Table 1.
Selected copy number polymorphisms associated with complex diseases
| Gene | Disease/trait | Variant type | Associated allele | Reference |
|---|---|---|---|---|
| DEFB4, DEFB103, DEFB104 | Psoriasis | Amplificationa,b | High copy number | (48) |
| DEFB4, DEFB103, DEFB104 | Crohn’s disease | Amplificationa,b | Low copy number | (2, 32) |
| CCL3L1 | HIV/AIDS | Amplificationa,b | Low copy number | (34, 42, 45, 123) |
| C4 | Lupus | Amplificationa,b | Low copy number | (135) |
| FCGR3B | Glomerulonephritis in Lupus patients | Amplificationa,b | Low copy number | (1, 30) |
| FCGR3B | Lupus | Amplificationa,b | Low copy number | (30) |
| IRGM | Crohn’s disease | Upstream deletion | Deletion | (79) |
| CFHR1, CFHR3 | Age-related macular degeneration | Deletiona | No deletion | (50, 116) |
| CYP2D6 | Reduced drug metabolism | Deletiona | Deletion | (35) |
| RHD | Rh-negative blood group | Deletiona | Deletion | (15) |
| OPN1LW, OPN1MW | Color blindness | Deletion | Deletion | (27, 90) |
| LPA | Coronary heart disease | Amplificationa,b | Low copy number | (64) |
| SMN2 | Severity of spinal muscular atrophy | Amplificationa,b | Low copy number | (130) |
| AZFc region | Spermatogenetic failure | Deletiona | Deletion | (102) |
| CYP21A2 | Congenital adrenal hyperplasia | Amplificationa,b | Two copies/chrom | (62) |
| UGT2B17 | Osteoporosis | Deletionb | No deletion | (134) |
| UGT2B17 | Graft-versus-host disease | Deletionb | Deletion | (77) |
| LCE3B, LCE3C | Psoriasis | Deletion | Deletion | (23) |
| NEGR1 | Obesity | Upstream deletion | Deletion | (129) |
| NBPF23 | Neuroblastoma | Deletiona,b | Deletion | (26) |
| TSPAN8 | Type 2 diabetes | Amplificationa,b | Low copy number | (20) |
| HLA | Crohn’s disease, rheumatoid arthritis, type 1 diabetes | Multiple CNVsa | Various | (20) |
| GPRC5B | Obesity | Upstream deletion | Deletion | (115) |
a
Multicopy CNP, more than three diploid copy numbers observed in the population.
b
CNP is in a segmental duplication.