METHOD FOR SCREENING NON-INVASIVE DIAGNOSIS OF CROHN'S DISEASE USING METABOLIC-GENOMIC PROFILING METHODS Russian patent published in 2023 - IPC C12Q1/6872 G01N33/50 

FIELD: medicine; molecular biology; biotechnology.

SUBSTANCE: method for screening non-invasive diagnosis of Crohn's disease by the methods of metabolomic-genomic profiling based on a two-stage protocol is proposed. The protocol includes the following at the first stage: a) isolation of metabolites and DNA from a stool sample, b) analysis of stool metabolites by GC-MS with headspace extraction; c) calculation of the relative intensity of valeric acid obtained by correlating with the total ion current of the metabolites analyzed in the stool sample (b); d) correlating the obtained value of the relative concentration of valeric acid with the risk of developing IBD, according to the above scheme: with a relative concentration of valeric acid from 0.1 to 0.12, considering the risk of developing IBD equal to 50 to 85%; e) determination of genotype variants of IRGM RS4958847 and ICOSLG RS762421 gene polymorphisms; f) calculation of the cumulative risk of developing IBD according to genotyping data IRGM RS4958847 and ICOSLG RS762421. If the individual risk value is equal to or greater than 1.36, consider the risk of IBD formation as diagnostically significant. At the second stage: a) determination of genotype variants of NOD2 rs2066844 gene polymorphisms; NOD2rs2066845; NOD2rs17221417; RS7807268; SLC22A4 RS1050152; b) calculation of the cumulative risk of developing Crohn's disease according to the NOD2 rs2066844 genotyping data; NOD2rs2066845; NOD2rs17221417; RS7807268; SLC22A4 RSI050152. The value of the individual risk is calculated according to the data of the MAG indicator.

EFFECT: considered method provides an opportunity both to identify the risk of developing IBD and to calculate a possible genetic predisposition to the development of Crohn's disease.

1 cl, 2 ex