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Table 3 SNPs related to BP, chromosomal location, gene, allele, effect of that SNP and other associated traits

From: Cataloging the potential SNPs (single nucleotide polymorphisms) associated with quantitative traits, viz. BMI (body mass index), IQ (intelligence quotient) and BP (blood pressure): an updated review

SNP name

Chromosomal location

Gene

Allele

Effect

p value

Associated trait

Sample size

Method/study

References

rs4762

1q42.2

AGT

G > A

DBP

0.002

Diabetic nephropathy

2343/546

Candidate

[106]

rs5049

1q42.2

AGT

C > T

Elevate BP

0.00006

 

2343

Candidate

[107]

rs699

1q42.2

AGT

A > G

RAS system, vasoreactivity

< 0.0001

Diabetic nephropathy

Coronary heart disease

1245

Candidate

[107]

rs671

12q24.12

ALDH2

G > A

Increased BMI

3.4 × 10–11

Hypertension

757/7488–47,352.4204–5435

GWAS

[44, 66]

rs4680

22q11.21

COMT

G > A

Transfers methyl group to catecholamines, to inactivate

< 0.01

Weight gain/decreased SBP

165/6969

 

[59,60,61]

rs7138803

12q13.12

FAIM2

G > T

G > A

Increased BMI

0.015

WC, obesity, DBP

3077/249796

 

[54, 62]

rs9939609

16q12.2

FTO

T > A

Increasing BMI

2 × 10–7

T2D, Obesity, high BP

38,759

GWAS

(102]

rs17782313

18

MC4R

T > A

T > C

High BMI

< 0.05

BP, T2D

216

 

[25,26,27]

rs2266782

1q24.3

FMO3

G > A

Degrades catecholamines inactivate

3 × 10–11

Stroke, cardiac dysfunction

Renal failure

49

Candidate

[108]

rs17367504

1p36.22

MTHFR-NPPB

A > G

Protect against non-gestational hypertension

3.52 × 10–5

Proteinuria in pregnancy

1822

GWAS

[109]

rs10938397

4p12

GNPDA2

A > G

Increased BMI

0.00093

DBP, WC, waist-to-height ratio, and fat mass percentage

3077/3503

GWAS

[54]

rs5068

1p36.22

NPPA

A > G, T

Low BP

4 × 10–5

BMI, metabolic syndrome

 

Candidate

[30, 31]

rs653178

12

ATXN2

C > G

C > T

High BMI

5 × 10–7

DBP

 

GWAS

[56]

rs198358

1p36.22

NPPA-A1

T > C

Hypotension

2 × 10–4

BMI

1507

Candidate

[65, 31]

rs5186

3p21

AGTR1

A > C

Severity on glucose and lipid metabolism

0.0005

CVD, and metabolic syndrome liver disease

314

candidate

[110]

rs4961

4p16.3

ADD1

G > A, T

Body sodium variation/deleterious by having changes in the protein-coding region

1.09 × 10–6

Heart disease, stroke

1113

Candidate

[111]

rs11191580

10q24.33

NT5C2

T > C

Increased BMI

3.83 × 10–8

Schizophrenia

Bipolar disorder

Major depression

86,757/7488–47,354

 

[44]

rs1173771

5p13.3

NPR3-C5orf23

A > G

Elevate BP

3.26 × 10–25

Pulse pressure

Arterial pressure, BMI-adjusted hip circumference

140,886

GWAS

[112]

rs1799983

7q36.1

NOS3

T > A, G

EH

2.63 × 10–3

CAD, myocardial infarction and stroke

260

GWAS

(158]

rs2070744

7q36.1

NOS3

C > T

EH

6.42 × 10–4

CAD, Myocardial infarction and stroke

260

GWAS

[113]

rs1813353

10p12.31

CACNB2[3']

T > C

DBP

4 × 10–13

Heart disease diabetes

 

GWAS

[114]

rs6015450

20q13.32

GNAS-EDN3

A > G

SBP, DBP

0.59, 0.47

Stroke, CAD

787

GWAS

[115]

rs13333226

16p12.3

UMOD

A > G

Reduce urinary uromodulin excretion

3.6 × 10–11

CVD

39,706

GWAS

[116]

rs4373814

10p12.33

CACNB2[5']

G > C, T

Increased hypertension

9 × 10–9

 

1006

GWAS

[117]

rs2681472

12q21.33

ATP2B1

A > G

DBP

3.7 × 10–8

Metabolic syndrome, arterial stiffness

29,136

GWAS

[118]

rs932764

10p23.33

PLCE1

A > G

Elevate BP

7.1 × 10–16

CVD

200,000

GWAS

[119]

rs5443

12p13

GNB3

C > T

Enhanced G-protein activation

0.00002

Obesity, Diabetes

 

Candidate

[28]

rs3749585

4p12

CORIN

A > G

Low density lipoprotein

Cholesterol, higher risk of hypertension

0.029

 

808

High-resolution melting (HRM)

[120]

rs13306046

19p13.3

TBXA2R

C/T

Reduction in miR-induced repression of gene expression, decreased BP

 

Myocardial infarction

Decreased in BP

 

Dual luciferase reporter gene system

[121]

rs10757274

9p21

CDKN2B-AS1

A/G

Elevate BP

0.001

 

350

RT-PCR

[50]

rs2383207

9p21.3

CDKN2B-AS1

A/G

Increased fasting glucose level

0.001

Weight gain

350

RT-PCR

[50]

rs1333049

9p21.3

CDKN2A, CDKN2B

G/C

elevated systolic BP levels

0.047

 

350

R-PCR

[50]

rs11174811

12q14-15

AVPR1A

C > A

Increased BP

3 × 10–5

Myocardial infarction

  

[122]

rs4705342

5q32

CARMN; MIR143

T > C

T > G

Associated with the risk of EH

0.009

Diabetes mellitus

of ischemic stroke

343

TaqMan assay

[123]

rs17228616

7q22

ACHE, UFSP1

G > T

Minor allele shows elevated blood pressure

< 0.001

Anxiety, hypertension

 

GWAS

[124]

rs938671

17q21.2

ATP6V0A1

T > C

Hypertension

0.003

Hypertension risk

 

GWAS

[125]

rs2681492

12q21.33

ATP2B1

A; G/G; G

SBP, DBP

3 × 10–11

CVD, diabetes

2881

GWAS

[126]

rs8096897

18q21.2

C18or f1

 

SBP

3.2 × 10–11

 

29,136

GWAS

[118]

rs13107325

4p24

SLC39A8

 

High BP

< 0.05

BMI, intelligence

 

GWAS

[127]

rs3184504

12q24.12

SH2B3

T > A

T > C

T > G

SBP

DBP

5 × 10–7

Coronary heart disease, diabetes mellitus, BMR

29,136

GWAS

[118]

rs880315

1p36.22

CASZ1

T > C

T > G

SBP

2.1 × 10–7

Urinary albumin to creatinine ratio/ischemic stroke

600

GWAS

[128]

rs381815

11p15.2

PLEKHA7

T > C

SBP

5 × 10–7

Pulse pressure, arterial pressure

34,433

GWAS

[129]

rs7571613

2

C2or f88

A > G

SBP

7.2 × 10–7

 

8512

GWAS

[129]

rs7640747

3p22.2

ITGA9

C > G

SBP

4.8 × 10–7

 

8512

GWAS

[129]

rs11014166

10p12.31

CACNB2

A > T

DBP/SBP

8.7 × 10–7

 

29,136

GWAS

[118]

rs1119154

10q24.3

CYP17A1

C > T

SBP, DBP

0.002

 

4460

GWAS

[130]

rs11024074

11p15.2

PLEKHA7

T > C

SBP

3.76 × 10–2

 

8512

GWAS

[129]

ra11105354

12q21.33

ATP2B1

A > G

SBP

4 × 10–7

 

29,136

GWAS

[118]

rs12579302

12q21.33

ATP2B1

A > G

SBP

4 × 10–7

Coronary heart disease

29,136

GWAS

[118]

rs10757278

9p21.3

CDKN2A, CDKN2B

A > GA > C

A > T

Elevate BP

1 × 10–20

Coronary heart disease, diabetes, myocardial infarction, stroke, obesity

10,881

RT-PCR

[131, 50]

rs5225

14q32.2

BDKRB2

T > A

T > C

RAAS-related gene influence BP

 

Myocardial infarction, arterial pressure

890

SMILE

[121]

rs198358

1p36.22

NPPA-AS1

A > G

Increased circulating natriuretic peptide concentration

8 × 10–30

Obesity, heart failure risk

14,743

GWAS

[132]

rs1378942

15q24.1

CSK

C > A

C > T

Pulse pressure, arterial pressure

4.6 × 10–7

CVD

14,105

 

[133]

rs6265

11p14.1

BNDF

C > T

Decreased SBP

0.003

BMI, memory

8842

 

[134]

rs62011052

15q25.1

ADAMTS7

T/C

Angiotensin II stimulation induced renal expression

3 × 10–15

Heart disease, diabetes autoimmune disease pulse pressure

 

GWAS

[114]

rs17249754

12q21.33

ATP2B1

G > A

Increased hypertension, arterial stiffness

4.25 × 10–9

Pulse pressure, arterial pressure

8842

GWAS

[135]

rs11024102

11p15.2

PLEKHA7

T > A

T > C

DBP

5.33 × 10–12

Glaucoma

29,136

GWAS

[118]

rs2760061

1q42.13

WNT3A

T > A

Agent acting on the RAS system

2 × 10–16

CVD, SBP diabetes

318,664

GWAS

[136]

rs7129220

11p15.4

AMPD3 Intron variant

G/A

High BP

0.20

 

38,970

 

[65]

rs11953630

5q33.3

EBF1 Intergenic variant

C/A/T

Hypotension

< 0.0016

 

38,970

 

[65]

rs805303

6p21.33

BAG6 Intron variant

A/G/C

Hypotension

0.79

 

38,970

 

[65]

rs2286672

17p13.2

PLD2, Missense variant

C/T

Significantly decreased SBP recessively SBP

0.038

Systemic Lupus Erythematosus

8842

 

[134]

rs16835244

1

AZIN2

G > AG > T

Hypertension/SBP

0.002

 

8842

 

[134]

rs4963

4

ADD1

C > G

C > T

Hypertension

0.001

 

5097, 5937

 

[137]

rs2288774

18

NEDD4L

CC- or CT

SBP

0.01

 

4001

 

[103]

rs4149601

18

NEDD4L

G > A

DBP

0.03

 

4001 s

 

[103]

rs3794260

12

KIAA0789

G/A

Hypertension

0.0001

 

752 hypertensive and 752 normotensive subjects

 

[104]

rs9739493

12

KIAA0789

T/C

 

0.0001

 

752 hypertensive and 752 normotensive subjects

 

[104]

rs4757391

11p15.2

SOX6

T > C

DBP

5 × 10–9

 

11,816

GWAS

[138]