Genetic and expression variations of cell cycle pathway genes in brain tumor patients

Anum Zehra Naqvi; Ishrat Mahjabeen; Saima Ameen; Malik Waqar Ahmed; Asad Ullah Khan; Zertashia Akram; Mahmood Akhtar Kayani

doi:10.1042/BSR20190629

Genetic and expression variations of cell cycle pathway genes in brain tumor patients

Anum Zehra Naqvi, Ishrat Mahjabeen, Saima Ameen, Malik Waqar Ahmed, Asad Ullah Khan, Zertashia Akram, Mahmood Akhtar Kayani

Research output: Contribution to journal › Article › peer-review

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Abstract

The present study was designed to determine the association between the genetic polymorphisms/expression variations of RB1 and CCND1 genes and brain tumor risk. For this purpose, 250 blood samples of brain tumor patients along with 250 controls (cohort I) and 96 brain tumor tissues (cohort II) with adjacent control section were collected. Mutation analysis of RB1 (rs137853294, rs121913300) and CCND1 (rs614367, rs498136) genes was performed using ARMS-PCR followed by sequencing, and expression analysis was performed using real-time PCR and immunohistochemistry. The results showed homozygous mutant genotype of RB1 gene polymorphism, rs121913300 (P=0.003) and CCND1 gene polymorphism rs614367 (P=0.01) were associated significantly with brain tumor risk. Moreover, significant down-regulation of RB1 (P=0.005) and up-regulation of CCND1 (P=0.0001) gene was observed in brain tumor sections vs controls. Spearman correlation showed significant negative correlation between RB1 vs proliferation marker, Ki-67 (r = −0.291*, P<0.05) in brain tumors. Expression levels of selected genes were also assessed at protein level using immunohistochemical analysis (IHC) and signification down-regulation of RB1 (P=0.0001) and up-regulation of CCND1 (P=0.0001) was observed in brain tumor compared with control sections. In conclusion, it is suggested that polymorphisms/expression variations of RB1 and CCND1 genes may be associated with increased risk of brain tumor.

Original language	English (US)
Article number	BSR20190629
Journal	Bioscience Reports
Volume	40
Issue number	5
DOIs	https://doi.org/10.1042/BSR20190629
State	Published - May 2020
Externally published	Yes

Bibliographical note

Funding Information:
The authors declare that there are no sources of funding to be acknowledged. Authors acknowledge infrastructural help from Higher Education Commission of Pakistan (HEC) and COMSATS University, Islamabad. Authors are thankful to patients and staff of Pathology Department, PIMS, Islamabad, and for contribution to this research.

Publisher Copyright:
© 2020 The Author(s).

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title = "Genetic and expression variations of cell cycle pathway genes in brain tumor patients",

abstract = "The present study was designed to determine the association between the genetic polymorphisms/expression variations of RB1 and CCND1 genes and brain tumor risk. For this purpose, 250 blood samples of brain tumor patients along with 250 controls (cohort I) and 96 brain tumor tissues (cohort II) with adjacent control section were collected. Mutation analysis of RB1 (rs137853294, rs121913300) and CCND1 (rs614367, rs498136) genes was performed using ARMS-PCR followed by sequencing, and expression analysis was performed using real-time PCR and immunohistochemistry. The results showed homozygous mutant genotype of RB1 gene polymorphism, rs121913300 (P=0.003) and CCND1 gene polymorphism rs614367 (P=0.01) were associated significantly with brain tumor risk. Moreover, significant down-regulation of RB1 (P=0.005) and up-regulation of CCND1 (P=0.0001) gene was observed in brain tumor sections vs controls. Spearman correlation showed significant negative correlation between RB1 vs proliferation marker, Ki-67 (r = −0.291*, P<0.05) in brain tumors. Expression levels of selected genes were also assessed at protein level using immunohistochemical analysis (IHC) and signification down-regulation of RB1 (P=0.0001) and up-regulation of CCND1 (P=0.0001) was observed in brain tumor compared with control sections. In conclusion, it is suggested that polymorphisms/expression variations of RB1 and CCND1 genes may be associated with increased risk of brain tumor.",

author = "Naqvi, {Anum Zehra} and Ishrat Mahjabeen and Saima Ameen and Ahmed, {Malik Waqar} and Khan, {Asad Ullah} and Zertashia Akram and Kayani, {Mahmood Akhtar}",

note = "Funding Information: The authors declare that there are no sources of funding to be acknowledged. Authors acknowledge infrastructural help from Higher Education Commission of Pakistan (HEC) and COMSATS University, Islamabad. Authors are thankful to patients and staff of Pathology Department, PIMS, Islamabad, and for contribution to this research. Publisher Copyright: {\textcopyright} 2020 The Author(s).",

year = "2020",

month = may,

doi = "10.1042/BSR20190629",

language = "English (US)",

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T1 - Genetic and expression variations of cell cycle pathway genes in brain tumor patients

AU - Naqvi, Anum Zehra

AU - Mahjabeen, Ishrat

AU - Ameen, Saima

AU - Ahmed, Malik Waqar

AU - Khan, Asad Ullah

AU - Akram, Zertashia

AU - Kayani, Mahmood Akhtar

N1 - Funding Information: The authors declare that there are no sources of funding to be acknowledged. Authors acknowledge infrastructural help from Higher Education Commission of Pakistan (HEC) and COMSATS University, Islamabad. Authors are thankful to patients and staff of Pathology Department, PIMS, Islamabad, and for contribution to this research. Publisher Copyright: © 2020 The Author(s).

PY - 2020/5

Y1 - 2020/5

N2 - The present study was designed to determine the association between the genetic polymorphisms/expression variations of RB1 and CCND1 genes and brain tumor risk. For this purpose, 250 blood samples of brain tumor patients along with 250 controls (cohort I) and 96 brain tumor tissues (cohort II) with adjacent control section were collected. Mutation analysis of RB1 (rs137853294, rs121913300) and CCND1 (rs614367, rs498136) genes was performed using ARMS-PCR followed by sequencing, and expression analysis was performed using real-time PCR and immunohistochemistry. The results showed homozygous mutant genotype of RB1 gene polymorphism, rs121913300 (P=0.003) and CCND1 gene polymorphism rs614367 (P=0.01) were associated significantly with brain tumor risk. Moreover, significant down-regulation of RB1 (P=0.005) and up-regulation of CCND1 (P=0.0001) gene was observed in brain tumor sections vs controls. Spearman correlation showed significant negative correlation between RB1 vs proliferation marker, Ki-67 (r = −0.291*, P<0.05) in brain tumors. Expression levels of selected genes were also assessed at protein level using immunohistochemical analysis (IHC) and signification down-regulation of RB1 (P=0.0001) and up-regulation of CCND1 (P=0.0001) was observed in brain tumor compared with control sections. In conclusion, it is suggested that polymorphisms/expression variations of RB1 and CCND1 genes may be associated with increased risk of brain tumor.

AB - The present study was designed to determine the association between the genetic polymorphisms/expression variations of RB1 and CCND1 genes and brain tumor risk. For this purpose, 250 blood samples of brain tumor patients along with 250 controls (cohort I) and 96 brain tumor tissues (cohort II) with adjacent control section were collected. Mutation analysis of RB1 (rs137853294, rs121913300) and CCND1 (rs614367, rs498136) genes was performed using ARMS-PCR followed by sequencing, and expression analysis was performed using real-time PCR and immunohistochemistry. The results showed homozygous mutant genotype of RB1 gene polymorphism, rs121913300 (P=0.003) and CCND1 gene polymorphism rs614367 (P=0.01) were associated significantly with brain tumor risk. Moreover, significant down-regulation of RB1 (P=0.005) and up-regulation of CCND1 (P=0.0001) gene was observed in brain tumor sections vs controls. Spearman correlation showed significant negative correlation between RB1 vs proliferation marker, Ki-67 (r = −0.291*, P<0.05) in brain tumors. Expression levels of selected genes were also assessed at protein level using immunohistochemical analysis (IHC) and signification down-regulation of RB1 (P=0.0001) and up-regulation of CCND1 (P=0.0001) was observed in brain tumor compared with control sections. In conclusion, it is suggested that polymorphisms/expression variations of RB1 and CCND1 genes may be associated with increased risk of brain tumor.

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DO - 10.1042/BSR20190629

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SN - 0144-8463

VL - 40

JO - Bioscience Reports

JF - Bioscience Reports

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M1 - BSR20190629

ER -

Genetic and expression variations of cell cycle pathway genes in brain tumor patients

Abstract

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