Dual mapping of MTHFR C677T (A1298C) and BDNF G196A (Val66Met) polymorphisms in patients with diabetic peripheral neuropathy

- OBJECTIVE: Diabetic peripher-al neuropathy (DPN) is a loss of distal sensory function in the lower limbs that is accompanied by pain and severe morbidity. The goal of this study was to perform a screening of the MTH-FR C677T (A1298C) and BDNF G196A (Val66Met) polymorphisms and determine their possible re-lationships using biochemical blood tests and clinical presentations of symptoms in Jordanian patients with DPN. PATIENTS AND METHODS: A cross-section-al study was conducted, and medical records were used to identify and recruit patients with DPN and collect their demographic and clini-cal characteristics. The total neuropathy score (TNSr) was used to assess the severity of sen-sory symptoms. In addition, direct sequencing was performed after Polymerase Chain Reaction (PCR) amplification to screen the two single nu-cleotide polymorphisms (SNPs) of interest. RESULTS: Ninety patients with DPN partici-pated in the study. The MTHFR-SNP variant (CT) and (TT) genotypes were identified in 39 (43.3%) and 19 (21.1%) patients, respectively. On the oth-er hand, the BDNF-SNP variant (GA) and (AA) genotypes were identified in 22 (24.4%) and 11 (12.2%) patients, respectively. The distributions of the genotype frequencies of the MTHFR-SNP and BDNF-SNP variants statistically differed be-tween patients with DPN and the control group (p < 0.0001, p < 0.002). Moreover, patients carry-ing variant genotypes of the two analyzed SNPs were more likely to have unsatisfactory HbA1c levels (> 7 mg/dl, p = 0.029) and moderate to se-vere symptoms (TNSr score 8-24). CONCLUSIONS: The results of this study show that the MTHFR C>T-677 SNP and the BD-NF G>A-196 SNP can be used as genetic risk markers for DPN. Assessing patients' genet-ic-metabolic risk profiles is recommended for providing personalized treatment.

Automated summary

This study aimed to screen MTH-FR C677T (A1298C) and BDNF G196A (Val66Met) polymorphisms in Jordanian patients with diabetic peripheral neuropathy (DPN) and determine their relationships. The results showed that the MTHFR C>T-677 SNP and the BDNF G>A-196 SNP can serve as genetic risk markers for DPN.