作者
Iftikhar J Kullo, Keyue Ding, Khader Shameer, Catherine A McCarty, Gail P Jarvik, Joshua C Denny, Marylyn D Ritchie, Zi Ye, David R Crosslin, Rex L Chisholm, Teri A Manolio, Christopher G Chute
发表日期
2011/7/15
期刊
The American Journal of Human Genetics
卷号
89
期号
1
页码范围
131-138
出版商
Elsevier
简介
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 in CR1, and a "possibly damaging" SNP (rs2274567, His→Arg) in linkage disequilibrium (r2 = 0.74) with rs6691117 …
引用总数
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IJ Kullo, K Ding, K Shameer, CA McCarty, GP Jarvik… - The American Journal of Human Genetics, 2011