TY - JOUR
T1 - Mucosal expression of PI3, ANXA1, and VDR discriminates Crohn's disease from ulcerative colitis
AU - James, Jaslin Pallikkunnath
AU - Nielsen, Boye Schnack
AU - Christensen, Ib Jarle
AU - Langholz, Ebbe
AU - Malham, Mikkel
AU - Poulsen, Tim Svenstrup
AU - Holmstrøm, Kim
AU - Riis, Lene Buhl
AU - Høgdall, Estrid
N1 - © 2023. The Author(s).
PY - 2023/10/27
Y1 - 2023/10/27
N2 - Differential diagnosis of inflammatory bowel disease (IBD) to Crohn's disease (CD) or ulcerative colitis (UC) is crucial for treatment decision making. With the aim of generating a clinically applicable molecular-based tool to classify IBD patients, we assessed whole transcriptome analysis on endoscopy samples. A total of 408 patient samples were included covering both internal and external samples cohorts. Whole transcriptome analysis was performed on an internal cohort of FFPE IBD samples (CD, n = 16 and UC, n = 17). The 100 most significantly differentially expressed genes (DEG) were tested in two external cohorts. Ten of the DEG were further processed by functional enrichment analysis from which seven were found to show consistent significant performance in discriminating CD from UC: PI3, ANXA1, VDR, MTCL1, SH3PXD2A-AS1, CLCF1, and CD180. Differential expression of PI3, ANXA1, and VDR was reproduced by RT-qPCR, which was performed on an independent sample cohort of 97 patient samples (CD, n = 44 and UC, n = 53). Gene expression levels of the three-gene profile, resulted in an area under the curve of 0.84 (P = 0.02) in discriminating CD from UC, and therefore appear as an attractive molecular-based diagnostic tool for clinicians to distinguish CD from UC.
AB - Differential diagnosis of inflammatory bowel disease (IBD) to Crohn's disease (CD) or ulcerative colitis (UC) is crucial for treatment decision making. With the aim of generating a clinically applicable molecular-based tool to classify IBD patients, we assessed whole transcriptome analysis on endoscopy samples. A total of 408 patient samples were included covering both internal and external samples cohorts. Whole transcriptome analysis was performed on an internal cohort of FFPE IBD samples (CD, n = 16 and UC, n = 17). The 100 most significantly differentially expressed genes (DEG) were tested in two external cohorts. Ten of the DEG were further processed by functional enrichment analysis from which seven were found to show consistent significant performance in discriminating CD from UC: PI3, ANXA1, VDR, MTCL1, SH3PXD2A-AS1, CLCF1, and CD180. Differential expression of PI3, ANXA1, and VDR was reproduced by RT-qPCR, which was performed on an independent sample cohort of 97 patient samples (CD, n = 44 and UC, n = 53). Gene expression levels of the three-gene profile, resulted in an area under the curve of 0.84 (P = 0.02) in discriminating CD from UC, and therefore appear as an attractive molecular-based diagnostic tool for clinicians to distinguish CD from UC.
KW - Humans
KW - Colitis, Ulcerative/diagnosis
KW - Crohn Disease/diagnosis
KW - Inflammatory Bowel Diseases
KW - Mucous Membrane/metabolism
KW - Receptors, Calcitriol/genetics
UR - http://www.scopus.com/inward/record.url?scp=85175080784&partnerID=8YFLogxK
U2 - 10.1038/s41598-023-45569-3
DO - 10.1038/s41598-023-45569-3
M3 - Journal article
C2 - 37891214
SN - 2045-2322
VL - 13
SP - 18421
JO - Scientific Reports
JF - Scientific Reports
IS - 1
M1 - 18421
ER -