Table 2 Single-variant association analyses with FHR-4 and FH levels for the eight AMD independently associated variants at the CFH locus from the IAMDGC study5.

From: Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration

IAMDGC association signal number (directiona)

dbSNP ID

Chr:positionb Major/minor allele (imputation R2)c

Cambridge MAF controls

Cambridge MAF cases

Cambridge Association with FHR-4 levelsd

β (SE) P

Cambridge Association with FH levelsd

β (SE) P

EUGENDA MAF controls

EUGENDA MAF cases

EUGENDA Association with FHR-4 levelsd

β (SE) P

EUGENDA Association with FH levelsd

β (SE) P

Meta-analysis Association with FHR-4 levels

β (SE) P

Meta-analysis Association with FH levels

β (SE) P

1.1 (−)

rs10922109 1:196,704,632

C/A (1.00)

0.415

0.208

−0.43 (0.05) 5.8 × 10−16

0.04 (0.01) 0.003

0.437

0.219

−0.42 (0.03)

3.3 × 10−35

0.02 (0.02) 0.318

−0.42 (0.03)

2.2 × 10−56

0.03 (0.01) 0.005

1.2 (+)

rs570618 1:196,657,064

G/T (1.00)

0.367

0.599

0.20 (0.05)

3.8 × 10−5

−0.004 (0.01) 0.783

0.354

0.572

0.24 (0.03)

3.0 × 10−12

0.01 (0.01) 0.669

0.23 (0.03)

1.6 × 10−16

0.0008 (0.01) 0.933

1.3 (+)

rs121913059 1:196,716,375

C/T (genotyped)

No T allele carriers

Only 1 case heterozygote carrier

Not analysed

Not analysed

No T allele carriers

No T allele carriers

Not analysed

Not analysed

Not meta-analysed

Not meta-analysed

1.4 (−)

rs148553336 1:196,613,173

T/C (genotyped)

0.020

0.002

0.28 (0.27) 0.287

−0.17 (0.07) 0.019

0.004

No C allele carriers

Not analysed

Not analysed

Not meta-analysed

Not meta-analysed

1.5 (+)

rs187328863 1:196,380,158

C/T (0.83)

0.010

0.047

0.31 (0.15) 0.038

−0.07 (0.04) 0.107

0.038

0.040

0.35 (0.10)

2.9 × 10−4

−0.07 (0.04) 0.089

0.34 (0.08)

2.8 × 10−5

−0.07 (0.03) 0.019

1.6 (−)

rs61818925 1:196,815,450

G/T (0.87)

0.399

0.276

−0.29 (0.06)

1.8 × 10−7

−0.01 (0.02) 0.642

0.393

0.315

−0.29 (0.04)

3.3 × 10−15

−0.06 (0.02)

4.3 × 10−4

−0.29 (0.03)

2.8 × 10−22

−0.03 (0.01) 0.005

1.7 (+)

rs35292876 1:196,706,642

C/T (genotyped)

0.005

0.016

−0.05 (0.23) 0.815

−0.11 (0.06) 0.090

0.008

0.025

0.32 (0.14) 0.019

0.04 (0.06) 0.517

0.22 (0.12)

0.057

−0.03 (0.04) 0.500

1.8 (+)

rs191281603 1:196,958,651

C/G (0.42)

0.009

0.007

0.11 (0.46) 0.812

−0.09 (0.13) 0.490

0.010

0.008

0.23 (0.25) 0.357

0.24 (0.11) 0.025

0.20 (0.22)

0.357

0.10 (0.08) 0.198

  1. MAF minor allele frequency, Chr chromosome, SE standard error, IAMDGC International Age-related Macular Degeneration Genomics Consortium.
  2. aDirection of association with AMD for the minor allele, as estimated in the IAMDGC study5.
  3. bChromosomal position is given according to the NCBI RefSeq hg19 human genome reference assembly. Bonferroni correction for multiple testing of 8 variants = 0.00625 (0.05/8).
  4. cImputation quality metric R2 as estimated in the IAMDGC study5.
  5. dWald tests using linear regression models adjusted for AMD status, sex, age, batch effects and the first two genetic principal components (as estimated within the IAMDGC study5).
Back to article page