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A PHLDB1 variant associated with the nonfunctional pituitary adenoma

  • Laboratory Investigation
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Journal of Neuro-Oncology Aims and scope Submit manuscript

Abstract

Purpose

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.

Methods

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.

Results

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.

Conclusions

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.

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Funding

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

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Authors and Affiliations

  1. Department of Genetic Epidemiology, SNP Genetics Inc., Seoul, 04107, Republic of Korea

    Lyoung Hyo Kim, Suhg Namgoong, Hyun Sub Cheong & Hyoung Doo Shin

  2. Asan Institute for Life Sciences, University of Ulsan Collage of Medicine, Seoul, 05505, Republic of Korea

    Jeong-Hyun Kim

  3. Department of Life Science, Sogang University, 35 Baekbeom-ro, Mapo-gu, Seoul, 04107, Republic of Korea

    Suhg Namgoong & Hyoung Doo Shin

  4. Department of Neurosurgery, Pituitary Tumor Center, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea

    Seon-Jin Yoon, Eui Hyun Kim, Sun Ho Kim & Jong Hee Chang

  5. Department of Biochemistry and Molecular Biology, College of Medicine, Yonsei University, Seoul, 03722, Republic of Korea

    Seon-Jin Yoon

  6. Department of Pathology, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea

    Se Hoon Kim

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  1. Lyoung Hyo Kim
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Correspondence to Sun Ho Kim or Hyoung Doo Shin.

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All authors declare that they have no conflict of interest.

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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.

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

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Kim, L.H., Kim, JH., Namgoong, S. et al. A PHLDB1 variant associated with the nonfunctional pituitary adenoma. J Neurooncol 142, 223–229 (2019). https://doi.org/10.1007/s11060-018-03082-y

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  • DOI: https://doi.org/10.1007/s11060-018-03082-y

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