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

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Nadezhda Babushkina¹, Anton Markov², Irina Goncharova³, Ramil Salakhov⁴, Iuliia Koroleva⁵, Anna Postrigan⁶, Aleksei Zarubin⁷, Aleksei Sleptcov⁸, Aksana Kucher⁹, Maria Nazarenko^10
1Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, nad.babushkina@medgenetics.ru
²Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, anton.markov@medgenetics.ru
³Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, irina.goncharova@medgenetics.ru
⁴Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, ramil.salakhov@medgenetics.ru
⁵Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, yuliya.koroleva@medgenetics.ru
⁶Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, postrigan.anna@medgenetics.ru
⁷Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, aleksei.zarubin@medgenetics.ru
⁸Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, alexei.sleptcov@medgenetics.ru
⁹Research Institute of Medical Genetics, TNRMC RAS, Tomsk, Russia, aksana.kucher@medgenetics.ru
¹⁰Research 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.