The Study of rs450819 Polymorphism on Metabolic Syndrome in People with Mutation in DYRK1B Gene

Abstract

Background: Metabolic syndrome is the clustering of multiple factors that directly increase the risk of cardiovascular disease and type 2 diabetes. Two missense mutations of the DYRK1B gene, including H90P and R102C, were recently found to co-segregate with a rare autosomal-dominant form of metabolic syndrome, called abdominal obesity-metabolic syndrome (AOMS3). Affected individuals developed early-onset cardiovascular disease, hypertension, central obesity, and diabetes. Objectives: The DYRK1B R102C mutation significantly increases the key gluconeogenic enzyme and glucose-6-phosphatase. Methods: In this research, we evaluated the association between single nucleotide polymorphism (SNP) rs4508194 and metabolic syndrome in individuals with DYRK1B gene mutations. The rs450819 genotypes are determined by polymerase chain reaction in 121 heterozygote and homozygote subjects in the DYRK1B gene. PCR products were sequenced, and then a survey was conducted on the sequences. Data were analyzed with chi-square statistical testing and Prism6 and SPSS software. Results: The results do not show a correlation between these SNP alleles and increased metabolic syndrome risk in individuals suffering from metabolic syndrome and its risk factors. Conclusions: The rs450819 SNP genotypes do not play a role in the development of metabolic syndrome.