rs547154
This is a upstream gene variant variant in the C2 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
age-related macular degeneration
B-cell lymphoma 6 protein measurement
▶ClinVar annotation
▶Research that mentions this SNP (3)
▶Single-Nucleotide Polymorphisms Associated With Age-Related Macular Degeneration and Lesion Phenotypes in the Comparison of Age-Related Macular Degeneration Treatments TrialsAssociationN=835Maureen G. Maguire et al.(2016)· JAMA Ophthalmology
Cross-sectional study of 835 CATT participants with neovascular AMD genotyped for SNPs in CFH, ARMS2, C3, LIPC, CFB, and C2. ARMS2 risk alleles were associated with larger total lesions (p=0.03) and increased intraretinal fluid (p=0.008); C3 risk alleles were associated with decreased intraretinal fluid (p=0.001) and retinal thickness (p=0.02); CFH risk alleles were associated with decreased total thickness (p=0.01).
▶Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E geneAssociationN=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.
▶Neovascular Age-Related Macular Degeneration and Its Association With LOC387715 and Complement Factor H PolymorphismAssociationN=222Shuler RK Jr et al.(2007)· Archives of Ophthalmology
A case-control study investigating whether AMD-associated genetic variants predict treatment response. In 170 dry AMD patients treated with antioxidant supplements, CFH Y402H (rs1061170) carriers had significantly lower response rates (51.7% heterozygous/homozygous vs 75% wild-type, p=0.005), while protective variants in C2 (rs9332739) and CFB (rs4151667, rs2072633) showed improved response. In 52 neovascular AMD patients treated with ranibizumab, ARMS2 A69S (rs10490924) carriers had worse outcomes (46.4% responders vs 87.5% wild-type, p=0.002).
About C2
Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]
View all C2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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