rs12034383 - CR1

Magnitude 2.2 · 1 study on file

Reported associations

• Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. - American journal of human genetics (2011) · Kullo IJ, Ding K, Shameer K, McCarty CA, Jarvik GP, Denny JC, Ritchie MD, Ye Z, Crosslin DR, Chisholm RL, Manolio TA, Chute CG · PubMed 21700265

  The erythrocyte sedimentation rate (ESR), a commonly performed test of the acute phase response, is the rate at which erythrocytes sediment in vitro in 1 hr. The molecular basis of erythrocyte sedimentation is unknown. To identify genetic variants associated with ESR, we carried out a genome-wide association study of 7607 patients in the Electronic Medical Records and Genomics (eMERGE) network. The discovery cohort consisted of 1979 individuals from the Mayo Clinic, and the replication cohort consisted of 5628 individuals from the remaining four eMERGE sites. A nonsynonymous SNP, rs6691117 (Val→IIe), in the complement receptor 1 gene (CR1) was associated with ESR (discovery cohort p = 7 × 10(-12), replication cohort p = 3 × 10(-14), combined cohort p = 9 × 10(-24)). We imputed 61 SNPs

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