Official Journal of the Human Genome Organisation
Table 1 Common CNVs associated with disease
Disease | Chromosomal locus | Genes | Risk-associated copy number change | Reference |
|---|---|---|---|---|
HIV/AIDS | 17q12 | CCL3L1 | Low copy numbers (<2 in European- and Hispanic-Americans; <4 in African-Americans) | Gonzalez et al. (2005) |
Glomerulonephritis | 1q23 | FCGR3B | Low copy numbers (<2) | Aitman et al. (2006) |
Systemic lupus erythematosus (SLE) | 1q23 | FCGR3B | Low copy numbers (<2) | Fanciulli et al. (2007) |
6p21.3 | C4 | Low copy numbers (<3) | Yang et al. (2007) | |
Crohn’s disease | 8p23.1 | Beta-Defensins | Low copy numbers (<4) | Fellermann et al. (2006) |
5q33.1 | IRGM | Low copy numbers (<2) | McCarroll et al. (2008) | |
Psoriasis | 8p23.1 | Beta-Defensins | High copy numbers (>4) | Hollox et al. (2008) |
Osteoporosis | 4q13.2 | UGT2B17 | Presence of gene (>0 copies) | Yang et al. (2008) |
Graft-vs.-host disease (GVHD) | 4q13.2 | UGT2B17 | Absence of gene (0 copies) | McCarroll et al. (2009) |
Neuroblastoma | 1q21.1 | Novel neuroblastoma breakpoint family (NBPF) gene | Low copy numbers (<2) | Diskin et al. (2009) |