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Chunk #7 — Results — Meta-analyses of CHARGE genome-wide association results

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Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
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six chromosome 2q36.3 SNPs near the 3’-end of PID1 (Fig. 2g) were also significantly associated with FEV1/FVC in all participants. SNPs in AGER, PPT2, PTCH1, and PID1 had minor allele frequencies (MAFs) between 4 and 10%, while all other significantly associated SNPs had MAFs exceeding 10%. Absolute β values (per-allele change in FEV1/FVC) ranged from 0.44 to 1.14%. The β directions were consistent across the CHARGE cohorts for all genome-wide significant SNPs except for the GPR126 SNPs noted in Supplementary Table 2. A borderline significant association (P=5.37×10−8, MAF=0.42, β=−0.43) with FEV1/FVC was noted for the chromosome 5q33.1 SNP rs11168048 in HTR4 (Fig. 2h). Cohort-specific association results for SNPs with the smallest P value from each locus implicated at or near genome-wide significance are shown in Supplementary Table 3.