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Chunk #16 — Results — Replication in Atherosclerosis Risk in Communities (ARIC) Study

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Hemizygous Deletion on Chromosome 3p26.1 Is Associated with Heavy Smoking among African American Subjects in the COPDGene Study.
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AAs are quite comparable with those seen in COPDGene, confirming this polymorphic deletion is more common among AA subjects. Among AA subjects in the ARIC cohort (a less selected cohort of adults, including many non-smokers), however, only 52.6% were ever smokers, whereas COPDGene study subjects were all smokers with at least 10 pack-years exposure. After sub-setting the ARIC cohort into those subjects with at least 10 pack-years of smoking, only 973 AA subjects were left for analysis, but the mean pack-years of smoking 29.8 was lower in the ARIC study compared to mean pack-years of smoking 38.1 for COPDGene study subjects. Among these 973 AA subjects, 47 were hemizygous deletion carriers and the remaining were normal diploids. Similar regression analysis of pack-years of smoking on polymorphic CNVs in this sub-set of AA subjects from ARIC showed no significant association between this CNP component on 3p26.1 and pack-years of smoking (p = 0.115), although the direction of the estimated effect size was the same (see S2 Table).