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Report for SNP rs9557195

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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

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.

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


HPO Nodes


Inflammation of the large intestine
Genes 56
TTC37 RIPK1 OPLAH SLC9A3 CASP10 F13A1 RTEL1 ARPC1B MAP3K7 NCF4 XIAP IL10RA CIITA HLA-DRB1 NLRC4 FOXP3 WIPF1 RASGRP1 LRBA RFXANK TCF4 PRKCD TGFB1 FAS SKIV2L FAS CARMIL2 BACH2 RFX5 RFXAP PLCG2 MST1 IRGM IL10RB WAS GPIHBP1 SKIV2L ZAP70 COG6 HPS1 IL21 FERMT1 FASLG MASP2 IL6 HLA-B POLA1 NOD2 TNFAIP3 ZAP70 RET F13B GPR35 WAS STAT1 ABCB1