Poster Presentation: Oncology
Molnár, Zsuzsanna
Department of Medical Chemistry, Molecular Biology and Pathobiochemistry
+36206660135
elek.zsuzsanna@med.semmelweis-univ.hu
Genetic factors of the glycosylation pattern in lung cancer: a study of biomarkers for prevention and prognosis
Zsuzsanna Molnár 1
1 Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Budapest
Poster Presentation: Oncology
Doctoral School: Molecular Medicine 7
Program: Pathobiochemistry 7/2
Supervisor: Zsolt Rónai
E-mail address: elek.zsuzsanna@med.semmelweis-univ.hu
Introduction:
Lung cancer is the leading cause of death among all malignancies, as it is usually diagnosed in late disease stage. Recently a modified glycosylation pattern was shown providing a potential target for biomarker identification, as genetic variants of glycosyltransferases and glycosidases might play a role in these molecular mechanisms.
Aims:
Analysis of genetic variants of glycosyltransferases and glycosidases might contribute to the identification of sensitive and specific markers, even at early disease stages.
Method:
Genes and SNPs were selected by in silico methods. Genotyping was carried out by Single-Base Extension (SBE) technology in combination with sensitive capillary electrophoresis based fragment analysis. A subsample was re-genotyped by allele specific amplification (ASA) for quality control. Association study was carried out in a case–control setup. The Hardy–Weinberg equilibrium (HWE) for genotype distributions was assessed by χ2-test.
Results:
An effective genotyping tool was elaborated and applied in an association study of lung cancer including five genes (ST3GAL1, ST6GAL1, FUT2, FUT3, MGAT5) and 16 SNPs. Four regions of the ST3GAL1 gene were amplified simultaneously in a multiplex PCR. SBE analyses were carried out in a multiplex format as well using primers with different lengths corresponding to certain SNPs. A subset (10%) of the total samples was genotyped by both techniques (ASA and SBE), resulting in concordant results in case of each sample. Significant association could be demonstrated between lung cancer and rs4736675 SNP.
Conclusion:
The rs4736675 SNP is located in the binding site of three microRNAs (miR-582, miR-4463 and miR-4494), possibly contributing to the genetic risk of the disease by modulation of gene expression. These results might help to understand the molecular processes in the background of lung cancer, which could be of clinical significance providing novel approaches of therapy or secondary prevention.
P37
Szabad
nem rendelkezett róla
1197
Zsuzsanna Molnár 1
1 Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Budapest