rs3737002
This is a protein-altering variant in the CR1 gene.
▶Research that mentions this SNP (1)
▶Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosisAssociationN=378Yanhan Deng et al.(2018)· Human Mutation
Targeted resequencing of 92 IPF-related genes in 253 Chinese sporadic IPF patients and 125 controls identified 2 pathogenic variants (TERT rs121918666, rs199422294) and 10 loss-of-function variants in 4.74% of cases. Burden tests revealed rare missense variants in CSF3R, DSP, and LAMA3 were significantly associated with IPF. Four common SNPs (rs3737002, rs2296160, rs1800470, rs35705950) showed significant associations, with a cumulative risk model showing that high-risk subjects had 3.47-fold increased risk (95%CI: 2.07-5.81, p = 2.34×10⁻⁶) compared to low-risk subjects.
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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