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From regulatory SNPs to pathways: Multi-omics insights into the bi-ological mechanisms underlying type 2 diabetes (TD2M) and metformin response
by Korbolina Elena E. | Damarov Igor S. | Merkulova Tatiana I. | IC&G SB RAS | IC&G SB RAS | IC&G SB RAS
Abstract ID: 213
Event: BGRS-abstracts
Sections: [Sym 1] Section “Regulatory genomics”

The experience with GWAS analysis has revealed the success of studies in connecting genotype and phenotype but certain limitations when informing on the functional consequences of SNPs on genes. Therefore, the multi-omics studies aimed at identifying functionally significant genetic variants are gaining popularity. In this work, we focus on identifying regulatory SNPs (rSNPs) potentially involved in the development of type 2 diabetes mellitus (T2DM) and response to antihyperglycemic therapy. As a result we constructed the list of human rSNPs identified from PBMCs of nine healthy donors from Novosibirsk which add to the functional interpretation of GWAS-association signals. We also suggest the candidate causal rSNPs for T2DM as well as for the beneficial effects of metformin with a strong enrichment of rSNP-targeted genes in the pathways related to glucose metabolism and inflammation.

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