engleski

Identification of novel single-nucleotide polymorphisms in lung cancer using genome-wide association analysis

Lung cancer is the leading cause of cancer- related deaths worldwide. Even though lung cancer is associated with tobacco smoking, genetic susceptibility plays an important role in disease etiology. Candidate susceptibility genes coding for enzymes involved in the activation, detoxification, and repair of damages caused by tobacco smoke as well as genes in inflammatory and cell-cycle pathways have been extensively studied. Immune system has been shown to be a determining factor during cancer initiation and progression. Recent immunotherapies targeting specific immune checkpoints such as programmed death 1 or programmed death ligand 1 have a powerful impact in cancer treatment. But in general, genes that are involved in immune pathways haven’t been fully studied. Genome-wide association studies (GWAS) have a great capability of detecting genetic variants for certain complex diseases like lung cancer. In GWAS case-control population is genotyped using microarrays. The resulting data is then analyzed in relation to disease or to quantitative trait phenotype. The results are all genetic variants in case-control population. Genetic variants that are present in more than 1% of the population are called single nucleotide polymorphism (SNP). Each SNP is then analyzed according to minor allele frequency, P-value, biological significance and other factors. Most GWAS hits point to regulatory regions rather than coding region of the gene. So further functional characterizations are needed. The aim of this study is to find new SNPs that are associated with lung cancer risk. Main focus is on immune genes. By using statistical analysis of GWAS data new SNPs are selected and analyzed in silico. Functional studies would then be done on significant SNPs to characterize them more in detail. New identified SNPs could then be used as biomarkers for detection of lung cancer or they could be even used in development of immune and target therapies.

lung cancer ; SNP ; GWAS ; bioinformatic ; immune system

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