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
