rs2794521

This is a upstream gene variant variant in the CRP gene.

Research that mentions this SNP (5)

Association between C‐reactive protein gene variant and treatment efficacy of etanercept in ankylosing spondylitis patients receiving hip arthroplasty
AssociationN=546Yuansheng Xu et al.(2020)· Journal of Clinical Laboratory Analysis

Case-control study of 232 HLA-B27-positive ankylosing spondylitis (AS) patients and 314 controls in a Chinese Han population. CRP gene rs3091244 polymorphism (G>A variant) was associated with increased AS risk (AA vs GG: OR 1.94, 95% CI 1.06-3.57, p=0.033). The AA genotype was also associated with better response to etanercept treatment (ASAS20: OR 3.39, p=0.016; ASAS40: OR 2.43, p=0.049) and higher baseline serum CRP levels (16.3 vs 8.8 mg/L for AA vs GG).

Traits studied:Ankylosing spondylitisC-reactive protein levelsEtanercept treatment response
Association of CRP genetic variants with blood concentrations of C‐reactive protein and colorectal cancer risk
AssociationN=1,454Nimptsch K. et al.(2015)· International Journal of Cancer

This Mendelian Randomization study examined whether CRP genetic variants associated with higher blood CRP concentrations are causally related to colorectal cancer risk in 727 cases and 727 controls from the EPIC cohort. Using CRP SNPs (rs1205, rs1800947, rs1130864, rs2808630, rs3093077) as instrumental variables, the authors found that genetically 2-fold higher CRP concentrations were associated with 74% higher colorectal cancer risk (OR 1.74, 95% CI 1.06–2.85) using the unweighted CRP-score, supporting a causal role for elevated CRP in colorectal carcinogenesis.

Traits studied:C-reactive protein concentrationColon cancerColorectal cancerRectal cancer
Genetic variation in C‐reactive protein in relation to colon and rectal cancer risk and survival
AssociationN=4,335Martha L. Slattery et al.(2011)· International Journal of Cancer

Population-based case-control study of 1574 colon cancer cases and 791 rectal cancer cases examining associations between CRP gene polymorphisms and colorectal cancer risk. The CRP rs1205 AA genotype was associated with increased colon cancer risk (OR 1.3, 95% CI 1.1-1.7), while rs3093075 A alleles were protective for rectal cancer (OR 0.7, 95% CI 0.5-0.9). Strongest associations were observed with specific tumor markers (KRAS2 mutations and CIMP+ phenotype), with significant interactions between CRP rs1800947 and BMI, and family history of colorectal cancer.

Traits studied:CIMP+ tumorsCancer survivalColon cancerColorectal cancer riskKRAS2 mutationsMicrosatellite instabilityRectal cancerTP53 mutations
Association of IL10 and Other immune response‐ and obesity‐related genes with prostate cancer in CLUE II
AssociationN=516Ming‐Hsi Wang et al.(2009)· The Prostate

Nested case-control study of 258 prostate cancer cases and 258 matched controls in the CLUE II prospective cohort examining genetic variants in inflammation and obesity-related genes. The IL10 -1082G>A variant (rs1800896, A allele) was positively associated with prostate cancer risk (AG vs GG: OR=1.69, 95% CI 1.10-2.60; AA vs GG: OR=1.81, 95% CI 1.11-2.96), while a TLR4 variant (rs4986790) showed inverse association, and no consistent associations were found for obesity-related gene variants.

Traits studied:Prostate cancer
The modifying effect of C‐reactive protein gene polymorphisms on the association between central obesity and endometrial cancer risk
AssociationN=2,081Wanqing Wen et al.(2008)· Cancer

Case-control study in a Chinese population (1,046 cases, 1,035 controls) examining six CRP gene SNPs and endometrial cancer risk. While CRP SNPs alone were not significantly associated with endometrial cancer, rs1130864 and rs2794520 were found to significantly modify the association between central obesity (WHR and waist circumference) and endometrial cancer risk, with stronger effects in premenopausal women (p<0.001 for WHR).

Traits studied:Endometrial cancer

About CRP

The protein encoded by this gene belongs to the pentraxin family which also includes serum amyloid P component protein and pentraxin 3. Pentraxins are involved in complement activation and amplification via communication with complement initiation pattern recognition molecules, but also complement regulation via recruitment of complement regulators. The encoded protein has a calcium dependent ligand binding domain with a distinctive flattened beta-jellyroll structure. It exists in two forms as either a pentamer in circulation or as a nonsoluble monomer in tissues. It is involved in several host defense related functions based on its ability to recognize foreign pathogens and damaged cells of the host and to initiate their elimination by interacting with humoral and cellular effector systems in the blood. Consequently, the level of this protein in plasma increases greatly during acute phase response to tissue injury, infection, or other inflammatory stimuli. Elevated expression of the encoded protein is associated with severe acute respiratory syndrome coronavirus 2 (SARS&#8208;CoV&#8208;2) infection. [provided by RefSeq, Aug 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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