investigation warranted. Limitations, reasons caution main limitations are small size GWAS use transcription trained on mostly Genotype Tissue Expression (GTEx) project, may have led reduced power detect genotype-expression associations. Our findings need be validated larger Polynesian cohorts. Wider implications In addition replicating one discovered loci, we new It that inclusion founder populations aids discovery loci. These could enhance understanding AMH-related reproductive phenotypes (ovarian reserve, age at menopause, premature failure, polycystic ovary syndrome) build screening approach risk these genetically predicted funding/competing interest(s) This work funded by NIH grants R01-HL093093 (PI: S.T.M.), R01-HL133040 R.L.M.), T90-DE030853 C.S. Sfeir). Molecular data Trans-Omics Precision Medicine (TOPMed) Program supported National Heart, Lung Blood Institute (NHLBI). content solely responsibility authors does not represent official views Institutes Health.

Language: Английский

Polycystic ovary syndrome DOI
Elisabet Stener‐Victorin, Helena Teede, Robert J. Norman

et al.

Nature Reviews Disease Primers, Journal Year: 2024, Volume and Issue: 10(1)

Published: April 18, 2024

Language: Английский

Citations

96
Metabolic Dysfunction-Associated Steatotic Liver Disease and Polycystic Ovary Syndrome: A Complex Interplay DOI Open Access
Konstantinos Arvanitakis, Elena Chatzikalil, Georgios Kalopitas

et al.

Journal of Clinical Medicine, Journal Year: 2024, Volume and Issue: 13(14), P. 4243 - 4243

Published: July 20, 2024

Metabolic dysfunction-associated steatotic liver disease (MASLD) and polycystic ovary syndrome (PCOS) are prevalent conditions that have been correlated with infertility through overlapped pathophysiological mechanisms. MASLD is associated metabolic considered among the major causes of chronic disease, while PCOS, which characterized by ovulatory dysfunction hyperandrogenism, one leading female infertility. The links between PCOS not yet fully elucidated, insulin resistance, hyperandrogenemia, obesity, dyslipidemia being key pathways contribute to lipid accumulation, inflammation, fibrosis, aggravating dysfunction. On other hand, exacerbates resistance dysregulation in women creating a vicious cycle progression. Understanding intricate relationship crucial improving clinical management, collaborative efforts different medical specialties essential optimize fertility health outcomes individuals PCOS. In this review, we summarize complex interplay highlighting importance increasing attention prevention, diagnosis, treatment both entities.

Language: Английский

Citations

4
From Biobanking to Personalized Medicine: the journey of the Estonian Biobank DOI Creative Commons
Lili Milani, Maris Alver, Sven Laur

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Sept. 24, 2024

Abstract Large biobanks have set a new standard for research and innovation in human genomics implementation of personalised medicine. The Estonian Biobank was founded quarter century ago, its biological specimens, clinical, health, omics, lifestyle data been included over 800 publications to date. What makes the biobank unique internationally is translational focus, with active efforts conduct clinical studies based on genetic findings, explore effects return results participants. In this review we provide an overview Biobank, highlight strengths studying variation quantitative phenotypes health-related traits, development methods frameworks bringing into clinic, role as driving force implementing personalized medicine national level beyond.

Language: Английский

Citations

4
Evaluation of some physiological and histological variables in women with polycystic ovary syndrome in Kirkuk / Iraq DOI Creative Commons
Hasbi Ibrahim, Sami Ibrahim Abdullah,

Amera Kamal Mohammed

et al.

International Journal of Gynaecology Research, Journal Year: 2025, Volume and Issue: 7(1), P. 01 - 05

Published: Jan. 1, 2025

The aim of the current scientific study is to measure concentrations following variables (FSH, LH, Testosterone, AMH, IR) in women with Polycystic Ovary Syndrome. was conducted from September 2023 May 2023, and specimen were composed visitors Kirkuk General Hospital specialized medical clinics city Kirkuk. included (55) ills polycystic ovary syndrome. Aged (20-40) years an average body mass index (29.078) kg/m², (45) healthy subjects (23.960) kg/m2 same age as ills. These samples distributed follows: control group females, while patient three groups according groups, first (20-26) 20 patients, second (27-33) 25 third (34-40) 10 patients. results concluded that there a significant increase (p>0.05) levels (Testosterone, IR, LH) decrease level FSH syndrome compared groups.

Language: Английский

Citations

0
Interface between reproductive and metabolic dysfunction in polycystic ovary syndrome DOI
Melody A. Rasouli,

Jessica Katz,

Daniel A. Dumesic

et al.

Current Opinion in Obstetrics & Gynecology, Journal Year: 2025, Volume and Issue: unknown

Published: April 29, 2025

Purpose of review New concepts have emerged regarding how interrelationships hyperandrogenism and hyperinsulinemia from systemic insulin resistance contribute to the origins polycystic ovary syndrome (PCOS). Although these androgen-insulin are associated with several reproductive metabolic variables, their specific cause effect relationships remain unclear. This examines causal between understand complex interactions phenotypic expression PCOS. Recent findings Clinical interventions for treatments as well in-vitro studies androgen actions on critical target tissues examined why central Summary Bidirectional in normal-weight PCOS women may originally evolved an ancient adaptation simultaneously favor fat storage energy utilization survival reproduction during famine. These now predispose diseases pregnancy complications today’s obesogenic environment and, therefore, require improved preventive healthcare optimize long-term health children.

Language: Английский

Citations

0
The Role of Gene Alterations in the Pathogenesis of Polycystic Ovary Syndrome DOI Open Access
Enrico Carmina

Journal of Clinical Medicine, Journal Year: 2025, Volume and Issue: 14(10), P. 3347 - 3347

Published: May 12, 2025

Family studies have shown that polycystic ovary syndrome (PCOS) has probable genetic transmission because of a high incidence relatives who present clinical or biochemical characters the syndrome. However, initial candidate gene were unsuccessful. Genome wide association (GWASs) at least 29 alterations are common in PCOS, but it been calculated altered genes found by GWASs may represent only 10% affected patients. Rare uncoding explain an additional group In many other patients, risk condition for development syndrome, and new some mainly concern androgen production be PCOS. Finally, most epigenetic environmental factors necessary to transform into this important

Language: Английский

Citations

0
A influência dos disruptores endócrinos na saúde feminina DOI Open Access

G. Gruber,

Maria Araújo, Simone Gonçalves de Almeida

et al.

Research Society and Development, Journal Year: 2024, Volume and Issue: 13(12), P. e37131247579 - e37131247579

Published: Nov. 30, 2024

Introdução: Os Disruptores Endócrinos (DEs) são produtos químicos de fácil acesso humano e presentes no cotidiano. Sendo assim, esses como ftalatos, bisfenol A (BPA), S (BPS), entre outros, estão associados a algumas doenças diabetes condições do aparelho reprodutivo feminino, endometriose Síndrome Ovário Policístico (SOP). Objetivo: Avaliar as influências potenciais que os disruptores endócrinos apresentam sobre saúde feminina. Metodologia: Trata-se uma revisão narrativa partir da análise artigos estudos científicos publicados 2014 2024, sendo bases dados utilizadas foram PubMed, Scielo EBSCO, forma critérios para inclusão dos foi baseada na conteúdos, título consequente relevância temática; descritores em utilizados (SOP), endócrinos, tipo 2. Resultados: selecionados analisados demonstram indicadores possível relação o contato com DEs incidência diabetes, SOP, endometriose, câncer infertilidade. Conclusão: Este estudo elucidou significativa associação exposição aos prevalentes sociedade, principalmente público obesidade câncer.

Citations

1
A genome-wide association study of anti-Müllerian hormone (AMH) levels in Samoan women DOI
Zeynep Erdogan-Yildirim, Jenna C. Carlson, Mohanraj Krishnan

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 8, 2024

Abstract Study question Can a genome-wide association study (GWAS) and transcriptome-wide (TWAS) help identify genetic variation or genes associated with circulating anti-Müllerian hormone (AMH) levels in Samoan women? Summary answer We identified eleven suggestive loci (strongest signal ARID3A 19-946163-G-C [ p = 2.32 × 10⁻⁷]) seven significant ( GINS2, SENP3, USP7, TUSC3, MAFA, METTL4, NDFIP1 [all < 2.50 10⁻⁶]) AMH women. What is known already Three prior GWASs of eight premenopausal women European ancestry (AMH, MCM8, TEX41 , CHECK2, CDCA7 EIF4EBP1, BMP4 an uncharacterized non-coding RNA gene CTB-99A3.1 ), among which the MCM8 locus was shared all three studies. design, size, duration included sample 1,185 from two independently recruited samples: family n 212; [age: 18 to 40 years]) 2002–03 Samoa American Samoa; Soifua Manuia 973; age: 25 51 years), crosssectional population-based 2010 Samoa. Participants/materials, setting, methods Serum were measured using enzyme linked immunosorbent assays (ELISA). performed participant samples Cox mixed-effects model account for below detectable limits adjusted centered age, age², polity, kinship via matrix. The summary statistics then meta-analyzed fixed-effect model. annotated variants 1 10⁻⁵ calculated posterior probability causality prioritization. further FUMA colocalization analysis. also assessed whether any previously reported replicated our GWAS. Main results role chance novel 10⁻⁵) locus, lead variant high linkage disequilibrium r ² 0.79) age-at-menopause 19-950694-G-A. Nearby KISS1R biologically plausibility causal region; kisspeptin regulates ovarian follicle development has been levels. Further investigation warranted. Limitations, reasons caution main limitations are small size GWAS use transcription trained on mostly Genotype Tissue Expression (GTEx) project, may have led reduced power detect genotype-expression associations. Our findings need be validated larger Polynesian cohorts. Wider implications In addition replicating one discovered loci, we new It that inclusion founder populations aids discovery loci. These could enhance understanding AMH-related reproductive phenotypes (ovarian reserve, age at menopause, premature failure, polycystic ovary syndrome) build screening approach risk these genetically predicted funding/competing interest(s) This work funded by NIH grants R01-HL093093 (PI: S.T.M.), R01-HL133040 R.L.M.), T90-DE030853 C.S. Sfeir). Molecular data Trans-Omics Precision Medicine (TOPMed) Program supported National Heart, Lung Blood Institute (NHLBI). content solely responsibility authors does not represent official views Institutes Health.

Language: Английский

Citations

0