PMID 21909106 2011 In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we identified two new susceptibility loci for exudative AMD: TNFRSF10A-LOC389641 on chromosome 8p21 (rs13278062, combined P = 1.03 × 10(-12), odds ratio = 0.73) and REST-C4orf14-POLR2B-IGFBP7 on chromosome 4q12 (rs1713985, combined P = 2.34 × 10(-8), odds ratio = 1.30).
PMID 28703135 2017 We confirmed the association of age-related maculopathy susceptibility 2 (ARMS2) rs10490924 (P=7.38 × 10<sup>-17</sup>), HTRA1 rs11200638 (P=5.47 × 10<sup>-17</sup>) and complement factor H gene (CFH) rs800292 (P=2.53 × 10<sup>-8</sup>) with neovascular AMD, all loci passing the genome-wide significance level (P<5.22 × 10<sup>-8</sup>).
PMID 20861866 2010 Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
PMID 23577725 2013 Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
rs800292 in
CFH gene and
Exudative age-related macular degeneration
PMID 28703135 2017 Genome-wide association study of neovascular age-related macular degeneration in the Thai population.
rs800292 in
CFH gene and
Matrix Metalloproteinase 8 Measurement
PMID 29212897 2017 In functional experiments, activation of the alternative pathway of complement in the carriers of rs800292 minor allele (Ile62 in factor H) led to decreased release of MMP-8 from neutrophils compared with the major allele (Val62 in factor H).
rs800292 in
CFH gene and
Myeloperoxidase Measurement
PMID 23620142 2013 A locus on chromosome 1q31.1 containing the complement factor H (CFH) gene was strongly associated with serum MPO levels in 9305 subjects of European ancestry (lead SNP rs800292; P = 4.89 × 10(-41)) and in 1690 AA subjects (rs505102; P = 1.05 × 10(-8)).
rs800292 in
CFH gene and
exudative macular degeneration
PMID 28703135 2017 Genome-wide association study of neovascular age-related macular degeneration in the Thai population.
rs800292 in
CFH gene and
von Willebrand's factor (lab test)
PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.