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J Neurooncol. 2019 Apr;142(2):223-229. doi: 10.1007/s11060-018-03082-y. Epub 2019 Mar 13.

A PHLDB1 variant associated with the nonfunctional pituitary adenoma.

Author information

1
Department of Genetic Epidemiology, SNP Genetics Inc., Seoul, 04107, Republic of Korea.
2
Asan Institute for Life Sciences, University of Ulsan Collage of Medicine, Seoul, 05505, Republic of Korea.
3
Department of Life Science, Sogang University, 35 Baekbeom-ro, Mapo-gu, Seoul, 04107, Republic of Korea.
4
Department of Neurosurgery, Pituitary Tumor Center, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea.
5
Department of Biochemistry and Molecular Biology, College of Medicine, Yonsei University, Seoul, 03722, Republic of Korea.
6
Department of Pathology, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea.
7
Department of Neurosurgery, Pituitary Tumor Center, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea. sunkim@yuhs.ac.
8
Department of Genetic Epidemiology, SNP Genetics Inc., Seoul, 04107, Republic of Korea. hdshin@sogang.ac.kr.
9
Department of Life Science, Sogang University, 35 Baekbeom-ro, Mapo-gu, Seoul, 04107, Republic of Korea. hdshin@sogang.ac.kr.

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.

KEYWORDS:

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

PMID:
30868356
DOI:
10.1007/s11060-018-03082-y

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