Table 3 Colocalization analysis results for selected genes.

From: Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals

       

Gene expression

eGFRcrea association

Locus ID

Signal ID

Gene

PP_H4

rsid

EA

OA

BETA

P

FDR

BETA

P

PPA

Expression in tubule-interstitial tissue

 k4.1

1

GALNTL5

0.987

rs10224210

C

T

0.67

1.0E-05

0.011

−0.0078

2.9E-139

0.50

 k21.2

2

TFDP2

0.001

rs58436159

T

C

−0.58

1.1E-05

0.012

−0.0051

1.6E-23

0.13

 k27.1

1

SLC6A13

0.995

rs11062102

C

T

−0.29

3.4E-07

6.6E-04

−0.0041

2.3E-47

0.47

 k88

1

TPPP

0.996

rs434215

A

G

0.57

7.4E-06

0.0087

−0.0039

6.4E-26

0.93

 k99.1

1

PPDPF

0.995

rs2314639

T

C

−0.47

1.0E-10

4.6E-07

−0.0035

5.0E-17

0.07

 k191.2

2

YY1AP1

0.993

rs4971092

T

C

−0.73

2.9E-05

0.025

−0.0027

1.0E-10

0.83

 n95.1

1

CPXM1

0.158

rs6084184

A

G

−0.43

5.1E-04

0.19

−0.0019

2.0E-08

0.07

Expression in glomerular tissue

 k4.1

1

GALNTL5

0.033

rs10224210

C

T

0.15

0.44

0.99

−0.0078

2.9E-139

0.50

 k21.2

2

TFDP2

0.035

rs2203002

T

C

0.22

0.0976

0.94

−0.0051

1.2E-23

0.14

 k27.1

1

SLC6A13

0.039

rs11062102

C

T

−0.11

0.12

0.95

−0.0041

2.3E-47

0.47

 k88

1

TPPP

0.043

rs434215

A

G

0.19

0.21

0.97

−0.0039

6.4E-26

0.93

 k99.1

1

PPDPF

0.998

rs72629024

G

C

−0.46

4.9E-07

0.0023

−0.0036

3.5E-18

0.85

 k191.2

2

YY1AP1

0.164

rs4971092

T

C

0.30

0.037

0.90

−0.0027

1.0E-10

0.83

 n95.1

1

CPXM1

0.731

rs6084180

T

C

−0.87

1.9E-09

1.8E-05

−0.002

1.3E-08

0.82

  1. For the seven genes with small 99% credible sets (<= 5 variants, among 23 highlighted genes from Table 2) that contain significant eQTLs in kidney tissue, we here show results from colocalization analysis between eGFRcrea association signals (n = 1,004,040) and gene expression signals for two types of kidney tissues from NEPTUNE (tubule-interstitial and glomerular tissue, n = 187). PP_H4 is the posterior probability of positive colocalization41. We also show the respective credible set variant with the smallest P value for gene expression and its association estimates for gene expression (NEPTUNE data) and eGFRcrea (GWAS data) (EA: effect allele, OA: other allele, BETA: genetic effect per EA, P: two-sided association P value based on Wald test, FDR: false-discovery-rate, PPA: posterior probability of association from variant-based fine-mapping). Locus/Signal ID: Identifier of identified locus/signal (“n” novel, “k” known; first integer indicating the locus, second integer the signal within the locus). Marked in bold are positive colocalizations (PP_H4 ≥80%) and significant eQTLs (FDR <5%).