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A PHLDB1 variant associated with the nonfunctional pituitary adenoma

Authors
 Lyoung Hyo Kim  ;  Jeong-Hyun Kim  ;  Suhg Namgoong  ;  Hyun Sub Cheong  ;  Seon-Jin Yoon  ;  Eui Hyun Kim  ;  Se Hoon Kim  ;  Sun Ho Kim  ;  Jong Hee Chang  ;  Hyoung Doo Shin 
Citation
 JOURNAL OF NEURO-ONCOLOGY, Vol.142(2) : 223-229, 2019 
Journal Title
 JOURNAL OF NEURO-ONCOLOGY 
ISSN
 0167-594X 
Issue Date
2019
Keywords
Nonfunctional pituitary adenoma (NFPA) ; PHLDB1 ; Single nucleotide polymorphism (SNP)
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.
Full Text
https://link.springer.com/article/10.1007%2Fs11060-018-03082-y
DOI
10.1007/s11060-018-03082-y
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurosurgery (신경외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Sun Ho(김선호) ORCID logo https://orcid.org/0000-0003-0970-3848
Kim, Se Hoon(김세훈) ORCID logo https://orcid.org/0000-0001-7516-7372
Kim, Eui Hyun(김의현) ORCID logo https://orcid.org/0000-0002-2523-7122
Chang, Jong Hee(장종희)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/169980
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