Table 1.
The characteristics of the studies included in the present review.
| Author | Diagnosis | Criteria | Sample size | Platform | GWAS software |
|---|---|---|---|---|---|
| Mullins et al., 2021 (14) | Bipolar disorder | DSM-IV, ICD-9, ICD-10 | Bipolar disorder: 41,917, Controls:371,549 | Affymetrix and Illumina | PLINK ver 1.90 |
| Li et al., 2021 (17) | Bipolar disorder | DSM-IV | Bipolar disorder: 1784, Controls:2474 | SNaPShot | PLINK ver 1.9 |
| Budde et al., 2019 (18) | Bipolar disorder | DSM-IV | Bipolar disorder:1,081 | Illumina; HumanHap550v3, Human610, Human660w | PLINK |
| Stahl et al., 2019 (19) | Bipolar disorder | DSM-IV or ICD-10 | Bipolar disorder:20,352, Controls:31,358 | Affymetrix and Illumina | PLINK ver 1.09 |
| Ikeda et al., 2018 (20) | Bipolar disorder | DSM-IV-TR | Bipolar disorder: 2,964, Controls:61,887 | Illumina; HumanOmniExpressExome v1.0/v1.2 chip |
LocusZoom |
| Acikel et al., 2016 (21) | Bipolar disorder | – | Bipolar disorder: 604, Controls: 1,767 | Affymetrix; Affy6.0 | PLINK ver 1.8 |
| Hou et al., 2016 (22) | Bipolar disorder | DSM-III or DSM-IV | Bipolar disorder: 9784, Controls:30,471 | Affymetrix; Affy6.0, 500K and Illumina; HumanHap550, HumanOmni2.5M, OmniExpress | PLINK |
| Li et al., 2016 (23) | Bipolar disorder | DSM-IV, ICD-10 | Bipolar disorder: 7,481, Controls: 9,250 | Affymetrix exon arrays | Sherlock |
| Kuo et al., 2014 (24) | Bipolar disorder | DSM-IV | Bipolar disorder: 240, Controls: 240 | Affymetrix; Affy6.0 | PLINK ver 1.07 |
| Mühleisen et al., 2014 (25) | Bipolar disorder | DSM-IIR, DSM-IV | Bipolar disorder: 9,747, Controls:14,278 | Illumina; Human660W, HumanOmni1 | PLINK ver 1.07, INTERSNP ver 1.11 |
| Xu et al., 2014 (26) | Bipolar disorder | DSM-IV or ICD-10 | Bipolar disorder: 950, Controls: 950 | Affymetrix; Affy5.0 | PLINK |
| Chen et al., 2013 (27) | Bipolar disorder | DSM-IV | Bipolar disorder: 7773, Controls:10 915 | Affymetrix; Affy6.0, 500K and Illumina; HumanHap550, HumanHap300, human 610-Quad, Infinium II |
PLINK ver 1.4 |
| Green et al., 2013 (28) | Bipolar disorder | DSM-IV | Bipolar disorder: 7,481, Controls: 9,250 | Illumina | PLINK ver 1.07 |
| Cichon et al., 2011 (29) | Bipolar disorder | DSM-IV | Bipolar disorder: 682, Controls:1,300 | Illumina; HumanHap550v3 | PLINK ver 1.05 |
| Lee et al., 2011 (30) | Bipolar disorder | DSM-IV | Bipolar disorder: 1409, Controls: 2000 | Illumina; HumanHap550 | – |
| Psychiatric GWAS Consortium Bipolar Disorder Working Group, 2011 (31) | Bipolar disorder | DSM-IV, ICD-10 | Bipolar disorder: 11,974, Controls: 51,792 | Affymetrix; Affy6.0, Affy5.0, 500K and Illumina; HumanHap550 | PLINK |
| Yosifova et al., 2011 (32) | Bipolar disorder | – | Bipolar disorder: 188, Controls: 376 | Illumina; HumanHap550v3 | – |
| Djurovic et al., 2010 (33) | Bipolar disorder | DSM-IV | Bipolar disorder: 194, Controls:336 | Affymetrix; Affy6.0 and Illumina; HumanHap300 and HumanCNV370 |
PLINK |
| Scott et al., 2009 (34) | Bipolar disorder | DSM-IV or ICD-10 | Bipolar disorder: 3,683, Controls:14,507 | Affymetrix; 500K and Illumina; HumanHap550 | – |
| Ferreira et al., 2008 (35) | Bipolar disorder | DSM-IV | Bipolar disorder: 4,387, Controls: 6,209 | Affymetrix; Affy6.0, Affy5.0, 500K | PLINK |
| Dalmasso et al., 2024 (36) | Alzheimer’s disease | NINCDS-ADRDA | Alzheimer’s disease: 539, Controls: 854 | Illumina; Infinium Global Screening Array v.1.0 | PLINK ver 1.9 |
| Sherva et al., 2023 (37) | Alzheimer’s disease | ICD-9, ICD-10 | Alzheimer’s disease: 4,012, Controls: 18,435 | MVP 1.0 custom Axiom array | SHAPEIT4 v 4.1.3, MINIMAC4 |
| Bellenguez et al., 2022 (15) | Alzheimer’s disease | NINCDS–ADRDA | Alzheimer’s disease:111,326, Controls:677,663 | Affymetrix; 500K and Illumina; Human Omni Express-24 v1.1, Human 610, HumanHap550 | SNPTEST 2.5.4-beta3, PLINK v1.90 |
| Harper et al., 2022 (38) | Alzheimer’s disease | – | Alzheimer’s disease: 424, Controls: 2,206 | Illumina;Infinium Multi-Ethnic Global-8 v1.0 | PLINK |
| Wightman et al., 2021 (39) | Alzheimer’s disease | NINCDS–ADRDA, ICD-9, ICD-10 | Alzheimer’s disease: 90,338, Controls:1,036,225 | Illumina; HumanHap550, Human Omni Express, Infinium Global Screening Array | PLINK ver 1.90 |
| Jansen et al., 2019 (40) | Alzheimer’s disease | NINCDS–ADRDA, ICD-10 | Alzheimer’s disease:71,880, Controls:383,378 | Affymetrix;UK BiLEVE, Illumina; Human Omni Express-24 v.1.1 Axiom array, UK Biobank Axiom array |
PLINK |
| Kunkle et al., 2019 (41) | Alzheimer’s disease | NINCDS-ADRDA, DSM-IV, DSM-V | Alzheimer’s disease: 35,274, Controls:59,163 | Affymetrix; 500K and Illumina; HumanHap550, 370CNV Duo, Human 610, OmniExpress | PLINK |
| Moreno-Grau et al., 2019 (42) | Alzheimer’s disease | – | Alzheimer’s disease: 11,999, Controls: 9,236 | Affymetrix | PLINK ver 1.9 |
| Witoelar et al., 2018 (43) | Alzheimer’s disease | ICD-10 | Alzheimer’s disease: 2,135, Controls:6,858 | Illumina; Human Omni Express-24 v.1.1 | PLINK ver 1.9 |
| Jun et al., 2016 (44) | Alzheimer’s disease | NINCDS-ADRDA | Alzheimer’s disease: 17,536, Controls: 3,6175 | Affymetrix; Affy6.0, Illumina; Human Omni Express-24 | – |
| Lambert et al., 2013 (45) | Alzheimer’s disease | NINCDS-ADRDA | Alzheimer’s disease: 17,008, Controls:37,154 | Illumina; HumanHap550, 370CNV Duo, Human 610, Omni1 | PLINK, probABEL, R (GEE), SNPtest |
| Seshadri et al., 2010 (46) | Alzheimer’s disease | NINCDS-ADRDA/DSM-IV | Alzheimer’s disease: 3,006, Controls:14,642 | Illumina; HumanHap550, 370CNV Duo, Human 610 | PLINK |
| Mukherjee et al., 2020 (47) | Late-onset Alzheimer’s disease | NINCDS–ADRDA | Late-onset Alzheimer’s disease: 2431, Controls:3447 | – | PLINK ver 1.9 |
| Beecham et al., 2009 (48) | Late-onset Alzheimer’s disease | NINCDS–ADRDA | Late-onset Alzheimer’s disease: 492, Controls:496 | Illumina; HumanHap550 | PLINK ver 1.9 |
| Chia et al., 2021 (49) | Lewy body dementia | Established consensus criteria of DLB Consortium | Lewy body dementia: 2591, Controls:4027 | Illumina; HiSeq X Ten sequencer | PLINK ver 1.9 |
| Schrijvers et al., 2012 (50) | Vascular dementia | NINDS-AIREN | Vascular dementia: 67, Controls:5633 | Illumina; HumanHap550 v3.0 | PLINK |
| Reus et al., 2021 (51) | Frontotemporal dementia | Neary criteria, Rascovsky and Gorno-Tempini criteria | Frontotemporal dementia: 354, Controls: 4,209 | Illumina; Genome Screening Array | PLINK ver 2.0 |
| Ferrari et al., 2015 (52) | Frontotemporal dementia | Neary criteria, Rascovsky and Gorno-Tempini criteria | Frontotemporal dementia: 530, Controls:926 | Illumina; Human 660K | PLINK |
| Ferrari et al., 2014 (53) | Frontotemporal dementia | Neary criteria | Frontotemporal dementia: 3526, Controls:9402 | Illumina; Human 370K, 550K, 660K | PLINK ver 1.07 |
DSM, Diagnostic and Statistical Manual of Mental Disorders; ICD, International Classification of Diseases; NINCDS-ADRDA, National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer’s Disease and Related Disorders Association; NINDS-AIREN, Neurological Disorders and Stroke-Association Internationale pour la Recherche et l'Enseignement en Neurosciences.