Table 1 The list of previously unreported lead variants at the 41 genome-wide significant (p < 5 × 10−8) loci that were associated with LDH in the meta-analysis (80 724 cases, 748 975 controls) and five previously unreported loci associated with LDH related surgical operations in sensitivity analysis that were performed in FinnGen (7347 cases, 270 964 controls)

From: Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

Locus

Candidate gene

CHR: POS

rsid

EA

OA

OR (95CI)

p-value

EAF

Het pval

Fin En.

Ref

Meta-analysis (FinnGen, EstBB, UKBB)

1p36.12

ALPL

1:21559185

rs150211890

G

T

1.07 (1.05–1.10)

2.5e − 08

0.05

0.18

2.6

 

1p13.2

NGF

1:115310363

rs4644491

A

G

0.96 (0.95–0.98)

6.78e − 09

0.63

0.22

1.0

 

1q41

TGFB2

1:218924545

rs779040

C

G

0.97 (0.95–0.98)

7.13e − 09

0.55

0.02

1.0

 

1q41

HHIPL2

1:222541797

rs35455442

A

C

0.96 (0.94–0.97)

3.96e − 13

0.33

0.54

1.3

 

2q33.3

GPR1

2:206137590

rs78826721

G

A

0.94 (0.92–0.96)

2.85e − 09

0.11

0.17

1.2

 

3p21.31

HYAL2

3:50380254

rs41308273

A

T

0.92 (0.89–0.94)

1.02e − 10

0.05

0.50

2.4

 

3p13

PDZRN3

3:73200973

rs11914834

T

C

0.97 (0.96–0.98)

4.85e − 08

0.44

0.98

1.1

 

3q21.1

ADCY5

3:123568959

rs1965290

C

T

0.97 (0.95–0.98)

2.67e − 08

0.55

0.04

1.1

 

3q22.3

NCK1

3:136490708

rs13321721

G

A

1.04 (1.03–1.06)

4.49e − 09

0.24

0.82

1.1

BP12

3q25.32

SHOX2

3:158478549

rs5853827

ATCC

A

0.96 (0.95–0.98)

1.55e − 08

0.33

0.49

0.9

 

4q22.1

IBSP

4:87779677

rs10019020

A

G

1.04 (1.02–1.05)

4.07e − 09

0.49

0.44

0.9

 

5q31.3

HDAC3

5:141735121

rs5871786

G

GT

0.97 (0.96–0.98)

4.71e − 08

0.44

0.73

1.0

 

5q35.1

FGF18

5:171413500

rs4302608

G

A

0.97 (0.95–0.98)

2.61e − 08

0.55

0.90

1.0

 

6p22.2

TRIM38

6:26276422

rs9393692

G

A

0.97 (0.95–0.98)

4.46e − 08

0.58

0.83

1.2

 

6p22.1

HLA

6:29873925

rs1611653

C

G

1.04 (1.03–1.06)

1.98e − 09

0.58

0.22

0.9

 

6p21.33

HLA

6:31279637

rs2844608

T

C

0.96 (0.94–0.97)

1.58e − 13

0.39

0.02

1.1

 

6q14.3

TBX18

6:84938145

rs2224214

T

C

1.04 (1.03–1.06)

2.33e − 12

0.37

0.67

1.0

 

7q11.23

ELN

7:73714641

rs10227463

T

C

0.97 (0.95–0.98)

1.82e − 08

0.41

0.77

1.2

 

7q32.2

ZC3HC1

7:130023656

rs11556924

T

C

1.04 (1.02–1.05)

3.48e − 08

0.36

0.29

0.8

 

7q33

STMP1

7:135418700

rs2551776

T

C

0.97 (0.95–0.98)

2.48e − 08

0.64

0.32

1.1

 

9p21.3

TUSC1

9:25398495

rs7019841

G

A

0.96 (0.95–0.98)

3.34e − 09

0.54

0.70

1.0

 

9q31.3

LPAR1

9:110930238

rs10980637

T

C

1.05 (1.03–1.06)

3.28e − 08

0.13

0.40

1.9

 

9q34.11

DNM1

9:128236873

rs9644952

A

C

1.04 (1.03–1.05)

3.3e − 08

0.22

0.81

1.1

 

10p15.1

AKR1C1

10:4989436

rs536435747

AC

A

0.94 (0.93–0.96)

5.02e − 11

0.13

0.51

1.2

 

10q26.13

HTRA1

10:122475088

rs2672590

C

A

0.95 (0.94–0.97)

1.2e − 10

0.24

0.52

0.9

BP16

11q13.3

MYEOV

11:69208032

rs144549742

A

T

0.91 (0.88–0.94)

3.66e − 11

0.04

0.50

2.8

 

11q23.1

SIK2

11:111459420

rs77651758

T

C

0.92 (0.90–0.95)

1.32e − 10

0.05

0.67

2.1

 

12q14.1

GLI1

12:57825898

rs871871

A

G

0.96 (0.95–0.97)

7.98e − 10

0.35

0.64

1.3

 

12q24.31

KMT5A

12:123226288

rs1626703

C

A

1.04 (1.03–1.06)

1.55e − 09

0.75

0.58

1.0

 

13q21.2

DIAPH3

13:59904471

rs340208

T

A

1.04 (1.02–1.05)

3.98e − 08

0.70

0.45

1.1

 

17q22

CA10

17:52164544

rs59704663

A

G

1.48 (1.34–1.61)

1.29e − 08

0.003

0.16

0.1

BP12

18q11.2

NPC1

18:23557478

rs1788760

G

A

0.97 (0.95–0.98)

4.62e − 08

0.67

0.89

1.0

 

18q12.3

SETBP1

18:44571296

rs8088824

T

C

0.95 (0.94–0.96)

3.76e − 12

0.78

0.19

1.1

 

18q21.2

DCC

18:53189047

rs17487130

T

C

1.06 (1.04–1.07)

4.16e − 14

0.40

0.86

0.9

BP12,13,16,54

19p13.12

TECR

19:14533044

rs11671111

T

C

0.96 (0.95–0.98)

1.56e − 08

0.25

0.77

1.6

 

19q13.42

LENG8

19:54471384

rs2287822

A

G

1.04 (1.02–1.05)

1.05e − 08

0.30

0.39

1.3

 

21q22.11

SLC5A3

21:33662166

rs3827180

A

G

1.04 (1.03–1.05)

2.48e − 09

0.28

0.10

1.3

 

Xp22.11

PCYT1B

23:24653216

rs5944665

A

G

0.97 (0.96–0.98)

3.36e − 08

0.60

0.93

NA

 

Xq21.1

ITM2A

23:79455466

rs191015078

T

C

1.05 (1.03–1.07)

4.85e − 08

0.12

0.54

NA

 

Xq21.1

Empty

23:82687578

rs111872003

A

T

0.92 (0.89–0.95)

3.11e − 08

0.04

0.18

NA

 

Xq23

CHRDL1

23:110640115

rs7884700

G

A

1.04 (1.03–1.05)

9.64e − 12

0.40

0.44

NA

 

Surgical GWAS (FinnGen)

1p21.1

COL11A1

1:102875067

rs1318756

C

T

1.10 (1.07–1.13)

2.41e − 08

0.53

-

1.1

 

2p13.3

TGFA

2:70465425

rs3732247

T

C

0.88 (0.85–0.92)

2.69e − 11

0.35

-

1.2

 

7p21.1

TWIST1

7:19508326

rs6944632

G

A

0.91 (0.88–0.94)

2.05e − 08

0.61

-

0.9

 

12p12.1

SOX5

12:23823019

rs11834104

T

G

1.14 (1.10–1.18)

5.82e − 09

0.23

-

0.9

 

17q24.3

SOX9

17:71514369

rs7225015

C

A

0.89 (0.86–0.93)

8.67e − 10

0.29

-

0.9

 
  1. Candidate gene, a gene at a previously unreported locus the biological function of which is likely to explain the LDH association, CHR: POS, chromosome and position (genome build hg38), rsid, SNP markers identification number; EA effect allele, OA other allele; OR (95 CI), odds ratio and it’s 95% confidence interval; p-value, EAF effect allele frequency; Het pval, p-value for heterogeneity; Fin En. enrichment in Finns (calculated FIN AF/NFEE AF in the Genome Aggregation Database [gnomAD], FIN AF is the allele frequency in Finns and NFEE AF is the allele frequency in Europeans (does not include Finns or Estonians)), NA not available, Ref, reference article in which a back related disease association other than LDH was observed +/− 1 Mb in the vicinity of the lead variant, BP back pain.
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