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 Kim, Jong Hee Chang, Hyoung Doo Shin

Research output: Contribution to journalArticle

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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.

Original languageEnglish
JournalJournal of Neuro-Oncology
DOIs
Publication statusPublished - 2019 Jan 1

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Pituitary Neoplasms
Single Nucleotide Polymorphism
Odds Ratio
Confidence Intervals
Disease Susceptibility
Glioma
Introns
Population
Exons
Logistic Models
Genotype
Research

All Science Journal Classification (ASJC) codes

  • Oncology
  • Neurology
  • Clinical Neurology
  • Cancer Research

Cite this

Kim, L. H., Kim, J. H., Namgoong, S., Cheong, H. S., Yoon, S. J., Kim, E. H., ... Shin, H. D. (2019). A PHLDB1 variant associated with the nonfunctional pituitary adenoma. Journal of Neuro-Oncology. https://doi.org/10.1007/s11060-018-03082-y
Kim, Lyoung Hyo ; Kim, Jeong Hyun ; Namgoong, Suhg ; Cheong, Hyun Sub ; Yoon, Seon Jin ; Kim, Eui Hyun ; Kim, Se Hoon ; Kim, Sun Ho ; Chang, Jong Hee ; Shin, Hyoung Doo. / A PHLDB1 variant associated with the nonfunctional pituitary adenoma. In: Journal of Neuro-Oncology. 2019.
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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.",
author = "Kim, {Lyoung Hyo} and Kim, {Jeong Hyun} and Suhg Namgoong and Cheong, {Hyun Sub} and Yoon, {Seon Jin} and Kim, {Eui Hyun} and Kim, {Se Hoon} and Kim, {Sun Ho} and Chang, {Jong Hee} and Shin, {Hyoung Doo}",
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Kim, LH, Kim, JH, Namgoong, S, Cheong, HS, Yoon, SJ, Kim, EH, Kim, SH, Kim, SH, Chang, JH & Shin, HD 2019, 'A PHLDB1 variant associated with the nonfunctional pituitary adenoma', Journal of Neuro-Oncology. https://doi.org/10.1007/s11060-018-03082-y

A PHLDB1 variant associated with the nonfunctional pituitary adenoma. / Kim, Lyoung Hyo; Kim, Jeong Hyun; Namgoong, Suhg; Cheong, Hyun Sub; Yoon, Seon Jin; Kim, Eui Hyun; Kim, Se Hoon; Kim, Sun Ho; Chang, Jong Hee; Shin, Hyoung Doo.

In: Journal of Neuro-Oncology, 01.01.2019.

Research output: Contribution to journalArticle

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T1 - A PHLDB1 variant associated with the nonfunctional pituitary adenoma

AU - Kim, Lyoung Hyo

AU - Kim, Jeong Hyun

AU - Namgoong, Suhg

AU - Cheong, Hyun Sub

AU - Yoon, Seon Jin

AU - Kim, Eui Hyun

AU - Kim, Se Hoon

AU - Kim, Sun Ho

AU - Chang, Jong Hee

AU - Shin, Hyoung Doo

PY - 2019/1/1

Y1 - 2019/1/1

N2 - 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.

AB - 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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