Validation of Reported Single Nucleotide Polymorphisms in the TLR4 Gene Associated with Diabetic Foot Ulcer

Type 2 diabetes mellitus (T2DM) is a multifactorial disease is one of the most significant public health problems being faced today by about 387 million people worldwide and the count will be raised to 529 million by 2035. Uncontrolled blood sugar for long duration leads to many long term and short term complications. Among all the Macrovascular complications of diabetes, Diabetic Foot Ulcer is one with serious adverse effects responsible for most of the amputations performed. The present study is the part of case control study of Genetic and Non-genetic risk factors study among the subjects taken from the states of Andhra Pradesh and Telangana in India. A total of 180 subjects were selected. Out of these, 90 were diabetic cases and 90 were controls. All these subjects were used for non-genetic risk factor study. Only 41 diabetic cases and 10 controls were used for the SNP study. This study evaluates the presence of genetic polymorphism (A→G) rs1927911 in the Toll Like Receptor 4 (TLR4) gene, with proven role in predicting the risk Diabetic Foot Ulcer in the discrete diabetic population under study.
The result of the SNP study on our diabetic case subjects showed the consistency of the reported SNPs in 31.7%. A new SNP mutation was found in TLR4 gene in 21.7%. Both the SNPs were found in other 31.7% of the diabetic cases. The study showed increase in some of the biochemical parameters.
A further study on large sample size is required to be done to find the conclusive association of these old and new polymorphisms with Diabetic foot Ulcer.