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Table 2. Rare variants association studies
Design Samples Risk genes Authors
Target resequencing
Case-control 240 cases of SCZ, 221 cases of BD, and 192 cases DISC1 Thomson et al. [69]
of MDD and 889 controls
Case-control 80 SCZ cases and 80 controls DISC1, ATF5, GRB2, YWHAE, ZNF365 Moens et al. [70]
Case-control 273 SCZ cases and 287 controls NRXN, NRLN, GRIN2B Kenny et al. [71]
Case-control 654 cases (241 SCZ, 221 BD and 192 MDD) and DISC1, TSNAXIP1 Teng et al. [72]
889 controls
Case-control 760 cases with co-occurring alcohol dependence, DISC1, GRIN2B Xie et al. [73]
cocaine dependence and opioid dependence, and
760 controls
Case-Control 433 SCZ, 145 pervasive developmental disorders, NDE1 Kimura et al. [74]
3554 controls
Case-control Set 1:370 SCZ, 192 ASD & Set 2: 1716 SCZ, 382 RTN4R Kimura et al. [75]
ASD, 4009 controls
Case-control 92 SCZ patients ADAMTSL3 Dow et al. [76]
Case-control 1000 SCZ cases and 500 controls. Follow-up ATAT1, SH3PXD2A, NTRK3, MIR185 Forstner et al. [77]
analysis: 3598 and 4082 controls
Case-control 142 ASD patients, 143 SCZ subjects, and 277 IL1RAPL1, MAOB Piton et al. [78]
controls
Case-control 285 SCZ cases and 285 controls SHANK3, IL1RAPL1, NRXN1 Awadalla et al. [79]
WES
Mixed 4,264 SCZ cases, 9,343 controls and 1,077 SETD1A Singh et al. [81]
proband trios
Case-control 12,332 individuals (4,877 SCZ patients, 6,242 TAF13, SETD1A, NRXN1 Genovese et al. [82]
controls and 1,144 other disorders)
Case-control 50 controls and 50 patients (from 180 SCZ MEGF8, GAD1, FMN1, ANO2 Giacopuzzi et al. [83]
patients)
Case-control 36,989 cases and 113,075 controls PSD-95, ARC, NMDAR Ruderfer et al. [110]
Case-control 100,296 individuals (mixture of cases and Ganna et al. [85]
controls)
Case-control 2,545 SCZ cases and 2,545 controls NSD1, HELLS, PHF21A, PAWR Curtis [86]
Case-control 2,536 patients and 2,543 controls ARC, FMRP, FMR1 Purcell et al. [14]
Family 623 family trios ARC, FMRP, NMDAR complex genes Fromer et al. [87]
Meta analysis Rare coding variants in 9,274 controls and 4,133 Singh et al. [88]
SCZ cases, de novo mutations in 1,077 family
trios, and copy number variants from 6,882 cases
and 11,255 controls
Case-control 2,545 cases and 2,545 controls Selected genes implicated: PLN, SLC25A4, Trakadis et al. [89]
NDP, ARL1
Family 53 family trios & 22 unrelated controls Selected genes implicated: ESAM, LAMA2, Xu et al. [91]
RB1CC1, SPATA
Family 14 proband trios Selected genes: ZNF565, NRIP1, CCDC137, Girard et al. [92]
CHD4
Mixed 14 parent child trios, 48 unrelated SCZ cases PTPRG, SLC39A13, and TGM5 Kranz et al. [93]
Family 10 related individuals (3 diagnosed with SCZ) TIMP2 John et al. [94]
Mixed Multi-member family, 1000 cases & 1,050 TAAR1 John et al. [95]
ethnically matched controls, and 310 sporadic
cases of Affrican American and Caucasian origin
Mixed Multiplex family: 6 affected, 8 unaffected, UNC13B Egawa et al. [96]
1 unknown, resequencing: 15 members of a
multiplex family and 111 affected offspring
Mixed 3 families with one affected patients and an PDCD11 Hoya et al. [97]
unaffected sibling, 96 SCZ patients, 638 SCZ
patients and 675 controls
Mixed Targeted sequencing of 2 cases of COS, WES 17 ATP1A3 & FXYD Chaumette et al. [98]
proband trios with sporadic COS
Mixed UK10K: 1,392 SCZ cases and 982 persons with IGTB4 O’Brien et al. [99]
severe childhood obesity; Sweedish SCZ Study:
2,545 SCZ cases and 2,545 control; Bulgarian
trio sample: 591 SCZ trios, and UCL case control
study: 1917 BD cases, 1304 SCZ cases and 1348
control