Skip to main content

Table 1 Summary of the basic information of TWAS studies in CD

From: Transcriptome-wide association studies associated with Crohn’s disease: challenges and perspectives

Year

GWAS data

 

eQTL

Methods

Associated tissue type

Association screening criteria

Country

Database

N

Country

Tissue type of RNA-seq

N

Diez-Obrero

et.al. [15]

Europe

IBD GWASs of European ancestries

IBD: 25,042 HC: 34,915

Spain (BarcUVa-Seq)

Europe (CEDAR)

Ascending colon

HC:138

S-PrediXcan

Ascending colon,

Transverse colon,

Descending colon

P Bonferroni < 0.05

Transverse colon

HC:143

Descending colon

HC:164

Uellendahl-Werth et. Al. [13]

15 countries cross Europe, North America, Australia

Ten case–control GWAS datasets

CD: 21,771 HC: 41,206

US (GTEx), Sweden (STARNET), UK (BLUEPRINT)

Small intestine

non‐IBD 77

UTMOST

Small intestine,

Sigmoid colon,

Transverse colon,

Whole blood,

CD14 + Monocytes,

CD16 + Neutrophils,

Naïve T cell

P Bonferroni < 0.05

Sigmoid colon

non‐IBD 124

Transverse colon

non‐IBD 169

Whole blood

non‐IBD:338

CD14 + Monocytes, CD16 + Neutrophils, Naïve T cell

non‐IBD 338

Kakuta et.al. [9]

Japan

CD GWASs of Japanese

CD: 713 HC: 2063

Japan

Intestines

active CD: 15 active UC: 5

GWAS-eQTL analysis

Effector memory T cells

from inflammation sites

Susceptibility:

P FDR < 0.05 Candidate: P FDR < 0.1

US (GTEx)

Sigmoid colon

HC: 203

FUSION

Sigmoid colon,

Transverse colon,

Small Intestine,

Whole blood,

EBV transformed lymphocytes

Transverse colon

HC: 246

Small Intestine

HC: 122

Whole blood

HC: 369

EBV transformed lymphocytes

HC: 117

Jung et.al. [10]

Korea

CD GWAS of Korean

CD: 899 HC: 3805

Korea

Peripheral blood

CD:101

FUSION

Whole blood

P Bonferroni < 0.05

Gettler et.al. [11]

Cross countries

15 GWAS of CD and/or UC

CD: 6299

HC: 15,148

America (GEO)

Terminal ileum

CD: 213, UC: 50, Unspecified IBD:4, HC: 35

COLOC

Terminal ileum

P FDR < 0.1

Dai et.al. [12]

Europe

IIIBDGC

CD: 5956

HC: 21,770

British

Whole blood

CD: 24 HC: 23

TESA MetaXcan

Terminal ileum

Whole blood

Spleen

FC ≥ 1.5 or ≤ 0.67 P Pascal < 0.05

Cheng et. al. [14]

Europe

IBD GWAS of European ancestries

CD: 18,405

UC: 14,308

HC: 34,241

Cross countries (GEO)

Intestinal

IBD: 134, non‐IBD: 134

FUSION

Sigmoid colon,

Transverse colon, Whole blood/ Peripheral blood,

Small Intestine terminal ileum

EBV transformed lymphocytes

P-value < 0.05 & FC > 1.5

Whole blood

IBD: 75, HC:12

Peripheral blood

HC:42, UC:26, CD:59

  1. CD Crohn’s disease, UC ulcerative colitis, IBD inflammatory bowel disease, HC healthy control, GWAS genome-wide association studies, TWAS transcriptome-wide association studies, eQTL expression quantitative trait loci; PGC Psychiatric Genomics Consortium, IIIBDGC International Inflammatory Bowel Disease Genetics Consortium, GEO Gene Expression Omnibus database, BarcUVa-Seq The University of Barcelona and University of Virginia RNA sequencing project; CEDAR correlated expression and disease association research, STARNET Stockholm-Tartu Atherosclerosis Reverse Networks Engineering Task study, S-PrediXcan Summary-PrediXcan, FC fold change