||common in clinvar
- rs11200638 1.7x10-14 (-625G>A)is the most significant associated SNP with a high OR of 7.6 (95%CI: 3.94-14.51)
- rs2672598 3.0x10-10 (-487T>C)
- rs1049331 3.7x10-12 (102C>T, Ala34Ala)
- rs2293870 3.7x10-12 (108G>T, Gly36Gly)
- haplotype ACCTT, significantly predisposes to AMD (p= 6.68x10-14)
- smoking and rs800292 (184G>A, Val62Ile) of CFH.
- The combined OR for disease of smoking and rs11200638 (HTRA1) caused a 15.7 fold increased risk
- The combined OR for rs800292 and rs11200638 showed a 23.3 fold increased risk
- An extremely high population attributable risk (PAR) of 78% was also found.
[PMID 19796758] Comprehensive Analysis of Complement Factor H and LOC387715/ARMS2/HTRA1 Variants with Respect to Phenotype in Advanced Age-related Macular Degeneration
[PMID 19026761] Molecular pathology of age-related macular degeneration.
[PMID 20140183] Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.
[PMID 23644223] Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina
[PMID 24013816] Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis
[PMID 26310622] Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-β signaling