Journal of Neuro-Oncology

, Volume 142, Issue 2, pp 223–229 | Cite as

A PHLDB1 variant associated with the nonfunctional pituitary adenoma

  • Lyoung Hyo Kim
  • Jeong-Hyun Kim
  • Suhg Namgoong
  • Hyun Sub Cheong
  • Seon-Jin Yoon
  • Eui Hyun Kim
  • Se Hoon Kim
  • Sun Ho KimEmail author
  • Jong Hee Chang
  • Hyoung Doo ShinEmail author
Laboratory Investigation



Previous studies have revealed that PHLDB1 single-nucleotide polymorphisms (SNPs) are associated with glioma risk. Nonetheless, the association between PHLDB1 SNPs and the risk of pituitary adenoma has not been studied. The present study evaluated the association of PHLDB1 SNPs with the risk of pituitary adenomas.


We genotyped 27 PHLDB1 tagging and exon SNPs in a case–control study that included 148 patients who got a diagnosis of nonfunctional pituitary adenoma (NFPA) and 375 normal controls within the Korean population. Statistical analyses of the association between PHLDB1 SNPs and the NFPA risk were conducted using logistic regression.


We detected an association between a PHLDB1 SNP and the risk of NFPA in the Korean population. Rs67307131 in intron 2 was significantly associated with NFPA (odds ratio [OR] = 2.15, 95% confidence interval [CI] 1.44–3.20; P = 0.0002 in the dominant model). In the referent analysis, a higher OR and stronger association (lower P value) were observed among patients with the “C/T” genotype (OR = 2.39, 95% CI 1.60–3.58; P = 0.00002). In a functional analysis with a SNP annotation tool, this SNP was predicted to be a CpG site and copy number variant; these properties are associated with susceptibility to diseases.


Our findings suggest that genetic variation of PHLDB1 may be associated with the risk of NFPA. This is the first report of an association between PHLDB1 variants and NFPA. Further research is needed to confirm the impact of this SNP on NFPA susceptibility.


PHLDB1 Nonfunctional pituitary adenoma (NFPA) Single nucleotide polymorphism (SNP) 



This study was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (2017035989).

Compliance with ethical standards

Conflict of interest

All authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Supplementary material

11060_2018_3082_MOESM1_ESM.docx (248 kb)
Supplementary material 1 (DOCX 247 KB)


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Genetic EpidemiologySNP Genetics Inc.SeoulRepublic of Korea
  2. 2.Asan Institute for Life SciencesUniversity of Ulsan Collage of MedicineSeoulRepublic of Korea
  3. 3.Department of Life ScienceSogang UniversitySeoulRepublic of Korea
  4. 4.Department of Neurosurgery, Pituitary Tumor CenterYonsei University College of MedicineSeoulRepublic of Korea
  5. 5.Department of Biochemistry and Molecular Biology, College of MedicineYonsei UniversitySeoulRepublic of Korea
  6. 6.Department of PathologyYonsei University College of MedicineSeoulRepublic of Korea

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