Table 1 Various SNVs in AGER gene and their association with diabetic retinopathy

1

Limei Liu, KunsanXiang et al. [47]

1999

156 type 2 diabetics

China

G82S (rs2070600)

“NM_001136.5:c.244G>A

NP_001127.1:p.Gly82Ser”

Not associated

2

Barry I. Hudson, Max H. Stickland et al. [42]

2001

215

[106 with DR

109 without DR]

Leeds, UK

1. -T429C (rs1800625)

“NG_029868.1:g.4658T>C

NC_000006.11:g.32152442A>G

NT_167244.1:g.3467183A>G”

2. -407 to -345 deletion

3. -T374A(rs1800624)

“NT_167249.2:g.3500817T>G

NC_000006.12:g.32184610A>G”

4. +20T/A

Not associated

Associated

Associated

Associated

3.

Govindasamy Kumaramanickavel, Vedam Lakshmi Ramprasad et al. [20]

2002

200

[100 with retinopathy

100 without retinopathy]

South Indian population at Sankara Netralaya Hospital , Chennai

G82S(rs2070600)

“NM_001136.5:c.244G>A

NP_001127.1:p.Gly82Ser”

Positively associated – low risk allele

4

XuJiXiong, XuBilin et al. [48]

2003

569 subjects

(212 non diabetics

357 type 2 diabetics–205 with DR and 152 without DR)

China

1. -T429C (rs1800625)

“NG_029868.1:g.4658T>C

NC_000006.11:g.32152442A>G

NT_167244.1:g.3467183A>G”

2. - T374A (rs1800624)

NT_167249.2:g.3500817T>G

NC_000006.12:g.32184610A>G

Not associated

Not associated

5

Keiji Yoshioka, Toshihide Yoshida et al. [49]

2005

268 diabetics

98 controls

Japan

1. G1704T (rs184003)

“NG_029868.1:g.6804G>T

NM_001136.4:c.822+49G>T”

2. G82S (rs2070600)

NM_001136.5:c.244G>A

NP_001127.1:p.Gly82Ser

Not associated

Not associated

6

S Ramprasad

V Radha et al. [24]

2006

149 normal glucose tolerant subjects and 379 type 2 diabetics

(189 DM without DR and 190 DM with DR)

South India

1. -T429C (rs1800625)

“NG_029868.1:g.4658T>C

NC_000006.11:g.32152442A>G

NT_167244.1:g.3467183A>G”

2. -T374A ( rs1800624)

“NT_167249.2:g.3500817T>G

NC_000006.12:g.32184610A>G”

Not Associated

Modest Association in NPDR group

7

B Fan, D.Y.Wang et al. [50]

2006

554 diabetics

[120: With PDR

208: With NPDR]

226: Without DR

Hong Kong, China

G1704T(rs184003) polymorphism coinheritance with CYBA-C242T

NG_029868.1:g.6804G>T

NM_001136.4:c.822+49G>T

Associated

8

Suganthalakshmi Balasubbu, Periasamy Sundaresan et al. [38]

2010

701

(345 with DR

356 without DR)

South Indian population at Aravind Eye Hospital, Madurai, Tamil Nadu, India, and National Eye Institute, NIH, Bethesda, MD.

1. G82S(rs2070600)

“NM_001136.5:c.244G>A

NP_001127.1:p.Gly82Ser”

2. -T374A (rs1800624)

“NT_167249.2:g.3500817T>G

NC_000006.12:g.32184610A>G”

3. -T429C(rs1800625)

“NG_029868.1:g.4658T>C

NC_000006.11:g.32152442A>G

NT_167244.1:g.3467183A>G

Associated

Not Associated

Not Associated

9

Zhi Xiang Ng, Umah Rani Kuppuswamy et al. [51]

2011

342 type 2 diabetics

(171 with retinopathy

171 without retinopathy

235 unrelated healthy controls)

Malaysia

1. -T429C(rs1800625)

“NG_029868.1:g.4658T>C

NC_000006.11:g.32152442A>G

NT_167244.1:g.3467183A>G”

2. -T374A (rs1800624)

“NT_167249.2:g.3500817T>G

NC_000006.12:g.32184610A>G”

Not associated

Not associated

10

Zhi Xiang Ng, Umah Rani Kuppuswamy et al. [40]

2011

342 type 2 diabetics

(171 with retinopathy

171 without retinopathy)

235 unrelated healthy controls

Malaysia

G2245A (rs55640627)

NG_029868.1:g.7344G>A

NM_001136.4:c.964+268G>A

Associated

11

Peipei Kang, Changwei Tian et al. [51]

2012

Meta-analysis of 29 articles

–

1. G82S(rs2070600),

NM_001136.5:c.244G>A

NP_001127.1:p.Gly82Ser

2. G1704T (rs184003),

NG_029868.1:g.6804G>T

NM_001136.4:c.822+49G>T

3. -T429C(rs1800625)

NG_029868.1:g.4658T>C

NC_000006.11:g.32152442A>G

NT_167244.1:g.3467183A>G

Not Associated

Not associated

Not associated

12

Dongqing Yuan, Donglan Yuan et al. [52]

2012

Meta-analysis

–

1. -T374A (rs1800624)

NT_167249.2:g.3500817T>G

NC_000006.12:g.32184610A>G

2. G82S(rs2070600)

NM_001136.5:c.244G>A

NP_001127.1:p.Gly82Ser

3. -T429C(rs1800625)

Protective

Associated

Not Associated

13

Z.X.Ng, U.R.Kuppusamy et al. [47]

2012

283

(98 with retinopathy and 185 unrelated healthy subjects)

Malaysia

1. G82S(rs2070600)

NM_001136.5:c.244G>A

NP_001127.1:p.Gly82Ser

2. G1704T (rs184003)

NG_029868.1:g.6804G>T

NM_001136.4:c.822+49G>T

3. A2184G (rs3134940)

Not associated

Not associated

Not associated

14.

Li Yang, Qunhong Wu et al. [53]

2013

1040 type 2 DM patients

372: With DR

668: Without DR

China

G82S (rs2070600)

NM_001136.5:c.244G>A

NP_001127.1:p.Gly82Ser

SS genotype was a risk factor for DR.

Associated

15

Weihong Yu, Jingyun Yang et al. [54]

2016

Meta-analysis

–

1. G82S(rs2070600)

“NM_001136.5:c.244G>A

NP_001127.1:p.Gly82Ser”

2. -T374A (rs1800624)

“NT_167249.2:g.3500817T>G

NC_000006.12:g.32184610A>G”

Associated

Associated

16

Jian Li, Wei Cai et al. [22]

2016

943 type 2 diabetics

285: Patients with DR

658: Patients without DR

China

1. A2184G (rs3134940)

“NG_029868.1:g.7284A>G

NM_001136.4:c.964+208A>G

NC_000006.11:g.32149816T>C

NT_167244.1:g.3464557T>C”

Not associated

17

Dan Tao, Xuancheng Mai et al. [55]

2017

Meta-analysis

China

2. -T374A (rs1800624)

“NT_167249.2:g.3500817T>G

NC_000006.12:g.32184610A>G”

Associated

18

Wen-Ying Fan, Hong Gu et al. [31]

2020

1461 diabetics

567 selected for genotyping

Diabetics with PDR: 97

Diabetics with NPDR: 217

Diabetics without retinopathy: 255

China

Promoter variant rs1051993

“NG_029868.1:g.3666G>T

NC_000006.11:g.32153434C>A

NT_167244.1:g.3468172C>A”

Associated