Table 1.
Overview of AD genome-wide association studies (GWAS).
| Reference | Phenotype | Study | Discovery sample size | GWS findings (at P<5×10−8) | Replicated? |
|---|---|---|---|---|---|
| Treutlein et al., 2009 | AD case-control status | German GWAS | 1,024 German ancestry cases, 996 German ancestry controls (male) | rs7590720, rs1344694 (PECR) | Not attempted |
| Bierut et al., 2010 | AD case-control status | SAGE | 1,235 EA cases, 1,433 EA controls and 662 AA cases, 449 AA controls | None | n/a |
| Edenberg et al., 2010 | AD case-control status | COGA | 847 EA cases, 552 EA controls | None | n/a |
| Kendler et al., 2011 | AD criteria factor score | MGS2 controls | 2,357 EAs; 812 AAs | None | n/a |
| Heath et al., 2011 | AD factor score | OZALC | 2,062 Australian cases, 3,393 Australian controls | None | n/a |
| Frank et al, 2012 | AD case-control status | German GWAS | 1,333 German ancestry cases, 2,168 German ancestry controls (male) | rs1789891 (ADH1C) | Yes, in COGA |
| Zuo et al., 2012 | AD case-control status | SAGE and COGA meta-analysis | 1,409 EA cases, 1,518 EA controls | None | n/a |
| Wang et al., 2013 | DSM-IV AD criteria count | COGA | 2,322 EAs | None | n/a |
| McGue et al., 2013 | AD factor score | MCTFR | 7,188 EAs | None | n/a |
| Park et al., 2013 | AD case-control status | Korean GWAS | 117 Korean cases, 279 Korean controls | rs1442492 and rs10516441 (ADH7), rs10516441 (ALDH2) | Yes, in an independent Korean sample |
| Quillen et al., 2014 | AD case-control status | Chinese GWAS | 102 Chinese cases, 212 Chinese controls (male) | rs3782886 and rs671 (ALDH2) | Not attempted |
| Gelernter et al., 2014 | DSM-IV AD criteria count; AD case-control status | Yale-Penn and SAGE | 2,379 EAs, 3,318 AAs (Yale-Penn); 2,752 EAs, 1,311 AAs (SAGE) | 14 SNPs in chromosome 4 in AAs including rs28542574 (LOC100507053) and rs2066702 (ADH1B) and rs1229984 (ADH1B) in EAs; rs1437396 on chromosome 2 (intergenic) | Yes, in both an independent, identically ascertained sample and in the German GWAS sample (case-control only) |
Abbreviations: AA, African-American; EA, European-American; AD, alcohol dependence; GWS, genome-wide significant