Potential Regulatory SNPs in the ATXN7L3B and KRT15 Genes are Associated with Gender-Specific Colorectal Cancer Risk

• DOI: 10.2217/pme-2019-0059
• Publication Date: 2019-12-04T10:43:50Z
• Authors: Elena Yu Leberfarb; Arina O Degtyareva; Ilya I Brusentsov; Vladimir N Maximov; Mikhail I Voevoda; Alexander I Auten...; Dmitriy V Morozov; Andrey V Sokolov; Tatiana I Merkulova
• Keywords: Male; Sex Characteristics; Keratin-15; Middle Aged; Polymorphism, Single Nucleotide; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Haplotypes; Case-Control Studies; Humans; Female; Genetic Predisposition to Disease; Colorectal Neoplasms; Aged; Genome-Wide Association Study; Transcription Factors

Aim: According to the current data, a major factor for phenotypic variation of complex traits and disease susceptibility is cis-acting effects noncoding variants on gene expression. Our purpose was evaluate association between colorectal cancer (CRC) six single nucleotide polymorphisms identified using our original bioinformatics approach as regulatory putatively related CRC. Materials: One hundred sixty CRC patients 185 healthy controls have been genotyped rs590352, rs2072580, rs78317230, rs3829202, rs11542583 rs4796672. Results: Genotypes alleles distributions rs590352 ATXN7L3B were significantly different male subjects controls. Significant correlation genotype with observable women only rs4796672 KRT15 gene. Analysis haplotypes reveals that rs2072580 ISCU SART3 genes can be also associated Conclusion: We three SNPs risk demonstrated gender specificity