Risk estimates and risk differences of allele frequencies of AMD-associated SNPs and serum complement activation levels for advanced AMD based on family history.

<p>Risk estimates and risk differences of allele frequencies of AMD-associated SNPs and serum complement activation levels for advanced AMD based on family history.</p

Demographics in familial and sporadic individuals.

<p>Demographics in familial and sporadic individuals.</p

Risk estimates and risk differences of allele frequencies of AMD-associated SNPs and serum complement activation levels for all AMD grades based on family history.

<p>Risk estimates and risk differences of allele frequencies of AMD-associated SNPs and serum complement activation levels for all AMD grades based on family history.</p

Odds ratios for risk variants in <i>ARMS2</i> and <i>CFH</i> and the C3d/C3 ratio for development of AMD split by family history.

<p>The risk variant in <i>ARMS2</i> confers a strong risk for AMD in the sporadic group. In the group with a dense family history there is no effect of this SNP. The <i>CFH</i> Y402H risk allele is associated with AMD in all subgroups, irrespective of family history. In case of a dense family history, the Log C3d/C3 ratio is associated with AMD development. In the subgroups with a mild family history, this effect was not observed. OR = odds ratio; AMD = age-related macular degeneration; Sporadic = negative family history for AMD; Familial = positive family history for AMD; Dense familial = a positive family history for AMD satisfying 1 out of 3 criteria: (1) both parents have (possible) AMD, or (2) one affected parent and at least 25% of number of the sibs are affected, or (3) at least 50% of the number of sibs is affected; Mild familial = a positive family history for AMD but in a lesser extent, not meeting one of the 3 criteria.</p

Risk estimates and risk differences of allele frequencies of <i>ARMS2</i> and <i>CFH</i> SNPs and serum complement activation levels in mild and densely affected AMD families.

<p>Risk estimates and risk differences of allele frequencies of <i>ARMS2</i> and <i>CFH</i> SNPs and serum complement activation levels in mild and densely affected AMD families.</p

Overlapping rare sequence variants identified in seven of 289 candidate genes in affected members of CD families by WES.

Overlapping rare sequence variants identified in seven of 289 candidate genes in affected members of CD families by WES.</p

Recurrent missense variants identified in two of 289 candidate genes in 12 sporadic CD subtype of AMD cases by WES.

<p>Recurrent missense variants identified in two of 289 candidate genes in 12 sporadic CD subtype of AMD cases by WES.</p

Retinal images of 12 sporadic cuticular drusen (CD) cases for whom exome sequencing (WES) was performed.

<p>Panels A and B represent colour fundus photographs (1A-12A) and fluorescein angiograms (FAs) (1B-12B) of 12 cases respectively. For cases 1–5 retinal images of the right eye are shown, whereas for cases 6–12 retinal images of the left eye are shown. The CD phenotype presents with a large number of small and uniformly sized hyperfluorescent drusen on FA.</p

Demographics of studied subjects.

<p>EUGENDA: a multicenter database comprising participants from Germany and the Netherlands.</p

Genotyping of <i>C3</i> variants in EUGENDA and Rotterdam samples.

<p>Major and minor allele indicated in capital and lower case respectively, MAF: Minor allele frequency, ND: OR could not be determined, NA: Not applicable.</p><p>EUGENDA: a multicenter database comprising participants from Germany and the Netherlands.</p