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

Byeong Ju Youn, Hyun Sub Cheong, Suhg Namgoong, Lyoung Hyo Kim, In Ki Baek, Jeong Hyun Kim, Seon Jin Yoon, Eui Hyun Kim, Se Hoon Kim, Jong Hee Chang, Sun Ho Kim, Hyoung Doo Shin

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)10339-10346
Number of pages8
JournalMolecular Biology Reports
Issue number11
Publication statusPublished - 2022 Nov

Bibliographical note

Funding Information:
We appreciate contributors, including the Brain Tumor Center of Yonsei Severance Hospital staff members who collected samples used in this study, as well as patients and their families.

Publisher Copyright:
© 2022, The Author(s), under exclusive licence to Springer Nature B.V.

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics


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