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Updated: Feb 7, 2026
07:12
A Syngeneic Murine Model of Endometriosis using Naturally Cycling Mice
Published on: November 24, 2020
6.1K
New candidate genes associated to endometriosis
Denise Maria Christofolini1,2, Fernanda Abani Mafra3, Michelle Cristina Catto2
1a Instituto Ideia Fértil de Saúde Reprodutiva , Santo André , Brazil.
Summary
This study confirms that specific genetic variations in KAZN and LAMA5 are associated with endometriosis-related infertility in Brazilian women. These findings help identify new genetic factors contributing to endometriosis pathogenesis.
Area of Science:
- Genetics
- Reproductive Medicine
- Molecular Biology
Background:
- Genome-Wide Association Studies (GWAS) previously identified single nucleotide polymorphisms (SNPs) with differential frequencies in Brazilian endometriosis patients.
- Some identified SNPs were located in genes with functions potentially linked to endometriosis pathogenesis.
Purpose of the Study:
- To validate GWAS findings by examining a larger cohort of infertile women with endometriosis and fertile controls.
- To investigate the association of specific SNPs with endometriosis pathogenesis and infertility.
Main Methods:
- A genetic association study was conducted with 394 infertile women with endometriosis and 650 fertile controls.
- TaqMan allelic discrimination assays were used to genotype three SNPs: KAZN (rs10928050), LAMA5 (rs2427284), and TAC3 (rs733629).
Main Results:
- A significant association was found between KAZN rs10928050 and endometriosis-related infertility (p=0.015).
- A significant association was also observed for LAMA5 rs2427284 with endometriosis-related infertility (p=0.0059).
- No significant difference was detected for TAC3 rs733629 between cases and controls.
Conclusions:
- Individual genotyping in a larger sample confirmed the association of KAZN and LAMA5 SNPs with endometriosis-related infertility.
- These findings identify KAZN and LAMA5 as candidate genes contributing to endometriosis pathogenesis and infertility.
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