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Table 1 Summary of association statistics

From: Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci

Locus: Deletion 13q32.1       Duplication 7p22.1       Duplication 8q24.3      
Breakpoints: chr13:94,781,525-94,797,285       chr7:5,786,323-5,905,210       chr8:140,390,975-140,524,875      
Previously reported: DGV(Variation_49277)       DGV(Variation_53516)            
CNV size: 15.8 kb       119 kb       134 kb      
Covered or close genes: ABCC4, CLDN10 ZNF815, OCM, RNF216, RSPH10B KCNK9
  cases controls P-value OR cases controls P-value OR cases controls P-value OR
  wt cc wt cc   (95 % CI) wt cc wt cc   (95 % CI) wt cc wt cc   (95 % CI)
Germany (discovery) Affy6.0 897 5 1563 1 0.027 8.71 899 3 1564 0 0.043 Inf 898 4 1564 0 0.018 Inf
       (0.97 - 411)       (0.72 - Inf) 0.45   0.00    (1.15-Inf)
Germany (replication) TaqMan 445 6 1272 2 0.005 8.56 453 0 1279 0 >0.05   452 1 1377 0 >0.05  
       (1.52-87.2)             
WTCCC2 (UK) Affy6.0 2391 5 4880 6 >0.05   2393 3 4886 0 0.061   2391 5 4884 2 0.058 3.40
                   (0.66 - 21.9)
Norwegian Affy6.0 251 1 272 0 0.36   252 0 272 0 >0.05   252 0 272 0 >0.05  
Lithuanian TaqMan 442 2 1131 2 >0.05   438 0 1139 1 >0.05   445 0 1134 0 >0.05  
in silico controls European-ancestry combined results 4501 5 ----   5788 1 -----   6724 3 -----  
  4426 19 13619 16 1.2 × 10 −3 2.64 4435 6 14928 2 2.7 × 10 −3 8.41 4438 10 15955 5 8.7 × 10 - 4 4.62
  0.43 %   0.11 %    (1.3–5.2) 0.13 %   0.01 %    (1.4–88) 0.22 %   0.03 %    (1.5–15)
Bonferroni corrected      3.6 × 10 −3       8.1 × 10 −3       2.6 × 10 −3  
MARV      4.3 × 10 −3       6.2 × 10 −3       2.8 × 10 −3  
  1. Frequencies are presented panel-wise and combined for the 3 relevant CNVs. P-values were calculated by two-sided Fisher’s exact tests for CNV carriership. Odds ratios (OR) with 95 % confidence intervals (95 % CI; inf = infinite) are listed when P-values are smaller than 0.05. cc refers to CNV carrier individuals and wt (wildtype) to non-carriers. To account for population structure and low frequencies, the M.A.R.V. analysis method [29] was applied to the overall study sample