Genetic Characterization of Endometriosis Patients: Review of the Literature and a Prospective Cohort Study on a Mediterranean Population

International Journal of Molecular Sciences
Stefano AngioniDanilo Deiana

Abstract

The pathogenesis of endometriosis is unknown, but some evidence supports a genetic predisposition. The purpose of this study was to evaluate the recent literature on the genetic characterization of women affected by endometriosis and to evaluate the influence of polymorphisms of the wingless-type mammalian mouse tumour virus integration site family member 4 (WNT4), vezatin (VEZT), and follicle stimulating hormone beta polypeptide (FSHB) genes, already known to be involved in molecular mechanisms associated with the proliferation and development of endometriotic lesions in the Sardinian population. Materials and Methods: In order to provide a comprehensive and systematic tool for those approaching the genetics of endometriosis, the most cited review, observational, cohort and case-control studies that have evaluated the genetics of endometriosis in the last 20 years were collected. Moreover, 72 women were recruited for a molecular biology analysis of whole-blood samples-41 patients affected by symptomatic endometriosis and 31 controls. The molecular typing of three single nucleotide polymorphisms (SNPs) was evaluated in patients and controls: rs7521902, rs10859871 and rs11031006, mapped respectively in the WNT4, VEZT and FSHB ge...Continue Reading

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Citations

May 1, 2020·Diagnostics·Enrica MarchionniAntonio Pizzuti
Feb 4, 2021·Experimental and Molecular Pathology·Jéssica Vilarinho CardosoJamila Alessandra Perini
Apr 15, 2021·Minerva Obstetrics and Gynecology·Maurizio N D'AlterioStefano Angioni
May 20, 2021·Minerva Obstetrics and Gynecology·Maurizio N D'AlterioStefano Angioni
Jul 25, 2021·International Journal of Molecular Sciences·Imane LalamiDaniel Vaiman
Aug 28, 2021·Archives of Gynecology and Obstetrics·Stefano AngioniMaurizio Nicola D'Alterio

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Methods Mentioned

BETA
co-immunoprecipitation
blood drawn
X-ray
IEC
exon sequencing
genotyping
chip
histone acetylation
acetylation
PCR

Clinical Trials Mentioned

NCT02388854

Software Mentioned

GraphPad Prism
Plink
SeqScapev3
SPSS Statistics

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