Spexin gene polymorphism in type 2 diabetes mellitus patients of South Indian population

Abstract

Background and Aims:  The purpose of the study is to assess the concentrations of spexin (SPX) and other specific biochemical parameters, subsequently spexin (SPX) gene polymorphisms among south Indian healthy controls and in T2DM and T2DM +HTN patient’s blood samples, which were selected according to certain inclusion and exclusion criteria. Material and Method: Named and kit methods are used for the evaluation of spexin, biochemical parameters, and for Spexin (SPX) gene polymorphism.

Results: In this prospective study, spexin concentration is a negatively associated biomarker, and elevated levels of glucose, insulin resistance, liver enzymes, and inflammation are independently associated with assessing the diabetic and arterial hypertension disease states. The SPX gene sequencing illustrates exon mutation in the 6^th   position and no polymorphism is detected in the 2^nd, 3^rd, 4^th, and 5^th exons. Whereas intronic mutations are observed in the 3^rd and 5^th positions. Furthermore, heterogenous mutations are observed in the 8^th and 13^th samples. Samples 10 and 14 showed homozygous of -42G>A mutation in exon 6. Samples 11, 12, 18, 19, 21, and 22 showed a heterozygous mutation (-42G>R) in the intron that is present 5´ to the exon 6. There is a deletion mutation in the acceptor site of the intron present 5’ to the exon 4.

Conclusion: This is the first study reporting an association between spexin gene polymorphisms and the levels of spexin peptide.