Analysis of expression of MGP, UMOD, SPP1, F2, FN1, HAVCR1 genes associated with the development of urolithiasis
Introduction. Improving molecular genetic methods for diagnosing polygenic forms of urolithiasis is an urgent task in urology.Khotko D.N., Polukonova N.V., Pylaev T.E., Veretennikov S.S., Bucharskaya A.B., Popkov V.M., Khotko A.I., Tarasenko A.I., Altynbaev R.R.
Aim. To study the relative expression level of the MGP, UMOD, SPP1, F2, FN1, HAVCR1 genes associated with the development of urolithiasis and the number of proteins encoded by them (Gla protein, prothrombin, fibronectin, osteopontin, uromodulin and TIM-1 protein) in patients with urolithiasis.
Material and methods. Forty-nine people were examined, including 45 patients with urolithiasis and 4 people from the control group, with the average age was 67±12 years. Healthy volunteers served as controls. mRNA was isolated from peripheral venous blood. It was reverse-transcribed into cDNA, and the relative expression levels of the target genes were quantified by RT-PCR.
Results. According to the level of expression of the genes MGP, UMOD, SPP1, F2, FN1, HAVCR1 in the blood, clear hiatuses were identified between the values in the control group and in those with urolithiasis, while no differences were found in the quantitative content of their protein products, either in the blood or urine.
Conclusion. In the blood, with a relative level of expression of the gene MGP above 10%, F2 above 0.5%, FN1 above 0.2%, UMOD above 0.04%, SPP1 above 0.001%, HAVCR1 above 0.01%, urolithiasis can be predicted. The specified levels of expression of the genes MGP, UMOD, SPP1, F2, FN1, HAVCR1 in the blood allow reliable identification of patients with urolithiasis in comparison with the quantitative content of protein products of these genes in the blood and urine.
Keywords
urolithiasis
diagnostics
gene expression
MGP
UMOD
SPP1
F2
FN1
HAVCR1