rs3793917

This is a regulatory region variant variant in the HTRA1 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

age-related macular degeneration

Chen W et al. “Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.” Proceedings of the National Academy of Sciences of the United States of America 107(16):7401-6 (2010)

Allele G

OR 3.40

p 4.0e-60

N 3,307

Large GWAS

multi-ancestry

retinal layer thickness

Jackson VE et al. “Multi-omic spatial effects on high-resolution AI-derived retinal thickness.” Nature Communications 16(1):1317 (2025)

Allele G

OR 0.25

p 1.0e-12

N 43,148

Large GWAS

multi-ancestry

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Research that mentions this SNP (1)

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Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene

AssociationN=8,000Lars G. Fritsche et al.(2009)· Human Mutation

This cumulative PhD dissertation investigates genetic susceptibility factors for age-related macular degeneration (AMD). The study confirms weak associations of APOE coding variants with AMD risk (P < 0.05) but finds no association with HMCN1 variants. Large replication studies of candidate genes TLR3 and SERPING1 (1,080-4,881 cases and 2,669-2,842 controls) show no association. The authors identified 15 high-risk variants in ARMS2/HTRA1 region on chromosome 10q23.33-10qter, with the ARMS2 A69S variant showing 2.7-fold increased risk heterozygously and 8.2-fold increased risk homozygously, comparable in strength to CFH Y402H. An indel variant (c.*372_815del443ins54) in ARMS2 3' UTR causes mRNA destabilization.

Traits studied:Age-related macular degeneration (AMD)Choroidal neovascularizationGeographic atrophy (GA)

PubMed DOI Metascience Observatory

About HTRA1

This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]