Table 2 Mendelian randomization studies in ophthalmology

Lim et al. 2009 [20]

BMI

Any,

Cortical,

Nuclear, PSC

Singapore Malay Eye Study

3000

10 SNPs

One-sample MR

Any: 1.17 (1.00, 1.37)

Cortical: 1.33 (1.11, 1.58)

Nuclear: 1.00 (0.87, 1.16)

PSC: 0.86 (0.70, 1.07)

Sharma et al. 2013 [28]

CFH

AMD

PGIMER

176

rs1061170

One-sample MR

NA

Shen et al. 2016 [100]

T2D;

Pancreatic β-cell function

Glaucoma

GERA

80,953

39 SNPs

Separate-sample

genetic instrumental variable analyses

T2D: 2.53 (1.04, 6.11)

Pancreatic β-cell function:

5.26 (1.75, 15.85)

Li et al. 2016 [172]

SBP

DBP

MAP

CRAE

CRVE

A multi-ethnic cohort in Singapore

6258

GRS

Bidirectional MR

SBP-CRAE: − 1.3 (− 2.8, 0.3)

SBP-CRVE: − 1.0 (− 3.7, 1.7)

DBP-CRAE: − 4.5 (− 7.9, -1.0)

DBP-CRVE: − 2.3 (− 7.4, 2.7)

MAP-CEAE: − 2.6 (− 5.2, 0.01)

MAP-CRVE: 0.2 (− 3.6, 4.0)

Cuellar-Partida et al. 2016 [57]

Education

Myopia

AREDS

BMSE

KORA

5649

PRS

TSLS

AREDS: − 1.33 (0.42)

BMSE: − 0.87 (0.71)

KORA: − 0.64 (0.45)

Cuellar-Partida et al. 2017 [64]

Serum vitamin D level

Myopia

CREAM

37,382;

8376

4 SNPs

One-sample MR

Caucasians: -0.02 (-0.09, 0.04)

Asians: 0.01 (-0.17, -0.19)

Sobrin et al. 2017 [141]

Plasma lipid levels

Any DR + severe DR

18 GWASs on DR; GLGC + AGEN

2969 + 

4096;

1277 + 

3980

157 + 

51 SNPs

Two-sample MR

Severe DR:

HDL-C: 0.98 (0.74, 1.31)

LDL-C: 0.95 (0.39, 2.36)

TG: 0.84 (0.33, 2.12)

Any DR:

HDL-C: 0.91 (0.67, 1.23)

LDL-C: 0.95 (0.91, 6.87)

TG: 1.00 (0.86, 1.15)

Burgess et al., 2017 [47]

HDL-C

AMD

GLGC + IAMDGC

16,144

 + 17,832

86 SNPs

Two-sample MR

1.22 (1.03, 1.44)

Fan et al. 2017 [48]

HDL-C

Advanced

AMD

IAMDCG + GAMA

16,144 + 17,832;

2219 + 5275

96 SNPs

Two-sample MR

Three models:

1.30 (1.09, 1.55)

1.21 (1.11, 1.31)

1.17 (1.07, 1.29)

Mountjoy et al. 2018 [60]

Education

Myopia

23andMe; SSGAC;

UKBB

67,798

44SNPs

69SNPs

Bidirectional, two-sample MR

Time spent in education-RE: − 0.270 (− 0.368, 0.173)

RE-Time spent in education: -0.008 (-0.041, 0.025)

Hysi et al. 2019 [103]

O-methylasorbate levels

IOP

EPIC

UKBB

103,382

13 SNPs

Two-sample MR

UKBB: − 0.696 (0.304)

EPIC: − 3.219 (1.371)

Tan et al. 2019 [21]

obesity

cortical, nuclear, PSC

BMES

3654

rs 9,939,609

Two-stage MR

Cortical: 1.31 (0.86, 1.99)

Nuclear: 1.04 (0.65, 1.68)

PSC: 1.42 (0.75, 2.69)

Wood et al. 2019 [53]

RE

AMD

UKBB; IAMDGC

16,144 + 17,832

126 SNPs

Two-sample MR

1.080 (1.021, 1.142)

Tideman et al. 2019 [69]

Birth height

BW

AL;

CR;

AL/CR

A population-based prospective birth cohort

3880

GRS

Two-stage least square method

Height-AL: 0.046 (0.016)

BW-AL: − 0.023 (0.011);

Height-CR: 0.026 (0.006)

BW-CR: − 0.013 (0.004);

Height-AL/CR: − 0.004 (0.002)

BW-AL/CR: 0.002 (0.001)

Emanuelsson et al. 2019 [150]

LDL-C

retinopathy

CCHS + CGPS; GLGC + UKBB

109,102

408,455

11SNPs

45SNPs

One-sample MR; two-sample MR

One-sample MR:

1.06 (0.24–4.58)

Two-sample MR:

0.83 (0.44, 1.56)

Emanuelsson et al. 2020 [5]

Glucose levels

retinopathy

CCHS + CGPS; MAGIC + UKBB

114,994

452,264

7SNPs

26SNPs

One-sample MR;

Two-sample MR

One-sample MR:

2.01 (1.18, 3.41)

Two-sample MR:

4.55 (2.26, 9.15)

Plotnikov et al. 2020 [73]

BW

RE

UKBB

39,658

Allele score

One-sample MR

0.28 (0.05, 0.52)

Xu et al. 2020 [107]

LDL-C HDL-C TG

POAG

GLGC; UKBB

463,010

185 SNPs

Two-sample MR

LDL-C: − 0.00026 (− 0.00062, 0.00011)

HDL-C: 0.00023 (− 0.00015, 0.00061)

TG: -0.00028(− 0.00071, 0.00015)

Simcoe et al. 2020 [123]

IOPcc

CH; CRF

UKBB

108,480

144SNPs

166SNPs

99SNPs

96SNPs

One-sample MR

CH-IOPcc:-0.128 (0.024)

CRF-IOPcc: 0.31 (0.021);

IOPcc-CH: -0.154 (0.009);

IOPcc-CRF: 0.137 (0.01)

Choquet et al. 2020 [132]

CCT

POAG

IGGC; GERA

44,039

26SNPs

Two-sample MR

1.00 (1.00)

Huang et al. 2020 [147]

APN

DR

TWB; CMUH

438 + 

813

47SNPs

16SNPs

5SNPs

Two-sample MR

GRS_ALL: 0.61 (0.10, 1.13)

GRS_Limited: 0.57 (− 0.06, 1.21)

GRS_APN: 0.20 (-0.46, 0.85)

Han et al. 2020 [86]

RE

IOP

RRD

UKBB

4257 + 

39,181

224SNPs

99SNPs

Two-Sample MR; multivariable MR

RE: 0.72 (0.69, 0.76)

IOP: 1.08 (1.03, 1.14)

Han et al. 2020 [30]

CPR

AMD

UKBB; IAMDGC

12,711 + 

14,590

526SNPs

Two-sample MR

1.31 (1.19, 1.44)

Han et al. 2021 [6]

Eight major serum lipid biomarkers

Advanced AMD;

Intermediate AMD

UKBB; IAMDGC

12,711 + 

5336 + 

14,590

64-407SNPs

Two-sample MR

HDL-C-Advanced AMD: 1.19 (1.07, 1.33)

LDL-C-Advanced AMD:

0.87 (0.76, 1.00)

TG-Advanced AMD: 0.81 (0.72, 0.90)

TG-Intermediate AMD:

0.74 (0.66, 0.83)

Lp(a)-Advanced AMD:

1.00 (0.89, 1.12);

Lp(a)-Intermediate AMD: 0.96 (0.85, 1.09) et al

Patasova et al. 2021 [77]

Medication-Taking

RE

UKBB

102,318

447SNPs

One-sample MR

IOP-lowering drugs-RE:

− 0.043 (− 0.064, − 0.022)

Chronic multisite pain-RE: 0.210 (0.115, 0.287)

et al

Kim et al. 2021 [127]

Coffee intake

IOP

UKBB

92,699

8SNPs

Two-sample MR

0.12 (-0.14, 0.39)

Nusinovici et al. 2021 [110]

HDL-3

POAG

SEED; IGGC

10,033

4SNPs

Two-sample MR

0.91 (0.84, 0.98)

Yang et al. 2021 [133]

Gene expression

CCT

CAGE eQTL + 

GTEx eQTL summarised data

2765

 + 338

12 + 6SNPs

SMR

NA

Currant et al. 2021 [138]

IOP,

RNFL GCIPL

POAG

IOP

UKBB; IGGC

31,434

46

127

68

Bidirectional two-sample MR

IOP-POAG: 0.55 (2.80E-85)

GCIPL and RNFL meta-POAG: -0.22 (0.10)

POAG-GCIPL: -0.16 (0.09)

et.al

Zhong et al. 2021 [7]

Circulating 25(OH)D levels

Behçet

Chinese cohort

Turkish cohort

999 + 1585;

1215 + 1278

4

MR-IVW

3.96 (1.72, 9.13)

Zhong et al. 2021 [164]

Tuberculosis

Behçet

Chinese cohort

Japan cohort

999 + 1585 + 4417;

611 + 737

5

Two-sample MR

1.26 (1.12, 1.43)

Bonelli et al. 2021 [167]

Metabolites, T2D and retinal vasculature

MacTel

23 participating clinical centres

476 + 17,33

mPRS; tPRS

Two-sample MR

Serine: 0.52 (0.46, 0.58)

Bonelli et al. 2021 [168]

Metabolites; retinal vascular calibre;

T2D; macular thickness

MacTel

23 participating clinical centres

1067 + 

3799

PRS

Two-sample MR

Serine:0.55

Glycine:0.81

Alanine:1.16