Your browser doesn't support javascript.
loading
Integrated data driven analysis identifies potential candidate genes associated with PCOS.
Joseph, Shaini; Patil, Krutika; Rahate, Niharika; Shah, Jatin; Mukherjee, Srabani; Mahale, Smita D.
Afiliación
  • Joseph S; Genetic Research Center, ICMR-National Institute for Research in Reproductive and Child Health, J.M. Street, Parel, Mumbai 400012, India.
  • Patil K; Department of Molecular Endocrinology, ICMR-National Institute for Research in Reproductive and Child Health, J.M. Street, Parel, Mumbai 400012, India.
  • Rahate N; Genetic Research Center, ICMR-National Institute for Research in Reproductive and Child Health, J.M. Street, Parel, Mumbai 400012, India.
  • Shah J; Mumbai Fertility Clinic & IVF Centre, Kamala Polyclinic and Nursing Home, Mumbai 400026, India.
  • Mukherjee S; Department of Molecular Endocrinology, ICMR-National Institute for Research in Reproductive and Child Health, J.M. Street, Parel, Mumbai 400012, India. Electronic address: mukherjees@nirrch.res.in.
  • Mahale SD; ICMR-National Institute for Research in Reproductive and Child Health, J.M. Street, Parel, Mumbai 400012, India. Electronic address: mahales@nirrch.res.in.
Comput Biol Chem ; 113: 108191, 2024 Aug 30.
Article en En | MEDLINE | ID: mdl-39243549
ABSTRACT
Polycystic ovary syndrome (PCOS) is one of the most common anovulatory disorder observed in women presenting with infertility. Several high and low throughput studies on PCOS have led to accumulation of vast amount of information on PCOS. Despite the availability of several resources which index the advances in PCOS, information on its etiology still remains inadequate. Analysis of the existing information using an integrated evidence based approach may aid identification of novel potential candidate genes with a role in PCOS pathophysiology. This work focuses on integrating existing information on PCOS from literature and gene expression studies and evaluating the application of gene prioritization and network analysis to predict missing novel candidates. Further, it assesses the utility of evidence-based scoring to rank genes for their association with PCOS. The results of this study led to identification of ∼2000 plausible candidate genes associated with PCOS. Insilico validation of these identified candidates confirmed the role of 938 genes in PCOS. Further, experimental validation was carried out for four of the potential candidate genes, a high-scoring (PROS1), two mid-scoring (C1QA and KNG1), and a low-scoring gene (VTN) involved in the complement and coagulation pathway by comparing protein levels in follicular fluid in women with PCOS and healthy controls. While the expression of PROS1, C1QA, and KNG1 was found to be significantly downregulated in women with PCOS, the expression of VTN was found to be unchanged in PCOS. The findings of this study reiterate the utility of employing insilico approaches to identify and prioritize the most promising candidate genes in diseases with a complex pathophysiology like PCOS. Further, the study also helps in gaining clearer insights into the molecular mechanisms associated with the manifestation of the PCOS phenotype by contributing to the existing repertoire of genes associated with PCOS.
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Comput Biol Chem Asunto de la revista: BIOLOGIA / INFORMATICA MEDICA / QUIMICA Año: 2024 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Comput Biol Chem Asunto de la revista: BIOLOGIA / INFORMATICA MEDICA / QUIMICA Año: 2024 Tipo del documento: Article Pais de publicación: Reino Unido