Associations of methylation level of promoter region of MLH1 gene and genotypes of the exonic rs1799977

Video (download) Nadezhda Babushkina1, Anton Markov2, Irina Goncharova3, Ramil Salakhov4, Iuliia Koroleva5, Anna Postrigan6, Aleksei Zarubin7, Aleksei Sleptcov8, Aksana Kucher9, Maria Nazarenko101Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, nad.babushkina@medgenetics.ru2Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, anton.markov@medgenetics.ru3Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, irina.goncharova@medgenetics.ru4Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, ramil.salakhov@medgenetics.ru5Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, yuliya.koroleva@medgenetics.ru6Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, postrigan.anna@medgenetics.ru7Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, aleksei.zarubin@medgenetics.ru8Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, alexei.sleptcov@medgenetics.ru9Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, aksana.kucher@medgenetics.ru10Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, maria.nazarenko@medgenetics.ru The eQTL SNP in exon 8 of the MLH1 gene rs1799977, may affect the methylation level of the promoter region of the same gene. When studying both the effects of methylation level and individual SNPs on the formation of phenotypic variability in humans and the risk of developing pathological conditions, it is necessary to use a integrated data analysis approach.

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