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01-04-2019 | Pituitary Adenoma | Laboratory Investigation

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

Published in: Journal of Neuro-Oncology | Issue 2/2019

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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Title: 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
Publication date: 01-04-2019
Publisher: Springer US
Keyword: Pituitary Adenoma
Published in: Journal of Neuro-Oncology / Issue 2/2019
Print ISSN: 0167-594X
Electronic ISSN: 1573-7373
DOI: https://doi.org/10.1007/s11060-018-03082-y

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

A PHLDB1 variant associated with the nonfunctional pituitary adenoma

Abstract

Purpose

Methods

Results

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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