Article
Variants in two adjacent genes, EGLN2 and CYP2A6, influence smoking behavior related to disease risk via different mechanisms.
Human molecular genetics - 15 Jan 2014
Bloom A Joseph, Baker Timothy B, Chen Li-Shiun, Breslau Naomi, Hatsukami Dorothy, Bierut Laura J, Goate Alison
Abstract excerpt
Genome-wide significant associations with cigarettes per day (CPD) and risk for lung cancer and chronic obstructive pulmonary disease (COPD) were previously reported in a region of 19q13, including CYP2A6 (nicotine metabolism enzyme) and EGLN2 (hypoxia response). The associated single nucleotide polymorphisms (SNPs) were assumed to be proxies for functional variation in CYP2A6. Here, we demonstrate that when...
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