Table 2. Significant association of deletions at 1q21.1, 15q11.2 and 15q13.3 with schizophrenia and related psychoses in the combined samples.
Locus | Chromosome 1: 144.94-146.29 (Mb) | Chromosome 15: 20.31-20.78 (Mb) | Chromosome 15: 28.72-30.30 (Mb) | |||
---|---|---|---|---|---|---|
Cases | Controls | Cases | Controls | Cases | Controls | |
Germany | 2 of 911 | 0 of 1,297 | 3 of 911 | 4 of 1,297 | 0 of 911 | 0 of 1,297 |
Scotland | 2 of 451 | 0 of 441 | 5 of 451 | 1 of 441 | 0 of 451 | 0 of 441 |
The Netherlands | 0 of 806 | 0 of 4,039 | 4 of 806 | 12 of 4,039 | 3 of 806 | 1 of 4,039 |
Norway | 0 of 237 | 0 of 272 | 0 of 237 | 0 of 272 | 1 of 237 | 0 of 272 |
Denmark* | 3 of 442 | 0 of 1,437 | 4 of 442 | 3 of 1,432 | 0 of 375 | 0 of 501 |
China* | 0 of 438 | 0 of 463 | 0 of 438 | 0 of 463 | NA | NA |
Phase II | ||||||
OR | ∞ (2.85, ∞) | 2.18 (1.01, 4.60) | 16.47 (1.52, 833.38) | |||
P-value | 5.6×10−4 | 0.032 | 7.9×10−3 | |||
Phase I and II | ||||||
OR | 14.83 (3.55, 60.40) | 2.73 (1.50, 4.89) | 11.54 (2.53, 49.58) | |||
P-value | 2.9×10−5 | 6.0×10−4 | 5.3×10−4 |
The three deletions nominally significant in phase I were tested for association in follow up samples from Germany, Scotland, The Netherlands, Denmark, Norway and China. All three deletions associate with schizophrenia and related psychoses in the combined phase I and II samples (the multiple testing significance threshold is 0.05/66=7.6×10−4). P-values in the table (uncorrected for the 66 tests) are from the exact Cochran-Mantel-Haenszel test and are two-sided. Coordinates are based on Build 36 assembly of the human genome. 95% confidence intervals are given within brackets. NA, not analysed.
Samples were measured using Taqman assays. Samples with CNVs identified by measuring gene dosage by a Taqman assay were verified and confirmed by genotyping the respective samples using the HumanCNV370 chip. A limited amount of DNA was available for genotyping the Chinese samples.