Table 1.
Characteristics of the primary screening and replication populations.
Figure 1.
SNP: Single Nucleotide Polymorphism. aICGN: International COPD Genetics Network families. bNETT: National Emphysema Treatment Trial. cNAS: Normative aging study. d One of the SNPs genotyped in NETT/NAS population (rs735243) was not successfully genotyped in the BEOCOPD population.
Table 2.
Results of the replication association analyses of the top 100 SNPs in the Norway, ICGN, and NETT/NAS populations.
Figure 2.
Region of Association around CHRNA3/CHRNA5.
Annotated sections: Top: Linkage disequilibrium (r2) for all HapMap SNPs with rs8034191, showing an LD extension covering CHRNA3/CHRNA5. [red] r2≥0.8, [yellow] 0.5≤r2<0.8, [gray] 0.3≤r2<0.5, [blue] 0.2≤r2<0.3. Middle: Recent selection score. Bottom: genic context. Exons are depicted as blue vertical lines/rectangles, while introns are depicted as blue horizontal lines. Annotations were done using the WGAViewer software [31].
Table 3.
Genotype counts and allele frequencies for rs8034191 by case-control status and smoking status in the Bergen discovery cohort.