In silico and Genotypic Analysis of Single Nucleotide Polymorphisms (SNPs) of Protein Tyrosine Phosphatase Non-Receptor Type 1 (PTPN1) in Type 2 Diabetes Mellitus (T2DM)

Abstract

Type 2 Diabetes Mellitus (T2DM) is one of the leading incommunicable and rapidly growing health afflictions worldwide; a condition challenging to treat and costly to manipulate. A global estimation of diabetes by the International Diabetes Federation (IDF) in 2021 stipulates those 537 million adults lying in the age group of 20-79 are currently living with diabetes. This number is anticipated to ascent to 643 million by 2030 and 783 million by 2045. The risk factors associated with T2DM includes hormonal, environmental, and genetic. The aim of the study was to replicate intronic SNPs (rs3787345 and rs718049) of PTPN1 gene within the Pakistani population that has been reported earlier in Caucasian and French population via ARMS PCR. In silico analysis was carried out for the prediction of most deleterious missense SNPs in PTPN1 gene. Results of our in-silico study revealed that the 16 missense SNPs that can dysregulate the function of PTPN1. The genotypic analysis of the two selected intronic SNPs rs3787345 and rs718049 manifested the presence of heterozygous genotype (CT) in the sample study of rs718049 while rs3787345 requires further investigation. Our results support the existence of functionally significant intronic SNPs in T2DM patients. Further studies having substantial sample size are required to authenticate our findings