Genetic variation in p53 and ATM haplotypes and risk of glioma and meningioma

Beatrice Susanne Malmer; Maria Feychting; Stefan Lönn; Sara Lindström; Henrik Grönberg; Anders Ahlbom; Judy Schwartzbaum; Anssi Auvinen; Helle Collatz-Christensen; Christoffer Johansen; Anne Kiuru; Nadejda Mudie; Tiina Salminen; Minouk J Schoemaker; Anthony J Swerdlow; Roger Henriksson

doi:10.1007/s11060-006-9275-1

Genetic variation in p53 and ATM haplotypes and risk of glioma and meningioma

Beatrice Susanne Malmer, Maria Feychting, Stefan Lönn, Sara Lindström, Henrik Grönberg, Anders Ahlbom, Judy Schwartzbaum, Anssi Auvinen, Helle Collatz-Christensen, Christoffer Johansen, Anne Kiuru, Nadejda Mudie, Tiina Salminen, Minouk J Schoemaker, Anthony J Swerdlow, Roger Henriksson

51 Citations (Scopus)

Abstract

BACKGROUND: P53 and ATM are central checkpoint genes involved in the repair of DNA damage after ionising irradiation, which has been associated with risk of brain tumours. Therefore, we tested the hypothesis that polymorphisms and haplotypes in p53 and ATM could be associated with glioma and meningioma risk.

MATERIAL AND METHODS: Six hundred and eighty glioma cases (298 glioblastoma (GBM)), 503 meningioma cases, and 1555 controls recruited in the Nordic-UK Interphone study, were analysed in association with three polymorphisms in p53 (rs2287499, rs1042533, rs1625895) and five polymorphisms in ATM ( rs228599, rs3092992, rs664143, rs170548, rs3092993). Haplotypes were constructed using the HAPLOSTAT program.

RESULTS: The global statistical test of glioblastoma and p53 haplotypes was p = 0.02. The haplotype analysis on glioblastoma revealed the 1-2-2 haplotype (promotor-codon72-intron 6) had a frequency of 6.1% in cases compared with 9.8% in controls (p = 0.003). The 1-2-1 haplotype was significantly more frequent in GBM cases, 10.2%, than in controls, 7.3% (p = 0.02). The haplotype analysis in ATM revealed an increased frequency of the 1-1-1-2-1 haplotype in meningioma cases (33.8%) compared with controls (30.3%) (p = 0.03). The 2-1-2-1-1 haplotype had a lower frequency in meningioma cases (36.1%) than controls (40.7%) (p = 0.009).

CONCLUSIONS: This study found both positive and negative associations of haplotypes in p53 for glioblastoma and ATM for meningioma. This study provides new data that could add to our understanding of brain tumour susceptibility.

Original language	English
Journal	Journal of Neuro-Oncology
Volume	82
Issue number	3
Pages (from-to)	229-37
Number of pages	9
ISSN	0167-594X
DOIs	https://doi.org/10.1007/s11060-006-9275-1
Publication status	Published - May 2007
Externally published	Yes

Keywords

Adult
Aged
Ataxia Telangiectasia Mutated Proteins
Brain Neoplasms/genetics
Case-Control Studies
Cell Cycle Proteins/genetics
DNA-Binding Proteins/genetics
Female
Genetic Predisposition to Disease
Glioma/genetics
Haplotypes
Humans
Male
Meningeal Neoplasms/genetics
Meningioma/genetics
Middle Aged
Polymorphism, Single Nucleotide
Protein Serine-Threonine Kinases/genetics
Risk Factors
Tumor Suppressor Protein p53/genetics
Tumor Suppressor Proteins/genetics

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10.1007/s11060-006-9275-1

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Malmer, B. S., Feychting, M., Lönn, S., Lindström, S., Grönberg, H., Ahlbom, A., Schwartzbaum, J., Auvinen, A., Collatz-Christensen, H., Johansen, C., Kiuru, A., Mudie, N., Salminen, T., Schoemaker, M. J., Swerdlow, A. J., & Henriksson, R. (2007). Genetic variation in p53 and ATM haplotypes and risk of glioma and meningioma. Journal of Neuro-Oncology, 82(3), 229-37. https://doi.org/10.1007/s11060-006-9275-1

Malmer, BS, Feychting, M, Lönn, S, Lindström, S, Grönberg, H, Ahlbom, A, Schwartzbaum, J, Auvinen, A, Collatz-Christensen, H, Johansen, C, Kiuru, A, Mudie, N, Salminen, T, Schoemaker, MJ, Swerdlow, AJ & Henriksson, R 2007, 'Genetic variation in p53 and ATM haplotypes and risk of glioma and meningioma', Journal of Neuro-Oncology, vol. 82, no. 3, pp. 229-37. https://doi.org/10.1007/s11060-006-9275-1

@article{fe13f3c86abf460ab4ff12576ef5e09b,

title = "Genetic variation in p53 and ATM haplotypes and risk of glioma and meningioma",

abstract = "BACKGROUND: P53 and ATM are central checkpoint genes involved in the repair of DNA damage after ionising irradiation, which has been associated with risk of brain tumours. Therefore, we tested the hypothesis that polymorphisms and haplotypes in p53 and ATM could be associated with glioma and meningioma risk.MATERIAL AND METHODS: Six hundred and eighty glioma cases (298 glioblastoma (GBM)), 503 meningioma cases, and 1555 controls recruited in the Nordic-UK Interphone study, were analysed in association with three polymorphisms in p53 (rs2287499, rs1042533, rs1625895) and five polymorphisms in ATM ( rs228599, rs3092992, rs664143, rs170548, rs3092993). Haplotypes were constructed using the HAPLOSTAT program.RESULTS: The global statistical test of glioblastoma and p53 haplotypes was p = 0.02. The haplotype analysis on glioblastoma revealed the 1-2-2 haplotype (promotor-codon72-intron 6) had a frequency of 6.1\% in cases compared with 9.8\% in controls (p = 0.003). The 1-2-1 haplotype was significantly more frequent in GBM cases, 10.2\%, than in controls, 7.3\% (p = 0.02). The haplotype analysis in ATM revealed an increased frequency of the 1-1-1-2-1 haplotype in meningioma cases (33.8\%) compared with controls (30.3\%) (p = 0.03). The 2-1-2-1-1 haplotype had a lower frequency in meningioma cases (36.1\%) than controls (40.7\%) (p = 0.009).CONCLUSIONS: This study found both positive and negative associations of haplotypes in p53 for glioblastoma and ATM for meningioma. This study provides new data that could add to our understanding of brain tumour susceptibility.",

keywords = "Adult, Aged, Ataxia Telangiectasia Mutated Proteins, Brain Neoplasms/genetics, Case-Control Studies, Cell Cycle Proteins/genetics, DNA-Binding Proteins/genetics, Female, Genetic Predisposition to Disease, Glioma/genetics, Haplotypes, Humans, Male, Meningeal Neoplasms/genetics, Meningioma/genetics, Middle Aged, Polymorphism, Single Nucleotide, Protein Serine-Threonine Kinases/genetics, Risk Factors, Tumor Suppressor Protein p53/genetics, Tumor Suppressor Proteins/genetics",

author = "Malmer, \{Beatrice Susanne\} and Maria Feychting and Stefan L{\"o}nn and Sara Lindstr{\"o}m and Henrik Gr{\"o}nberg and Anders Ahlbom and Judy Schwartzbaum and Anssi Auvinen and Helle Collatz-Christensen and Christoffer Johansen and Anne Kiuru and Nadejda Mudie and Tiina Salminen and Schoemaker, \{Minouk J\} and Swerdlow, \{Anthony J\} and Roger Henriksson",

year = "2007",

month = may,

doi = "10.1007/s11060-006-9275-1",

language = "English",

volume = "82",

pages = "229--37",

journal = "Journal of Neuro-Oncology",

issn = "0167-594X",

publisher = "Springer",

number = "3",

}

TY - JOUR

T1 - Genetic variation in p53 and ATM haplotypes and risk of glioma and meningioma

AU - Malmer, Beatrice Susanne

AU - Feychting, Maria

AU - Lönn, Stefan

AU - Lindström, Sara

AU - Grönberg, Henrik

AU - Ahlbom, Anders

AU - Schwartzbaum, Judy

AU - Auvinen, Anssi

AU - Collatz-Christensen, Helle

AU - Johansen, Christoffer

AU - Kiuru, Anne

AU - Mudie, Nadejda

AU - Salminen, Tiina

AU - Schoemaker, Minouk J

AU - Swerdlow, Anthony J

AU - Henriksson, Roger

PY - 2007/5

Y1 - 2007/5

N2 - BACKGROUND: P53 and ATM are central checkpoint genes involved in the repair of DNA damage after ionising irradiation, which has been associated with risk of brain tumours. Therefore, we tested the hypothesis that polymorphisms and haplotypes in p53 and ATM could be associated with glioma and meningioma risk.MATERIAL AND METHODS: Six hundred and eighty glioma cases (298 glioblastoma (GBM)), 503 meningioma cases, and 1555 controls recruited in the Nordic-UK Interphone study, were analysed in association with three polymorphisms in p53 (rs2287499, rs1042533, rs1625895) and five polymorphisms in ATM ( rs228599, rs3092992, rs664143, rs170548, rs3092993). Haplotypes were constructed using the HAPLOSTAT program.RESULTS: The global statistical test of glioblastoma and p53 haplotypes was p = 0.02. The haplotype analysis on glioblastoma revealed the 1-2-2 haplotype (promotor-codon72-intron 6) had a frequency of 6.1% in cases compared with 9.8% in controls (p = 0.003). The 1-2-1 haplotype was significantly more frequent in GBM cases, 10.2%, than in controls, 7.3% (p = 0.02). The haplotype analysis in ATM revealed an increased frequency of the 1-1-1-2-1 haplotype in meningioma cases (33.8%) compared with controls (30.3%) (p = 0.03). The 2-1-2-1-1 haplotype had a lower frequency in meningioma cases (36.1%) than controls (40.7%) (p = 0.009).CONCLUSIONS: This study found both positive and negative associations of haplotypes in p53 for glioblastoma and ATM for meningioma. This study provides new data that could add to our understanding of brain tumour susceptibility.

AB - BACKGROUND: P53 and ATM are central checkpoint genes involved in the repair of DNA damage after ionising irradiation, which has been associated with risk of brain tumours. Therefore, we tested the hypothesis that polymorphisms and haplotypes in p53 and ATM could be associated with glioma and meningioma risk.MATERIAL AND METHODS: Six hundred and eighty glioma cases (298 glioblastoma (GBM)), 503 meningioma cases, and 1555 controls recruited in the Nordic-UK Interphone study, were analysed in association with three polymorphisms in p53 (rs2287499, rs1042533, rs1625895) and five polymorphisms in ATM ( rs228599, rs3092992, rs664143, rs170548, rs3092993). Haplotypes were constructed using the HAPLOSTAT program.RESULTS: The global statistical test of glioblastoma and p53 haplotypes was p = 0.02. The haplotype analysis on glioblastoma revealed the 1-2-2 haplotype (promotor-codon72-intron 6) had a frequency of 6.1% in cases compared with 9.8% in controls (p = 0.003). The 1-2-1 haplotype was significantly more frequent in GBM cases, 10.2%, than in controls, 7.3% (p = 0.02). The haplotype analysis in ATM revealed an increased frequency of the 1-1-1-2-1 haplotype in meningioma cases (33.8%) compared with controls (30.3%) (p = 0.03). The 2-1-2-1-1 haplotype had a lower frequency in meningioma cases (36.1%) than controls (40.7%) (p = 0.009).CONCLUSIONS: This study found both positive and negative associations of haplotypes in p53 for glioblastoma and ATM for meningioma. This study provides new data that could add to our understanding of brain tumour susceptibility.

KW - Adult

KW - Aged

KW - Ataxia Telangiectasia Mutated Proteins

KW - Brain Neoplasms/genetics

KW - Case-Control Studies

KW - Cell Cycle Proteins/genetics

KW - DNA-Binding Proteins/genetics

KW - Female

KW - Genetic Predisposition to Disease

KW - Glioma/genetics

KW - Haplotypes

KW - Humans

KW - Male

KW - Meningeal Neoplasms/genetics

KW - Meningioma/genetics

KW - Middle Aged

KW - Polymorphism, Single Nucleotide

KW - Protein Serine-Threonine Kinases/genetics

KW - Risk Factors

KW - Tumor Suppressor Protein p53/genetics

KW - Tumor Suppressor Proteins/genetics

UR - https://www.scopus.com/pages/publications/34247252390

U2 - 10.1007/s11060-006-9275-1

DO - 10.1007/s11060-006-9275-1

M3 - Journal article

C2 - 17151932

SN - 0167-594X

VL - 82

SP - 229

EP - 237

JO - Journal of Neuro-Oncology

JF - Journal of Neuro-Oncology

IS - 3

ER -

Genetic variation in p53 and ATM haplotypes and risk of glioma and meningioma

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