title: Potential relationship between single nucleotide polymorphisms used in forensic genetics and diseases or other traits in European population.
abstract: Single nucleotide polymorphisms (SNPs) are an interesting option to facilitate the analysis of highly degraded DNA by allowing the reduction of the size of the DNA amplicons. The SNPforID 52-plex panel is a clear example of the use of non-coding SNPs in forensic genetics. However, nonstop advances in studies of genetic polymorphisms are leading to the discovery of new associations between SNPs and diseases. The aim of this study was to perform a comprehensive review of the state of association between the 52 SNPs in the 52-plex panel and diseases or other traits related to their treatment, such as drug response characters. In order to achieve this goal, we have conducted a bioinformatic search for each SNP included in the panel and the SNPs in linkage disequilibrium (LD) with them in the European population (r (2)  > 0.8). A total of 424 SNPs (52 in the panel and 372 in LD) were investigated in PubMed, Scopus, and dbSNP databases. Our results show that three SNPs in the SNPforID 52-plex panel (rs2107612, rs1979255, rs1463729) have been associated with diseases such as hypertension or macular degeneration, as well as drug response. Similarly, three out of the 372 SNPs in LD (rs2107614, r (2)  = 0.859; rs765250, r (2)  = 0.858; rs11064560, r (2)  = 0,887) are also associated with various pathologies. In view of these results, we propose the need for a periodic review of the SNPs used in forensic genetics in order to keep their associations with diseases or related phenotypes updated and to evaluate their continuity in forensic panels for avoiding legal and ethical conflicts.
authors.affiliation: Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Odontology, University of the Basque Country (UPV/EHU), Leioa, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Pombar-Gomez
authors.forename: Elixabet
authors.initials: E
authors.lastname: Lopez-Lopez
authors.forename: Idoia
authors.initials: I
authors.lastname: Martin-Guerrero
authors.forename: Africa
authors.initials: A
authors.lastname: Garcia-Orad Carles
authors.forename: Marian M
authors.initials: MM
authors.lastname: de Pancorbo
mesh_terms: D004194:Disease / Q000235:genetics*; D058068:Endophenotypes; D005060:Europe; D053803:Forensic Genetics / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005828:Genetics, Population / Q000379:methods*; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics; D015810:Linkage Disequilibrium; D008268:Macular Degeneration / Q000235:genetics; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D019655:Quantitative Trait, Heritable; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins / Q000235:genetics
chemical_list: C455479:RBFOX1 protein, human; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins