The c.*229C > T gene polymorphism in 3′UTR region of the topoisomerase IIβ binding protein 1 gene and LOH in BRCA1/2 regions and their effect on the risk and progression of human laryngeal carcinoma
Autor: | Wioletta Pietruszewska, Katarzyna Starska, Iwona Lewy-Trenda, Magdalena Bryś, Piotr Ciesielski, Michał Skóra, Ewa Forma, Maria Nowacka-Zawisza |
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Rok vydání: | 2015 |
Předmět: |
Male
0301 basic medicine Pathology medicine.medical_specialty Genes BRCA2 Genes BRCA1 Gene Expression Loss of Heterozygosity Single-nucleotide polymorphism Kaplan-Meier Estimate Biology Polymorphism Single Nucleotide Loss of heterozygosity 03 medical and health sciences 0302 clinical medicine Gene Frequency Risk Factors medicine Carcinoma Humans Genetic Predisposition to Disease Neoplasm Invasiveness Allele 3' Untranslated Regions Laryngeal Neoplasms Genetic Association Studies Aged Nuclear Proteins Cancer General Medicine Odds ratio Middle Aged Prognosis medicine.disease Tumor Burden DNA-Binding Proteins 030104 developmental biology Genetic marker Case-Control Studies Lymphatic Metastasis 030220 oncology & carcinogenesis Carcinoma Squamous Cell Disease Progression Cancer research Female Gene polymorphism Carrier Proteins |
Zdroj: | Tumor Biology. 37:4541-4557 |
ISSN: | 1423-0380 1010-4283 |
Popis: | Topoisomerase IIβ binding protein 1 (TopBP1), a multiple-BRCT-domain, protein plays crucial roles in chromosome replication, DNA damage repair, apoptosis, and cell cycle checkpoint signalling. The aim of this study was to identify five SNPs at loci potentially located in the 3'UTR region of the TopBP1 gene (rs185903567, rs116645643, rs115160714, rs116195487, rs112843513), their relationship with the risk of squamous cell laryngeal cancer (SCLC), tumor invasiveness, and prognosis. Genotyping was performed in 323 genetically unrelated individuals with SCLC and 418 randomly selected healthy volunteers. Allele-specific TopBP1 mRNA and protein expressions were determined by using real-time PCR and Western blotting techniques, respectively. LOH in BRCA1/BRCA2 was determined by using microsatellite markers. Compared to homozygous common allele carriers, heterozygosity for the T variant was associated with increased risk of SCLC (adjusted odds ratio [OR] = 9.83, 95 % confidence interval [CI]: 3.12-22.16, p dominant |
Databáze: | OpenAIRE |
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