Table II. Published genome-wide association studies (GWASs) for bipolar disorder.34-39 The number of variants investigated, the best associated singlenucleotide polymorphism(s)-SNP(s) - found and the gene(s) containing that SNP(s), the corresponding Pvalue(s), and the number of cases and controls in the discovery and the replication/meta-analysis sample are all given. Genome-wide significant findings are highlighted in bold EA, European Ancestry Individuals; AA, African-American Individuals; ND, no data available; NR, no replication .
Study | N° SNPs | Supported | Supported | Genomic | P value | N° samples. | P value | N° samples. |
analyzed | gene | variant | region | discovery | discovery | combined | replication/ | |
meta-analysis | ||||||||
Baum et al | ~ 550 000 | diacylglycerol kinase | rs1012053 | 13q14.11 | 0.0002 | 461 cases | 1.5x10-8 | 772 cases |
(2007) | eta (DGKH) | 563 controls | 876 controls | |||||
Welcome Trust | ~ 500 000 | partner and localizer | rs42059 | 7q21.3 | 6.3 x10-8 | 1868 cases | ND | ND |
Case Control | Of BRCA2 (PALB2) | 2938 controls | ||||||
Consortium | ||||||||
(WTCCC; 2007) | ||||||||
Sklar et al | ~ 400 000 | tetraspanin-8 (TSPAN8) | rs1705236 | 12q21.1 | 6.1x10-7 | 1461 cases | NR | |
(2008) | myosin5B (MYO5B) | rs4939921 | 18q21.1 | 1.7 x10-7 | 2008 controls | NR | ||
voltage-dependent | 3329 cases | |||||||
calcium channel, L-type, | rs1006737 | 12p13.33 | 8.8x10-4 | 3.1 x 10-6 | 4946 controls | |||
alpha K subunit | ||||||||
(CACNA1C) | ||||||||
Ferreira et al | ~ 1 800 000 | ankyrin G (ANK3) | rs10994336 | 10q21.2 | 0.0002 | 1098 cases | 9.1 x 10-9 | 4387 cases |
(2008) | (imputed) | rs1938526 | 10q21.2 | 0.0002 | 1267 controls | 1.3x10-8 | 6209 controls | |
~ 300 000 | voltage-dependent | rs1006737 | 7.0 x10-8 | |||||
(genotyped) calcium channel, L-type, | 12p13.33 | 0.0108 | ||||||
alpha K subunit | ||||||||
(CACNA1C) | ||||||||
Scott et al | ~ 550 000 | inter-alpha (globulin) | rs1042779 | 3p21.1 | 2076 cases | 1.8 x10-7 | 3683 cases | |
(2009) | inhibitor H1 (ITIH1) | 1676 controls | 14507 controls | |||||
multiple C2 domains, | rs17418283 | 5q15 | ND | |||||
transmembrane 1 | 1.3 x10-7 | |||||||
(MCTP1) | ||||||||
nuclear factor 1 A-type | rs472913 | 1p32.1 | 2.0 x10-7 | |||||
(NF1A) | ||||||||
Smith et al | ~ 700 000 | nck-associated protein 5 | rs10193871 | 2q21.2 | 9.8x10-6 | 1001 cases | ND | ND |
(2009) | (NAP5) | 1033 controls | ||||||
(EA) | ||||||||
dpy-19-like 3 (DPY19L3) | rs2111504 | 19q13.11 | 1.5x10-6 | 345 cases | ||||
670 controls | ||||||||
(AA) |