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be230cLecture11

20 and 25 of caucasians are homozygous for risk

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Unformatted text preview: properBes of vascular cells. Cardiac expression of two genes near the non ­coding interval, Cdkn2a and Cdkn2b, is severely reduced Primary cultures of Cdkn2a ­ or Cdkn2b ­deficient fibroblasts and Cdkn2a ­deficient aSMCs show increased proliferaBon rates Mechanism might be a long ­non ­coding RNA in the risk interval that controls expression of CDKN2a and CDKN2b McPherson et al., Science. 2007;316:1488–1491. Samani et al., N Engl J Med. 2007;357:443–453. Helgadoqr et al., Science. 2007;316:1491–1493. •  •  •  •  •  •  Overview of CAD/MI SuscepBbility Genes, Example: 9p21.3 9p21.3 locus idenBfied in 2007. Most robustly replicated CAD suscepBbility gene across many studies comprising diverse cohorts. 20% and 25% of Caucasians are homozygous for risk alleles, resulBng in esBmates of 10–31% populaBon aTributable risk. The CAD ­associated single nucleoBde polymorphisms (SNPs) are located within a 58 ­ kb linkage disequilibrium block on chromosome 9p21.3 that d...
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