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Association of MTHFR, MTRR and RAD54L Gene Variations with Meningioma and Correlation with Tumor's Histopathological
Timucin Avsar1, Rashid Mohiyuddin, Seyma Calis
1Bahcesehir University, School of Medicine, Department of Medical Biology, Istanbul, Turkey.
Aim:
To elucidate the association of the MTHFR, MTRR, and RAD54L gene variations with meningioma in Turkish cohort.
Material And Methods:
DNAs were isolated from 87 retrospective meningioma samples. The MTHFR, MTRR, and RAD54L gene hotspot regions were amplified with specific primers via polymerase chain reaction (PCR), and next-generation sequencing (NGS) was performed. All the detected variations and single-nucleotide polymorphisms (SNPs) were listed and compared with healthy control frequencies in different genomic databases. The histopathological characteristics of meningiomas and genomic variations were compared. Pearson?s chi-squared test was used to detect the statistical differences of SNPs, and correlation analysis was conducted.
Results:
rs1801131, rs1801133, and rs4846051 on MTHFR, rs1801394 on MTRR, and rs1048771 on RAD54L gene frequencies were found to be significantly altered in the overall cohort of 87 patients with meningioma. The frequency of rs18011031 is 0.09 in the meningioma cohort, which is significantly correlated with WHO tumor grades (p = 0.038). The frequency of rs18011033 is 0.29 in the meningioma cohort, which is significantly correlated with WHO tumor grades (p = 0.045). Furthermore, the frequency of rs4846051 is 0.18 in the meningioma cohort, which is significantly correlated with WHO tumor grades (p = 0.023) and also with low Ki67 proliferation index (p = 0.00455). The frequency of rs1801394 is 0.15 and significantly associated with high Ki67 proliferation index in the meningioma cohort (p = 0.0144). The frequency of rs1048771 is 0.09 in the meningioma cohort and is significantly associated with the non-necrotic histopathological form of the tumor (p = 0.05).
Conclusion:
We reported a significant association between the genetic alterations of folate metabolism (MTHFR, MTRR) and DNA repair mechanism (RAD54L) genes with the histopathological characteristics of meningioma. Five significant SNPs on these genes and four significant correlations of SNPs with histopathological characteristics were identified. This is a preliminary promising study conducted to establish the genetic marker analysis for meningioma diagnosis and prognosis for folate metabolism and DNA repair genes in Turkish cohort.
Insights
Genetic variations in folate metabolism (MTHFR, MTRR) and DNA repair (RAD54L) genes are associated with meningioma characteristics in a Turkish cohort. These findings suggest potential genetic markers for meningioma diagnosis and prognosis.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Meningioma, a common primary brain tumor, arises from the meninges.
- Understanding the genetic underpinnings of meningioma is crucial for diagnosis and prognosis.
- Folate metabolism and DNA repair pathways are implicated in various cancers.
Purpose of the Study:
- To investigate the association between variations in MTHFR, MTRR, and RAD54L genes and meningioma in a Turkish population.
- To identify potential genetic markers correlating with meningioma histopathological features.
Main Methods:
- DNA analysis of 87 meningioma samples using polymerase chain reaction (PCR) and next-generation sequencing (NGS).
- Identification and comparison of gene variations and single-nucleotide polymorphisms (SNPs) with genomic databases.
- Statistical analysis, including Pearson's chi-squared test, to assess correlations between genetic variations and histopathological characteristics.
Main Results:
- Significant alterations in MTHFR (rs1801131, rs1801133, rs4846051), MTRR (rs1801394), and RAD54L (rs1048771) gene frequencies were observed in meningioma patients.
- Specific SNPs (rs18011031, rs18011033, rs4846051) showed significant correlations with WHO tumor grades.
- rs4846051 correlated with low Ki67 index, rs1801394 with high Ki67 index, and rs1048771 with non-necrotic tumors.
Conclusions:
- Genetic alterations in folate metabolism (MTHFR, MTRR) and DNA repair (RAD54L) genes are significantly associated with meningioma histopathological characteristics.
- Five significant SNPs and four significant correlations with histopathological features were identified.
- This preliminary study highlights the potential of genetic marker analysis for meningioma diagnosis and prognosis in the Turkish cohort.
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