Title : Functional effects of rs10830963 MTNR1B gene associated with gestational diabetes mellitus and type 2 diabetes mellitus
Abstract:
The aim of the study was to analyze the functional effects of the GWAS-significant polymorphic locus rs10830963 of the MTNR1B gene. Materials and methods. To evaluate the functional potential according to the GWAS Catalog, a polymorphic locus was selected that was most significantly associated with gestational diabetes mellitus and type II diabetes mellitus (rs10830963 MTNR1B). The functional effects of the GWAS-significant polymorphic locus rs10830963 of the MTNR1B gene was analyzed using the RegulomeDB program. Results. The GWAS Catalog presents data on more than 100 associations of the polymorphic locus rs10830963 of the MTNR1B gene with gestational diabetes mellitus, type II diabetes mellitus and glucose- involved phenotypes (high fasting blood glucose, insulin secretion rate, insulin disposition index, serum metabolite levels, pulse pressure, birth weight, etc.). It was found that rs10830963 of the MTNR1B gene is located at 11q14.3, in the area of gene enhancers in the musculature of the body, endocrine glands, exocrine glands, liver, strong transcription positions in the brain (neurosphere). Polymorphic locus rs10830963 of the MTNR1B gene is associated with PolyComb in endocrine glands, adipose tissue, adrenal glands, etc. This SNP has a RegulomeDB rank equal to 3A (transcription factors binding + any motif + DNase peak). Conclusion. SNP rs10830963 of the MTNR1B gene involved in the development of gestational diabetes mellitus and type II diabetes mellitus has significant functional effects.
