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Genome-wide association analysis identifies susceptibility loci for carotid intima-media thickness among African Americans

Monday, September 22, 2014 — Poster Session II

4:00 p.m. – 6:00 p.m.

FAES Academic Center



* FARE Award Winner


  • S.M. Tajuddin
  • M.A. Nalls
  • M.F. Keller
  • A.B. Zonderman
  • M.K. Evans


Incidence of coronary heart disease (CHD) is higher and contributes to significant morbidity and mortality disparities in African Americans (AAs) compared to other racial groups. The atherosclerotic process of CHD leads to thickening of the intimal and medial layers of the common carotid artery. Carotid intima-media thickness (CIMT), measured by B-mode ultrasound, is a non-invasive assessment of subclinical atherosclerosis and has been shown to predict cardiovascular events. Identification of genetic variants linked with CIMT may facilitate early detection of atherosclerosis and improved treatment strategies. We conducted a genome-wide association analysis of CIMT in AAs in the Healthy Aging in Neighborhoods of Diversity across the Life Span (HANDLS) study. We analyzed genotyped and imputed SNPs that passed quality control criteria in 584 individuals. We identified eight SNPs in three novel loci (MMAA, LINC00299, and CAMTA1) associated with CIMT at genome-wide significance level (P<5x10-8). SNPs in CAMTA1 and LINC00299 have been implicated in plasma fatty acids and obesity related traits, respectively. MMAA is involved in cobalamin transportation into the mitochondria and may have an effect on atherosclerosis through homocysteine metabolism. Replication is underway in another AA cohort. Our findings may shed light on atherosclerosis development and provide a susceptibility biomarker in AAs.

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