China
Africa
Explore chapters and articles related to this topic
Molecular basis and biomarkers of disease activity
Published in Seema Chopra, Endometriosis, 2020
GWAS has shown a positive association of endometriosis with the SNP rs1096523, which is located in the cyclin-dependent kinase inhibitor 2B antisense RNA (CDKN2BAS) gene on chromosome 9p21. CDKN2BAS regulates the expression of CDKN2A, which controls proliferation of endometrium and is implicated in etiopathogenesis of endometriosis [44]. Additionally, a similar association has been observed with rs16826658m in the linkage disequilibrium block which also includes the gene WNT4 on chromosome 1p36 [44]. WNT4 signaling plays a role in the development of ovarian follicles, fallopian tubes, and the uterus from the Müllerian ducts. An association of endometriosis has also been found with the locus 9p21 that is also associated with other diseases, including malignant melanoma, basal cell carcinoma, coronary artery disease, type 2 diabetes, glioma, and nevi [42]. A few other loci that have been linked to increased susceptibility for endometriosis include 7p15.2 (a region between NFE2L3 and HOXA10) and 10q26. However, the clinical significance of these genetic variants in predicting the risk of the disease is still unclear. Recently, some researchers have demonstrated an increased prevalence of an inherited polymorphism of a let-7 miRNA-binding site in the KRAS gene in patients with endometriosis as the first described genetic marker for endometriosis risk and also a potential therapeutic target [45].
Recent advances in the understanding of urothelial tumorigenesis
Published in Expert Review of Anticancer Therapy, 2023
Masato Yasui, Liam Cui, Hiroshi Miyamoto
NFE2L3 (also known as NRF3) is a member of the Cap ‘n’ collar basic leucine zipper family, while the role of other members, including NRF1 and NRF2, in tumorigenesis of several types of malignancy have been investigated [19]. NFE2L3 expression was shown to be elevated in bladder cancer cell lines or tissues, compared with SVHUC cells or adjacent non-neoplastic bladder tissues, respectively [20]. High NFE2L3 expression was also associated with significantly lower survival rates in two publicly available datasets. NFE2L3 knockdown in bladder cancer lines resulted in induction of cell cycle arrest and apoptosis. A comprehensive proteomics analysis further revealed up- or down-regulation of the genes involving cell cycle, cell-matrix adhesion, and response to oxidative process. Although the impact of NFE2L3 on urothelial tumorigenesis has thus not been directly assessed, it may contribute to the development of bladder cancer.