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Chunk #2 — Introduction

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Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
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The first genome-wide association study (GWAS) for pulmonary function evaluating 70,987 single nucleotide polymorphisms (SNPs) in about 1,220 Framingham Heart Study (FHS) participants revealed no genome-wide significant loci9. Recently, a GWAS of FEV1/FVC using 2,540,223 SNPs in 7,691 FHS participants identified several chromosome 4q31 SNPs near HHIP with genome-wide significance10. A GWAS of COPD11 also implicated the HHIP region along with CHRNA3/5 on chromosome 15, previously associated with nicotine dependence12,13.