rs2794520

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This is a intron variant variant in the CRP gene.

Key Literature Trait Associations

C-Reactive Protein Levels

The C allele at rs2794520 is consistently and strongly associated with higher serum C-reactive protein levels across multiple large-scale GWAS and meta-analyses. The largest study (Ligthart et al. 2018; n=204,402 Europeans) identified this variant at genome-wide significance with a beta of ~0.18 log-units increase per C allele (p≈4×10⁻⁵²³). Dehghan et al. 2011 confirmed the locus in >80,000 subjects across 15 European cohorts, and the association replicates in diverse non-European populations including African Americans, Hispanic/Latinos, and East Asians. The effect is directionally consistent across all ancestries studied, though effect sizes vary modestly by population.

Ligthart S et al. “Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.” American Journal of Human Genetics 103(5):691-706 (2018)

Allele C

OR —

β 0.182 ±0.004

p —

N 204,402

Large GWAS

European

Dehghan A et al. “Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.” Circulation 123(7):731-8 (2011)

Allele C

OR —

β 0.160

p 2.0e-186

N 82,725

Meta-analysisLarge GWAS

European

Choi CK et al. “No association between genetically predicted C-reactive protein levels and colorectal cancer survival in Korean: two-sample Mendelian randomization analysis.” Epidemiology and Health 45:e2023039 (2023)

Allele C

OR —

β 0.192 ±0.009

p 2.0e-106

N 59,738

Large GWAS

East Asian

Wojcik GL et al. “Genetic analyses of diverse populations improves discovery for complex traits.” Nature (2019)

Allele C

OR —

p 3.0e-22

N 49,839

Large GWAS

multi-ancestry

Sherman BT et al. “Genome-wide association study of high-sensitivity C-reactive protein, D-dimer, and interleukin-6 levels in multiethnic HIV+ cohorts.” Aids (london, England) 35(2):193-204 (2021)

Allele C

OR —

β 0.224 ±0.022

p 5.0e-24

N 7,768

Large GWAS

multi-ancestry

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GWAS Catalog Trait Associations (2)

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

C-reactive protein measurement

Allele C

OR 0.18

p —

N 206,158

Large GWAS

European

Dehghan A et al. “Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.” Circulation 123(7):731-8 (2011)

Allele C

OR 0.16

p 2.0e-186

N 66,185

Meta-analysisLarge GWAS

European

Allele C

OR 0.25

p 7.0e-200

N 47,258

Large GWAS

East Asian

Allele C

OR 0.22

p 5.0e-24

N 7,052

Large GWAS

multi-ancestry

inflammatory response

Sabatti C et al. “Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.” Nature Genetics 41(1):35-46 (2009)

Allele A

OR 0.47

p 3.0e-22

N 4,763

Large GWAS

European

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Research that mentions this SNP (3)

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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

PubMed DOI Metascience Observatory

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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

PubMed DOI Metascience Observatory

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Fine-mapping the genetic basis of CRP regulation in African Americans: a Bayesian approach

AssociationN=594Benjamin Rhodes et al.(2008)· Human Genetics

Fine-mapping study of C-reactive protein (CRP) regulation in 594 African Americans using dense SNP genotyping and Bayesian model selection. Found rs3091244(T) allele as the key functional variant regulating CRP expression with additive effects (Bayes factor >100), explaining 5.20% of CRP variance with β=0.312 (95% CI 0.146-0.491). Secondary analysis supported a two-SNP model including rs12728740, which segregated with European-origin haplotypes. The study demonstrates that weaker linkage disequilibrium in African Americans resolved genetic ambiguity seen in European populations.

rs2794520

Key Literature Trait Associations

C-Reactive Protein Levels

GWAS Catalog Trait Associations (2)

C-reactive protein measurement

inflammatory response

Research that mentions this SNP (3)

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