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. 2010 Dec 8;19(4):458–464. doi: 10.1038/ejhg.2010.191

Table 2. SNP association results for ORMDL3, PDE4D, DENND1B and IL1RL1.

          Allele frequency      
Region Gene Literature SNP, allelea Reported OR Power, %b Cases Controls OR 95% CI OR P-value
(a) Most-associated variant reported in the original studies
 17q12-21 ORMDL3 rs7216389, T 1.45 100 0.53 0.47 1.25 1.12–1.40 6.0 × 10−5
 5q12 PDE4D rs1588265, G 0.85 78 0.31 0.30 1.05 0.93–1.18 0.4334
 1q31 DENND1B rs1775456, G 0.75 93 0.21 0.20 1.02 0.89–1.17 0.7862
 2q12 IL1RL1 rs1420101, T 1.16 77 0.39 0.38 1.04 0.93–1.17 0.4649
                   
          Allele frequency   P-value
Region
Gene
Best SNP, allelea
N SNPs testedc
LD with literature SNP, rb
Cases
Controls
OR
Uncorrected
Correctedd
(b) Most-associated variant in this study
 17q12-21 ORMDL3 rs6503525,C 232 0.61 0.50 0.43 1.33 4.8 × 10−7 0.0002
 5q12 PDE4D rs17725522,C 1503 0.00 0.06 0.08 0.68 0.0007 0.1948
 1q31 DENND1B rs12094462,G 171 0.03 0.10 0.12 0.81 0.0229 0.3238
 2q12 IL1RL1 rs10197862,G 182 0.09 0.12 0.16 0.75 0.0004 0.0122
a

All four SNPs in (a) were present in the Illumina chips used and passed QC filters. The top SNPs listed in (b) were imputed with high confidence with MACH, with nearby genotyped SNPs providing comparable evidence for association (cf. Figure 1).

b

Power to detect the initial association at α=0.05 in this study.

c

Number of SNPs located in or within 50 kb of each gene. For ORMDL3, we considered all SNPs located between 50 kb downstream of GSDMB and 50 kb upstream of GSDMA.

d

Significance of the best SNP after accounting for the number of and LD between all SNPs tested in the respective gene, estimated from 10 000 permutations.