Table 1 Combined results of the 18 SNPs genotyped in stage 1, 2 and 3.

From: Genome Wide Association Study Identifies L3MBTL4 as a Novel Susceptibility Gene for Hypertension

chr

SNP ID

position

minor/major allele

gene

location

group

OR(95% CI)

P

1

rs12749808*

158065762

C/T

KIRREL

UTR

stage1

1.47 (1.15, 1.88)

1.315 × 10−4

      

stage2

1.09 (1.00, 1.18)

0.004

      

Jidong

1.02 (0.93, 1.12)

0.678

      

Shanghai

0.82 (0.69,1.02)

0.541

      

Shantou

0.99 (0.92, 1.06)

0.776

      

meta

1.03 (0.86, 1.20)

0.687

1

rs17367504

11862778

G/A

MTHFR

INTRON

stage2

1.42 (1.20, 1.67)

3.918 × 10−5

      

Jidong

1.20 (0.67, 2.17)

0.197

      

Shanghai

1.05 (0.93, 1.20)

0.404

      

Shantou

1.22 (1.03, 1.45)

0.009

      

meta

1.21 (1.09, 1.30)

3.810 × 10−4

1

rs880315

10796866

A/G

CASZ1

INTRON

stage2

0.88 (0.80, 0.96)

0.003

      

Jidong

0.98 (0.89, 1.08)

0.771

      

Shanghai

0.93 (0.86, 0.99)

0.009

      

Shantou

0.86 (0.80, 0.93)

0.000924

      

meta

0.91 (0.86, 0.95)

1.814 × 10−4

4

rs1458038

81164723

A/G

FGF5

UTR

stage2

1.30 (1.20, 1.42)

8.853 × 10−10

      

Jidong

0.96 (0.88, 1.06)

0.524

      

Shanghai

1.12 (1.05, 1.20)

0.005

      

Shantou

1.10 (1.03, 1.18)

5.235 × 10−5

      

meta

1.12 (1.01, 1.24)

0.037

4

rs16998073

81184341

A/T

FGF5

UTR

stage2

1.32 (1.21, 1.44)

1.799 × 10−10

      

Jidong

0.99 (0.90, 1.09)

0.847

      

Shanghai

1.14 (1.06, 1.22)

1.495 × 10−4

      

Shantou

1.12 (1.04, 1.20)

3.182 × 10−5

      

meta

1.14 (1.03, 1.26)

0.007

8

rs1799998

143999600

C/T

CYP11B2

UTR

stage2

0.80 (0.73, 0.87)

1.099 × 10−6

      

Jidong

1.04 (0.94, 1.16)

0.418

      

Shanghai

0.93 (0.86, 1.00)

0.048

      

Shantou

0.94 (0.87, 1.01)

0.469

      

meta

0.92 (0.84, 1.02)

0.166

9

kgp9568150*

66749500

A/G

C9orf98

INTRON

stage1

1.85 (1.31, 2.61)

4.385 × 10−4

      

stage2

0.82 (0.73, 0.92)

5.812 × 10−4

      

Jidong

1.03 (0.91, 1.17)

0.645

      

Shanghai

1.00 (0.91,1.10)

0.127

      

Shantou

1.01 (0.92, 1.11)

0.846

      

meta

1.03 (0.90, 1.18)

0.714

10

rs11191548

104846178

C/T

CYP17A1

UTR

stage2

0.85 (0.77, 0.93)

5.388 × 10−4

      

Jidong

0.92 (0.83, 1.02)

0.160

      

Shanghai

0.95 (0.87, 1.02)

0.345

      

Shantou

0.92 (0.85, 0.99)

0.027

      

meta

0.91 (0.85, 0.95)

7.584 × 10−5

10

rs1801253

115805056

C/G

ADRB1

CODING

stage2

0.89 (0.81, 0.98)

0.008

      

Jidong

1.01 (0.91, 1.13)

0.644

      

Shanghai

0.99 (0.91, 1.07)

0.363

      

Shantou

0.99 (0.92, 1.07)

0.564

      

meta

0.97 (0.92, 1.02)

0.251

11

rs12421938*

11422750

G/A

GALNT18

INTRON

stage1

0.63 (0.42, 0.96)

3.522 × 10−4

      

stage2

0.81 (0.71, 0.93)

0.002

      

Jidong

0.85 (0.73, 1.00)

0.051

      

Shanghai

0.91 (0.81, 1.01)

0.166

      

Shantou

1.12 (1.08, 1.23)

0.034

      

meta

0.89 (0.77, 1.02)

0.124

12

rs17249754

90060586

A/G

ATP2B1

INTERGENIC

stage2

0.85 (0.78, 0.92)

1.785 × 10−4

      

Jidong

0.99 (0.90, 1.10)

0.967

      

Shanghai

0.94 (0.88, 1.01)

0.139

      

Shantou

0.85 (0.79, 0.91)

8.582 × 10−4

      

meta

0.90 (0.84, 0.97)

0.007

12

rs2681472

90008959

C/T

ATP2B1

INTRON

stage2

0.87 (0.80, 0.95)

0.001

      

Jidong

1.01 (0.91, 1.11)

0.950

      

Shanghai

0.94 (0.87, 1.01)

0.157

      

Shantou

0.87 (0.81, 0.94)

4.243 × 10−4

      

meta

0.91 (0.85, 0.98)

1.443 × 10−5

12

rs2074356

112645401

T/C

HECTD4

INTRON

stage2

0.78 (0.69, 0.89)

1.632 × 10−4

      

Jidong

0.99 (0.86, 1.15)

0.920

      

Shanghai

0.92 (0.83, 1.01)

0.099

      

Shantou

1.03 (0.94, 1.13)

0.224

      

meta

0.93 (0.83, 1.04)

0.288

16

rs4243170*

79437209

A/G

LOC729251

INTERGENIC

stage1

0.59 (0.44, 0.78)

2.782 × 10−4

      

stage2

0.87 (0.79, 0.96)

0.005

      

Jidong

0.95 (0.85, 1.06)

0.379

      

Shanghai

0.95 (0.88, 1.03)

0.199

      

Shantou

0.98 (0.91, 1.06)

0.839

      

meta

0.88 (0.78, 1.00)

0.029

17

rs17225738*

5861557

A/G

NLRP1

INTERGENIC

stage1

0.63 (0.49, 0.82)

3.614 × 10−4

      

stage2

0.89 (0.81, 0.97)

0.008

      

Jidong

1.01 (0.91, 1.12)

0.655

      

Shanghai

1.02 (0.95, 1.09)

0.180

      

Shantou

0.99 (0.92, 1.06)

0.561

      

meta

0.91 (0.81, 1.02)

0.210

18

rs403814*

6282593

G/T

L3MBTL4

INTRON

stage1

1.39(1.01, 1.94)

4.699 × 10−4

      

stage2

1.24 (1.12, 1.36)

1.321 × 10−5

      

Jidong

1.14 (1.01, 1.29)

0.006

      

Shanghai

1.15 (1.06, 1.25)

0.003

      

Shantou

1.06 (0.98, 1.14)

0.177

      

meta

1.15 (1.07, 1.23)

6.128 × 10−9

23

rs2361159*

13681115

C/T

TCEANC

CODING

stage1

1.21 (1.12, 1.29)

2.813 × 10−4

      

stage2

1.10 (1.02, 1.15)

0.008

      

Jidong

1.20 (0.89, 1.52)

0.991

      

Shanghai

1.03 (1.01, 1.10)

0.034

      

Shantou

1.04 (0.98, 1.14)

0.383

      

meta

1.07 (1.02, 1.12)

0.002

23

rs5935649*

13681638

C/T

TCEANC

CODING

stage1

1.24 (1.10, 1.30)

4.687 × 10−4

      

stage2

1.11 (0.89, 1.09)

0.006

      

Jidong

1.21 (1.04, 1.55)

0.825

      

Shanghai

1.02 (1.00, 1.06)

0.021

      

Shantou

1.06 (0.97, 1.15)

0.226

      

meta

1.08 (1.03, 1.14)

7.911 × 10−4

  1. CHR, chromosome; OR, odds ratio; 95% CI, 95% confidence interval; stage 1, the genome-wide association study; stage 2, the follow-up study; stage 3, the replication study; meta, meta-analysis of stages 1, 2 and 3. SNPs with bold font are significantly associated with hypertension (P < 0.05). Newly identified loci are indicated by asterisks.
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