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Cardiovascular Disease Network

Friday, November 08, 2013 — Poster Session III

10:00 a.m. – 12:00 p.m.

FAES Academic Center (Upper-Level Terrace)




  • C Yao
  • B Chen
  • R Joehanes
  • A.D Johnson
  • Tx Huan
  • J.E Freedman
  • P.J Munson
  • D Levy


Cardiovascular diseases (CVD) reflect a highly coordinated complex of traits. Although numerous single nucleotide polymorphisms (SNPs) have been reported to be associated with CVD through genome-wide association studies (GWAS), it is still largely unknown how genetic variation contributes to the disease phenotypes. To address this knowledge gap, we built a CVD network using 1636 SNPs associated with 35 CVD traits (at P<5×10-8) from dbGaP and the NHGRI GWAS Catalog to cross-link different traits by virtue of their common SNP associations. We then explored the gene expression associations of CVD-related GWAS SNPs in 5257 individuals from the Framingham Heart Study. At FDR less than 0.05, we identified 278 cis-eQTLs (SNPs associated with altered gene expression) and 20 trans-eQTLs. We found that genes regulated by cis-eQTLs are highly associated with lipid metabolism, while trans-eQTL genes are highly enriched in guanylate binding proteins (GBP) on Chromosome 1. Searching for association of expression of eQTL transcripts with CVD phenotypes (glucose, HDL, LDL, blood pressure, etc) in the same samples, we show that the expression of eQTL transcripts is significantly associated with multiple CVD phenotypes, suggesting that a subset of common variants associated with CVD phenotypes may exert their function by altering expression of mRNA.

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