SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03633409

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Differential EBI2 Expression Upon Allelic Status of the rs9557195 Polymorphism

EBI2 is a risk gene for inflammatory bowel diseases (rs9557195). Patients of the Swiss IBD cohort study have been genotyped for the allelic status of EBI2. The investigators will test the influence of rs9557195 genoty (TT or CC allel), inflammatory activity and current treatment (infliximab vs. vedolizumab) on expression and activity of EBI2 on blood lymphocytes, mRNA expression of EBI2 and UBAC2 (located on the opposite DNA strand of EBI2) and activity of lymphocytes on a migraton assay.

NCT03633409 Inflammatory Bowel Diseases
MeSH: Inflammatory Bowel Diseases
HPO: Inflammation of the large intestine


Primary Outcomes

Description: EBI2 levels in PBMCs will be determined by FACS, and compared according to allele status of rs9557195

Measure: EBI2 expression - dependent on rs9557195 allele status (FACS)

Time: at time of inclusion into the study

Secondary Outcomes

Description: EBI2 levels in PBMCs will be determined by RT-PCR, and compared according to EBI2 levels in PBMCs will be determined by RT-PCR, and compared according to allele status of rs9557195

Measure: EBI2 expression - dependent on rs9557195 allele status (RT-PCR)

Time: at time of inclusion into the study

Description: UBAC2 levels in PBMCs will be determined by RT-PCR, and compared according to 2 levels in PBMCs will be determined by RT-PCR, and compared according to allele status of rs9557195

Measure: UBAC2 expression - dependent on rs9557195 allele status (RT-PCR)

Time: at time of inclusion into the study

Description: motility of PBMCs will be assessed using the Boyden chamber and compared according to allele status of rs9557195

Measure: Motility of PBMCs dependent on rs9557195 allele status (Boyden chamber)

Time: at time of inclusion into the study

Description: We will compare EBI2 expression as determined by FACS in individuals with infliximab and vedolizumab treatment

Measure: EBI2-expression (FACS) in individuals treated with infliximab vs. vedolizumab

Time: at time of inclusion into the study

Description: We will compare EBI2 expression (determined by FACS) in IBD patients with severe disease, in remission and in healthy volunteers

Measure: EBI2-expression (FACS) according to gut inflammation

Time: at time of inclusion into the study

Time Perspective: Cross-Sectional

Cohort


There is one SNP

SNPs


1 rs9557195

Differential EBI2 Expression Upon Allelic Status of the rs9557195 Polymorphism.

Differential EBI2 Expression Upon Allelic Status of the rs9557195 Polymorphism EBI2 is a risk gene for inflammatory bowel diseases (rs9557195).

The investigators will test the influence of rs9557195 genoty (TT or CC allel), inflammatory activity and current treatment (infliximab vs. vedolizumab) on expression and activity of EBI2 on blood lymphocytes, mRNA expression of EBI2 and UBAC2 (located on the opposite DNA strand of EBI2) and activity of lymphocytes on a migraton assay.

EBI2 expression - dependent on rs9557195 allele status (FACS).

EBI2 levels in PBMCs will be determined by FACS, and compared according to allele status of rs9557195.

EBI2 expression - dependent on rs9557195 allele status (RT-PCR).

EBI2 levels in PBMCs will be determined by RT-PCR, and compared according to EBI2 levels in PBMCs will be determined by RT-PCR, and compared according to allele status of rs9557195.

UBAC2 expression - dependent on rs9557195 allele status (RT-PCR).

UBAC2 levels in PBMCs will be determined by RT-PCR, and compared according to 2 levels in PBMCs will be determined by RT-PCR, and compared according to allele status of rs9557195.

Motility of PBMCs dependent on rs9557195 allele status (Boyden chamber).

motility of PBMCs will be assessed using the Boyden chamber and compared according to allele status of rs9557195.

medically controlled arterial hypertension, occupational asthma) may be present Exclusion Criteria: none Inflammatory Bowel Diseases Inflammatory Bowel Diseases EBI2 is a risk gene for inflammatory bowel diseases (rs9557195).

The investigators will test the influence of rs9557195 genotype (TT or CC allel), inflammatory activity and current treatment (infliximab vs. vedolizumab) on expression and activity of EBI2 on blood lymphocytes (by FACS using an EBI2-antibody), mRNA expression (by qPCR) of EBI2 and UBAC2 (located on the opposite DNA strand of EBI2) and activity of lymphocytes on a migration assay.



HPO Nodes


HPO:
Inflammation of the large intestine
Genes 43
TGFB1 IL10RA IL10RB MST1 XIAP CASP10 PRKCD RASGRP1 TCF4 NCF4 SLC9A3 PLCG2 TNFAIP3 LRBA CARMIL2 GPIHBP1 WAS WIPF1 RIPK1 FAS SKIV2L FASLG CIITA MAP3K7 RTEL1 COG6 RFX5 RFXAP GPR35 POLA1 ARPC1B ZAP70 RFXANK F13A1 NLRC4 STAT1 F13B OPLAH HPS1 IL21 MASP2 FERMT1 FOXP3