Asian-specific 3'UTR variant in CDKN2B associated with risk of pituitary adenoma.

Autor: Youn, Byeong Ju, Cheong, Hyun Sub, Namgoong, Suhg, Kim, Lyoung Hyo, Baek, In Ki, Kim, Jeong-Hyun, Yoon, Seon-Jin, Kim, Eui Hyun, Kim, Se Hoon, Chang, Jong Hee, Kim, Sun Ho, Shin, Hyoung Doo
Zdroj: Molecular Biology Reports; Nov2022, Vol. 49 Issue 11, p10339-10346, 8p
Abstrakt: Background: Previous genomewide association studies (GWASs), single nucleotide polymorphisms (SNPs) on cyclin-dependent kinase inhibitor 2 A (CDKN2A), cyclin-dependent kinase inhibitor 2B (CDKN2B), and cyclin-dependent kinase inhibitor 2B antisense RNA1 (CDKN2B-AS1) were reported as risk loci for glioma, a subgroup of the brain tumor. To further characterize this association with the risk of brain tumors in a Korean population, we performed a fine-mapping association study of CDKN2A, CDKN2B, and CDKN2B-AS1. Methods and Results: A total of 17 SNPs were selected and genotyped in 1,439 subjects which were comprised of 959 patients (pituitary adenoma 335; glioma 324; meningioma 300) and 480 population controls (PCs). We discovered that a 3'untranslated region (3'UTR) variant, rs181031884 of CDKN2B (Asian-specific variant), had significant association with the risk of pituitary adenoma (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. Conclusions: Although further studies are needed to verify the impact of this variant on PA susceptibility, our results may help to understand CDKN2B polymorphism and the risk of PA. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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