Skip to main content

Table 2 Genetic variants identified in ABCA4 sequence analysis in CQ-treated patients with (cases) and without (controls) toxic maculopathy

From: Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy)

  

Frequency in

  

Variant (NM_000350.2)

Amino acid exchange (NP_000341.2)

Cases

Controls

EUR †

Raw p-value

FDR #

c.324G > A

M114I

0.00

0.04

-

-

-

c.635G > A

R212H

0.06

0.08

0.06

-

-

c.1268A > G*

H423R

0.29

0.23

0.30

0.58783

0.58783

c.1269C > T

H423H

0.13

0.04

0.07

-

-

c.1622T > C

L541P

0.02

0.00

-

-

-

c.2588G > C

G863A

0.00

0.04

0.00

-

-

c.2828G > A

R943Q

0.04

0.12

0.04

-

-

c.3113C > T

A1038V

0.02

0.00

0.00

-

-

c.4203C > A

P1401P

0.00

0.04

-

-

-

c.4297G > A

V1433I

0.00

0.04

0.00

-

-

c.5603A > T

N1868I

0.06

0.08

0.07

-

-

c.5682G > C*

L1894L

0.13

0.38

0.26

0.02292

0.030

c.5814A > G*

L1938L

0.06

0.31

0.18

0.00722

0.014

c.5843C > T

P1948L

0.04

0.08

0.04

-

-

c.5844A > G*

P1948P

0.06

0.31

0.19

0.00722

0.014

c.6069T > C

I2023I

0.04

0.08

0.06

-

 

c.6148G > C

V2050L

0.02

0.00

0.00

-

-

c.6249C > T

I2083I

0.04

0.08

0.05

-

-

c.6282 + 7G > A

-

0.04

0.08

0.05

-

-

c.6285T > C

D2095D

0.08

0.15

0.10

-

-

c.6357A > G

E2119E

0.02

0.00

-

-

-

c.6730-3T > C

-

0.02

0.12

0.02

-

-

c.6764G > T

S2255I

0.02

0.12

0.02

-

-

  1. *Common variants (combined frequency in cases and controls > 11.6%).
  2. †Frequency in 267 European individuals obtained from the 1000 Genomes Project.
  3. #False discovery rate.
Back to article page

BMC Ophthalmology

ISSN: 1471-2415

Contact us