title: The identification of pathway markers in intracranial aneurysm using genome-wide association data from two different populations.
abstract: The identification of significant individual factors causing complex diseases is challenging in genome-wide association studies (GWAS) since each factor has only a modest effect on the disease development mechanism. In this study, we hypothesize that the biological pathways that are targeted by these individual factors show higher conservation within and across populations. To test this hypothesis, we searched for the disease related pathways on two intracranial aneurysm GWAS in European and Japanese case-control cohorts. Even though there were a few significantly conserved SNPs within and between populations, seven of the top ten affected pathways were found significant in both populations. The probability of random occurrence of such an event is 2.44E-36. We therefore claim that even though each individual has a unique combination of factors involved in the mechanism of disease development, most targeted pathways that need to be altered by these factors are, for the most part, the same. These pathways can serve as disease markers. Individuals, for example, can be scanned for factors affecting the genes in marker pathways. Hence, individual factors of disease development can be determined; and this knowledge can be exploited for drug development and personalized therapeutic applications. Here, we discuss the potential avenues of pathway markers in medicine and their translation to preventive and individualized health care.
authors.affiliation: Department of Genetics and Bioinformatics, Faculty of Arts and Sciences, Bahcesehir University, Istanbul, Turkey. burcu.gungor@bahcesehir.edu.tr
authors.forename: Burcu
authors.initials: B
authors.lastname: Bakir-Gungor
authors.forename: Osman Ugur
authors.initials: OU
authors.lastname: Sezerman
mesh_terms: D044466:Asian People / Q000235:genetics*; D015415:Biomarkers / Q000378:metabolism; D020013:Calcium Signaling / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D055106:Genome-Wide Association Study; D006801:Humans; D002532:Intracranial Aneurysm / Q000201:enzymology / Q000235:genetics*; D020935:MAP Kinase Signaling System / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics*; D016212:Transforming Growth Factor beta / Q000235:genetics / Q000378:metabolism; D044465:White People / Q000235:genetics*
chemical_list: D015415:Biomarkers; D016212:Transforming Growth Factor beta