Genetic testing and molecular biomarkers

Purpose: This study aimed to reveal the molecular differences in granulosa cells (GCs) from patients with endometriosis (EM). Methods: RNA sequencing was performed on GCs from patients with EM-related infertility (n = 3) and controls (n = 3…

OBJECTIVES: Somatic mutations in mediator complex subunit 12 (MED12) have emerged as a critical genetic change in the development of uterine leiomyomas. Studies, however, have focused largely on cohorts consisting of Caucasian patients. In …

AIM: We have hypothesized a possible relationship between disc degeneration (DD) and VDR FokI/T2C polymorphism. METHODS: A case-control study was performed comprising 121 Brazilian patients with confirmed DD by nuclear magnetic resonance a…

AIMS: The aim of the present study was to assess the role of the vascular endothelial growth factor (VEGF) -2549 insertion/deletion (I/D) polymorphism in susceptibility to sporadic breast cancer. METHODS: DNA samples of 94 breast cancer pa…

AIMS: Estrogen-dependent hyperplasia of myo- and endometrium manifests as uterine leiomyoma or adenomyosis. We studied possible associations between common polymorphisms of matrix metalloproteinase (MMP) genes and clinical features of uteri…

AIM: To investigate the role of loss of heterozygosity (LOH), single nucleotide polymorphisms (SNPs), and the expression of gene p53 in the pathogenesis of endometriosis. METHODS: LOH at the p53 gene locus (17p13.1) was examined in matched…

AIMS: The aim of this study was to evaluate urokinase-type plasminogen activator gene (uPA) and thrombin-activatable fibrinolysis inhibitor gene (TAFI) genotypes in a group of infertile women with and/or without endometriosis and controls. …

BACKGROUND: Endometriosis is a distressing gynecological disorder. Toll-like receptor 4 (TLR4) is specific for recognition of the molecular pattern of gram-negative bacteria. TLR4 is present on the surface of endometrial cells. Their role i…