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Articles by C. E Kim
Total Records ( 2 ) for C. E Kim
  T. P Cappola , M Li , J He , B Ky , J Gilmore , L Qu , B Keating , M Reilly , C. E Kim , J Glessner , E Frackelton , H Hakonarson , F Syed , A Hindes , S. J Matkovich , S Cresci and G. W. Dorn
 

Background— Heart failure results from abnormalities in multiple biological processes that contribute to cardiac dysfunction. We tested the hypothesis that inherited variation in genes of known importance to cardiovascular biology would thus contribute to heart failure risk.

Methods and Results— We used the ITMAT/Broad/CARe cardiovascular single-nucleotide polymorphism array to screen referral populations of patients with advanced heart failure for variants in 2000 genes of predicted importance to cardiovascular biology. Our design was a 2-stage case-control study. In stage 1, genotypes in Caucasian patients with heart failure (n=1590; ejection fraction, 32±16%) were compared with those in unaffected controls (n=577; ejection fraction, 67±8%) who were recruited from the same referral centers. Associations were tested for independent replication in stage 2 (308 cases and 2314 controls). Two intronic single-nucleotide polymorphisms showed replicated associations with all-cause heart failure as follows: rs1739843 in HSPB7 (combined P=3.09x10–6) and rs6787362 in FRMD4B (P=6.09x10–6). For both single-nucleotide polymorphisms, the minor allele was protective. In subgroup analyses, rs1739843 associated with both ischemic and nonischemic heart failure, whereas rs6787362 associated principally with ischemic heart failure. Linkage disequilibrium surrounding rs1739843 suggested that the causal variant resides in a region containing HSPB7 and a neighboring gene, CLCNKA, whereas the causal variant near rs6787362 is probably within FRMD4B. Allele frequencies for these single-nucleotide polymorphisms were substantially different in African Americans (635 cases and 714 controls) and showed no association with heart failure in this population.

Conclusions— Our findings identify regions containing HSPB7 and FRMD4B as novel susceptibility loci for advanced heart failure. More broadly, in an era of genome-wide association studies, we demonstrate how knowledge of candidate genes can be leveraged as a complementary strategy to discern the genetics of complex disorders.

  T. H Shaikh , X Gai , J. C Perin , J. T Glessner , H Xie , K Murphy , R O'Hara , T Casalunovo , L. K Conlin , M D'Arcy , E. C Frackelton , E. A Geiger , C Haldeman Englert , M Imielinski , C. E Kim , L Medne , K Annaiah , J. P Bradfield , E Dabaghyan , A Eckert , C. C Onyiah , S Ostapenko , F. G Otieno , E Santa , J. L Shaner , R Skraban , R. M Smith , J Elia , E Goldmuntz , N. B Spinner , E. H Zackai , R. M Chiavacci , R Grundmeier , E. F Rappaport , S. F.A Grant , P. S White and H. Hakonarson
 

We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly of Caucasians (65.2%) and African-Americans (34.2%), was analyzed for CNVs in a single study using a uniform array platform and computational process. We have catalogued and characterized 54,462 individual CNVs, 77.8% of which were identified in multiple unrelated individuals. These nonunique CNVs mapped to 3272 distinct regions of genomic variation spanning 5.9% of the genome; 51.5% of these were previously unreported, and >85% are rare. Our annotation and analysis confirmed and extended previously reported correlations between CNVs and several genomic features such as repetitive DNA elements, segmental duplications, and genes. We demonstrate the utility of this data set in distinguishing CNVs with pathologic significance from normal variants. Together, this analysis and annotation provides a useful resource to assist with the assessment of CNVs in the contexts of human variation, disease susceptibility, and clinical molecular diagnostics.

 
 
 
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