The most distal gene in the chromosome 4q24 region, NPNT, encodes nephronectin, which is expressed in fetal and adult lung45,46. The NPNT SNP rs10516529 is located in a binding site for the transcription factor POU6F1 (also known as mPOU homeobox protein), which is known to be expressed in adult lung and hypothesized to play a role in lung development47–49. A fourth predicted gene in the region, FLJ20184, is located proximal to the other three genes. Although FLJ20184 encodes a hypothetical protein of unknown function, FLJ20184 contains allelic variants associated with successful smoking cessation in a GWAS of patients in smoking cessation trials50.
