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Table 2 a) Small intestinal biopsy or b) Peripheral blood gene expression levels vs SNP. The analysis was stratified according to disease status and performed in the celiac disease group (n = 167) and control or potential celiac disease group (n = 235) separately

From: Genes involved in muscle contractility and nutrient signaling pathways within celiac disease risk loci show differential mRNA expression

 

Controls & PCD

Celiac disease

a. Small intestinal biopsy

Gene symbol

SNP ID

Allelesa

Fold change

p

Fold change

p (pc)

ADCY9b

rs882820

G:A

1.04 UP

0.67

1.21 DOWN

0.08

APPL2

rs10861406

G:A

1.01 DOWN

0.88

1.01 DOWN

0.79

GLSb,c

rs6741418

C:T

1.04 UP

0.71

1.47 DOWN

0.009

HSPB1

rs1019096

G:A

1.03 DOWN

0.77

1.05 DOWN

0.66

INSRb

rs7254060

G:A

1.05 DOWN

0.61

1.51 DOWN

0.003 (0.03)

KIF13A

rs9396802

C:T

1.11 DOWN

0.04

1.09 DOWN

0.22

NCALDb

rs652008

C:T

1.00 DOWN

0.97

1.24 DOWN

0.005 (0.05)

NTSb

rs11104365

C:T

1.02 UP

0.85

1.17 DOWN

0.33

PDK1b

rs4972810

G:A

1.03 DOWN

0.85

1.09 DOWN

0.71

PPP1R12Bc

rs12734338

T:C

1.02 UP

0.95

1.04 UP

0.42

PRR5L

rs10501156

C:A

1.07 DOWN

0.29

1.62 DOWN

0.92

b. Peripheral blood

Gene symbol

SNP ID

Allelesa

Fold change

p

Fold change

p

ADCY9b

rs882820

G:A

Low transcript quality

 

Low transcript quality

 

APPL2

rs10861406

G:A

1.02 UP

0.85

1.00 UP

0.97

GLSb,c

rs6741418

C:T

1.23 DOWN

0.18

1.31 DOWN

0.15

HSPB1

rs1019096

G:A

Low transcript quality

 

Low transcript quality

 

INSRb

rs7254060

G:A

1.10 UP

0.45

1.18 DOWN

0.43

KIF13A

rs9396802

C:T

1.07 DOWN

0.59

1.01 DOWN

0.97

NCALDb

rs652008

C:T

1.15 UP

0.29

1.03 DOWN

0.85

NTSb

rs11104365

C:T

Not expressed

 

Not expressed

 

PDK1b

rs4972810

G:A

Low transcript quality

 

Low transcript quality

 

PPP1R12Bc

rs12734338

T:C

Not expressed

 

Not expressed

 

PRR5L

rs10501156

C:A

1.22 DOWN

0.46

1.15 DOWN

0.64

  1. The p-values represent the association between gene expression and minor allele count using a linear regression model corrected for age and sex
  2. Significant associations are shown in bold type
  3. aMinor allele in bold type
  4. bGene with an eQTL effect in peripheral blood according to the Blood eQTL browser
  5. cGene located in celiac disease genome-wide significant region