====== CDKN2B ======

This [[gene]] lies adjacent to the tumor suppressor gene [[CDKN2A]] in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with [[CDK4]] or [[CDK6]], and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. This gene's expression was dramatically induced by TGF beta, which suggested its role in the TGF beta-induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported.
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A total of 17 [[single nucleotide polymorphism]]s were selected and genotyped in 1,439 subjects which were comprised of 959 patients (pituitary neuroendocrine tumor 335; glioma 324; meningioma 300) and 480 population controls (PCs). Youn et al. discovered that a 3'untranslated region (3'UTR) variant, rs181031884 of CDKN2B (Asian-specific variant), had significant association with the risk of pituitary neuroendocrine tumor (PA) (Odds ratio = 0.58, P = 0.00003). Also, rs181031884 appeared as an independent causal variant among the significant variants in CDKN2A and CDKN2B, and showed dose-dependent effects on PA.

Although further studies are needed to verify the impact of this variant on [[pituitary neuroendocrine tumor]] susceptibility, the results may help to understand [[CDKN2B]] polymorphism and the risk of [[pituitary neuroendocrine tumor]]
((Youn BJ, Cheong HS, Namgoong S, Kim LH, Baek IK, Kim JH, Yoon SJ, Kim EH, Kim SH, Chang JH, Kim SH, Shin HD. Asian-specific 3'UTR variant in CDKN2B associated with risk of pituitary neuroendocrine tumor. Mol Biol Rep. 2022 Sep 12. doi: 10.1007/s11033-022-07796-1. Epub ahead of print. PMID: 36097105.)).