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

Autor: Youn BJ; Department of Life Science, Sogang University, 04107, Seoul, Republic of Korea.; Forensic DNA Division, National Forensic Service, 26460, Wonju, Republic of Korea., Cheong HS; Department of Genetic Epidemiology, SNP Genetics Inc, Seoul, Republic of Korea., Namgoong S; Department of Genetic Epidemiology, SNP Genetics Inc, Seoul, Republic of Korea., Kim LH; Department of Genetic Epidemiology, SNP Genetics Inc, Seoul, Republic of Korea., Baek IK; Department of Life Science, Sogang University, 04107, Seoul, Republic of Korea., Kim JH; Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Republic of Korea., Yoon SJ; Department of Neurosurgery, Yonsei University College of Medicine, Seoul, Republic of Korea.; Department of Biochemistry and Molecular Biology, Yonsei University College of Medicine, Seoul, Republic of Korea., Kim EH; Department of Neurosurgery, Yonsei University College of Medicine, Seoul, Republic of Korea. EUIHYUNKIM@yuhs.ac., Kim SH; Department of Pathology, Yonsei University College of Medicine, Seoul, Republic of Korea., Chang JH; Department of Neurosurgery, Yonsei University College of Medicine, Seoul, Republic of Korea., Kim SH; Department of Neurosurgery, Yonsei University College of Medicine, Seoul, Republic of Korea., Shin HD; Department of Life Science, Sogang University, 04107, Seoul, Republic of Korea. hdshin@sogang.ac.kr.; Department of Genetic Epidemiology, SNP Genetics Inc, Seoul, Republic of Korea. hdshin@sogang.ac.kr.; Research Institute for Basic Science, Sogang University, Seoul, Republic of Korea. hdshin@sogang.ac.kr.
Jazyk: angličtina
Zdroj: Molecular biology reports [Mol Biol Rep] 2022 Nov; Vol. 49 (11), pp. 10339-10346. Date of Electronic Publication: 2022 Sep 12.
DOI: 10.1007/s11033-022-07796-1
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.
(© 2022. The Author(s), under exclusive licence to Springer Nature B.V.)
Databáze: MEDLINE
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