Association between RAD 51 rs1801320 and susceptibility to glioblastoma.
Glioblastoma is the most common and aggressive malignant primary brain tumor. Despite decades of research and the advent of new therapies, patients with glioblastoma continue to have a very poor prognosis. Radiation therapy has a major role as adjuvant treatment for glioblastoma following surgical resection. Many studies have shown that polymorphisms of genes involved in pathways of DNA repair may affect the sensitivity of the cells to treatment. Although the role of these polymorphisms has been investigated in relation to response to radiotherapy, their role as predisposing factors to glioblastoma has not been clarified yet. In the present study, we evaluated the association between polymorphisms in DNA repair genes, namely: XRCC1 rs25487, XRCC3 rs861539 and RAD51 rs1801320, with the susceptibility to develop glioblastoma. Eighty-five glioblastoma patients and 70 matched controls were recruited for this study. Data from the 1000 Genomes Project (98 Tuscans) were also downloaded and used for the association analysis. Subjects carrying RAD51 rs1801320 GC genotype showed an increased risk of glioblastoma (GC vs GG, χ(2) = 10.75; OR 3.0087; p = 0.0010). The C allele was also significantly associated to glioblastoma (χ(2) = 8.66; OR 2.5674; p = 0.0032). Moreover, RAD51 rs1801320 C allele increased the risk to develop glioblastoma also when combined to XRCC1 rs25487 G allele and XRCC3 rs861539 C allele (χ(2) = 6.558; p = 0.0053).
Department of Surgical, Molecular and Ultrastructural Pathology, University Hospital of Pisa, Via Roma 57, 56126, Pisa, PI, Italy. sara.franceschi@fondazionepisascienza.org.|Pisa Science Foundation, Via Panfilo Castaldi 2, 56121, Pisa, PI, Italy. sara.franceschi@fondazionepisascienza.org.
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Franceschi
Sidra Medical and Research Center, P.O. Box 26999, Doha, Qatar.
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Tomei
Pisa Science Foundation, Via Panfilo Castaldi 2, 56121, Pisa, PI, Italy.
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Mazzanti
Pisa Science Foundation, Via Panfilo Castaldi 2, 56121, Pisa, PI, Italy.
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Lessi
Pisa Science Foundation, Via Panfilo Castaldi 2, 56121, Pisa, PI, Italy.
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Aretini
Pisa Science Foundation, Via Panfilo Castaldi 2, 56121, Pisa, PI, Italy.
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La Ferla
Pisa Science Foundation, Via Panfilo Castaldi 2, 56121, Pisa, PI, Italy.
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De Gregorio
Radiotherapy Unit, University Hospital of Pisa, Via Roma 67, 56126, Pisa, PI, Italy.
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Pasqualetti
Department of Surgical, Molecular and Ultrastructural Pathology, University Hospital of Pisa, Via Roma 57, 56126, Pisa, PI, Italy.
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Zavaglia
Department of Surgical, Molecular and Ultrastructural Pathology, University Hospital of Pisa, Via Roma 57, 56126, Pisa, PI, Italy.
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Bevilacqua
Department of Surgical, Molecular and Ultrastructural Pathology, University Hospital of Pisa, Via Roma 57, 56126, Pisa, PI, Italy.
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Naccarato
D000368:Aged; D001932:Brain Neoplasms / Q000235:genetics*; D004260:DNA Repair; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005909:Glioblastoma / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D051135:Rad51 Recombinase / Q000235:genetics*; D012307:Risk Factors; D000076105:X-ray Repair Cross Complementing Protein 1
D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C110901:X-ray repair cross complementing protein 3; C000619371:XRCC1 protein, human; C495153:RAD51 protein, human; D051135:Rad51 Recombinase
DNA repair genes; Glioblastoma; Polymorphisms; RAD51; Risk