ARMS-PCR is a rapid, inexpensive, and highly applicable gene mutation screening method both for research purposes and in clinical practice, according to a new study published in Current Issues in Molecular Biology.

The study by Abdullah Hamadi and colleagues used the method to analyze the vascular endothelial growth factor (VEGF) gene and the micro RNA miRNA-423, 2 genetic modifiers that are known to be associated with high levels of fetal hemoglobin (HbF), and therefore disease severity in patients with sickle cell disease (SCD).

The researchers analyzed samples obtained from people with clinically confirmed SCD and healthy controls. They looked at the prevalence of miR-423-rs6505162 C>T and VEGF-2578 C>A and both groups of people. When they compared the association of miR-423 C>T genotypes between patients with SCD and healthy controls, researchers found a strong clinical significance.

Read more about the genetics of SCD

Moreover, the miRNA-423 AA genotype was associated with more severe disease in codominant as well as recessive inheritance models compared to the CC+CA. Therefore, the A allele was associated with the severity of the disease. There was also a significant distribution of VEGF-2578 C>A genotypes between patients and healthy controls. 

“Our results indicated that in the codominant model, the VEGF-2578-CA genotype was strongly associated with increased SCD severity,” the researchers wrote. The highest expression of HbF was seen in patients carrying the CA genotype in miR-423. This was followed by genotype CC and genotype AA.

“This research highlights the significance of elucidating genetic determinants that play roles in the amelioration of the HbF levels that is used as an indicator of severity of clinical complications of the monogenic disease,” the researchers concluded. “Further well-designed studies with larger sample sizes are necessary to confirm our findings.”

Reference

Hamadi A, Mir R, Mahzari A, et al. Molecular determination of vascular endothelial growth factor, miRNA-423 gene abnormalities by utilizing ARMS-PCR and their association with fetal hemoglobin expression in the patients with sickle cell disease. Curr Issues Mol Biol. 2022;44(6):2569-2582. doi:10.3390/cimb44060175