rs1408077

This variant is located in the CR1 gene.

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GWAS Catalog Trait Associations (2)

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

dementia

“A genome-wide association meta-analysis of all-cause and vascular dementia.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 20(9):5973-5995 (2024)
Allele A
OR —
β 0.088
p 5.0e-10
N 524,852
Meta-analysisLarge GWAS
multi-ancestry

age of onset of Alzheimer disease

Li YJ et al. “Identification of novel genes for age-at-onset of Alzheimer's disease by combining quantitative and survival trait analyses.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 19(7):3148-3157 (2023)
Allele A
OR 0.94
p 6.0e-10
N 19,564
Large GWAS
European
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Research that mentions this SNP (2)

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Genetic Variation and Neuroimaging Measures in Alzheimer Disease
AssociationN=740Biffi A. et al.(2010)· Archives of Neurology

A case-control study of 740 individuals from the Alzheimer's Disease Neuroimaging Initiative investigated whether genome-wide association study (GWAS)-validated and GWAS-promising candidate loci influence magnetic resonance imaging measures and clinical Alzheimer's disease status. APOE showed the strongest association with clinical diagnosis (OR=2.07, p<1×10⁻⁶). Among previously validated non-APOE loci, only CR1 (rs1408077, OR=1.27, p=0.02) replicated. GWAS-promising variants at BIN1 (rs7561528, OR=1.29, p=0.03) and CNTN5 (rs10501927, OR=1.25, p=0.03) also showed significant associations with AD diagnosis, and a cumulative genetic risk score combining APOE, CLU, PICALM, CR1, BIN1, and CNTN5 variants predicted increased severity across multiple neuroimaging measures.

Traits studied:Alzheimer's diseaseAmygdala volumeEntorhinal cortex thicknessHippocampal volumeMild cognitive impairmentParahippocampal gyrus thicknessTemporal pole cortex thicknessWhite matter lesion volume
PubMedDOIMetascience Observatory
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Meta-analysis Confirms CR1, CLU, and PICALM as Alzheimer Disease Risk Loci and Reveals Interactions With APOE Genotypes
Meta-analysisN=15,239Jun G. et al.(2010)· Archives of Neurology

This meta-analysis of 7,070 Alzheimer's disease cases and 8,169 cognitively normal elderly controls from 12 independent cohorts confirms that variants in CR1, CLU, and PICALM are AD risk loci in European ancestry populations (CLU rs11136000 OR=0.91, CR1 rs3818361 OR=1.14, PICALM rs3851179 OR=0.89). The study reveals a synergistic interaction between PICALM and APOE ε4, with PICALM association predominantly observed in APOE ε4-positive subjects.

Traits studied:Alzheimer's diseaseLate-onset Alzheimer's disease
PubMedDOIMetascience Observatory

About CR1

This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the presence/absence of long homologous repeats (LHRs). The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in this gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimer's disease. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. [provided by RefSeq, May 2020]

View all CR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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