| Summary: | The number of people suffering from metabolic syndrome (MetS) including type 2 diabetes (T2DM), hypertension, and obesity increased over 10 times through the last 30 years and it is a severe public health concern worldwide. Uncoupling protein 1 (UCP1) is a mitochondrial carrier protein found only in brown adipose tissue involved in thermogenesis and energy expenditure. Several studies showed an association between <i>UCP1</i> variants and the susceptibility to MetS, T2DM, and/or obesity in various populations; all these studies were, however, limited to a few selected polymorphisms. The present study aimed to search within the entire <i>UCP1</i> gene for new variants potentially associated with MetS and/or T2DM risk. We performed NGS sequencing of the entire <i>UCP1</i> gene in 59 MetS patients including 29 T2DM patients, and 36 controls using the MiSeq platform. An analysis of allele and genotype distribution revealed nine variations which seem to be interesting in the context of MetS and fifteen in the context of T2DM. Altogether, we identified 12 new variants, among which only rs3811787 was investigated previously by others. Thereby, NGS sequencing revealed new intriguing <i>UCP1</i> gene variants potentially associated with MetS and/or T2DM risk in the Polish population.
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