Table 3.
Reference | Questionnaire | Trait | Study Design | Discovery Sample | GW association P < 5 × 10−8 | Nearby Gene (region) | Replication Sample | Replicated |
---|---|---|---|---|---|---|---|---|
(van den Oord et al. 2008) | EPQ (short) | Neuroticism | GWAS | 1,227 EUR | N | - | 1880 EUR | N |
(Calboli et al. 2010) | EPQ (short) | Neuroticism | GWAS | 2,235 EUR | N | - | NA | - |
(Verweij et al. 2010) | TPQ | HA, NS, RD, P | GWAS | 5,117 EUR | N | - | NA | - |
(Terracciano et al. 2010a) | NEO-PI-R | Neuroticism | GWAS | 3,972 EUR (Sardinia) | N | 5,105 EUR | N | |
Extraversion | N | |||||||
Openness | N | |||||||
Agreeableness | N | |||||||
Conscientiousness | N | |||||||
TPQ | HA | N | ||||||
(Terracciano et al. 2011) | NEO-PI-R | Excitement-seeking | Meta-analysis | 7,860 EUR | 1 SNP: rs7600563 (P= 2 × 10−8) | CTNNA2 | 608, 1,545, 3,043 EUR | N |
(Luciano et al. 2012) | EPQ | Neuroticism | Meta-analysis | 6,268 EUR | N | - | 527–6032 EUR | N |
Extraversion | N | - | ||||||
(Service et al. 2012) | TPQ | HA, NS, RD, P | Meta-analysis | ~ 11,000 EUR | N | - | NA | - |
(de Moor et al. 2012) | NEO | Openness | Meta-analysis | 17,375 EUR | 2 SNP: rs1477268 (P= 2.8 × 10−8), rs2032794 (P=3.1×10−8) | RASA1 | 3,294 EUR | N |
Conscientiousness | 1 SNP: rs2576037(P= 4.9×10−8) | KATNAL2 | N | |||||
(Bae et al. 2013) | NEO-FFI | Agreeableness | GWAS | 4,595 EUR | 3 SNPs: rs9650241 (P= 8.12×10−10), rs2701448 (P= 9.46×10−10), kgp6080058 (P= 1.57×10−9) | Chr 8 | 1,279 EUR | N |
(Kim et al. 2013) | NEO-PI-R | Openness | GWAS | 4,000 EAS | 1 SNP: rs214618 (P= 1.67 × 10−8) | PTPRD | 2,090 EAS | N |
Neuroticism | N | |||||||
(Kim et al. 2015a) | NEO-PI-R | Agreeableness | Meta-analysis | 3,898 EAS | N | - | 1,021 EAS | N |
(de Moor et al. 2015) | IRT | Neuroticism | Meta-analysis | 63,661 EUR | 1 SNP: rs35855737; P= 9.26 × 10−9 | MAGI1 | 9,786 EUR | N |
(Smith et al. 2016) | EPQ (short) | Neuroticism | Meta-analysis | 91,370 EUR (UK Biobank) 6,659 EUR; 8687 EUR |
9 SNPs: rs490647 (P= 3.8 × 10−8), rs4653663 (P= 2.0 × 10−8), rs12637928 (P= 4.3 × 10−8), rs62353264 (P= 3.7 × 10−8), rs12682352 (P= 1.5 × 10−15), rs12378446 (P= 9.4 × 10−9), rs4977844 (P= 3.2 × 10−8), rs111433752 (P= 9.3 × 10−12), rs1187264 (P= 1.2 × 10−8) |
GRIK3, ENAH, SRP9, PVRL3, TMEM192, KLHL2, MSMO1 >10 genes chr 8, PTRD, ELAVL2, >10 genes chr 17 (e.g. CRHR1) , CELF4, respectively |
NA | - |
(Okbay et al. 2016) | IRT, EPQ (short) | Neuroticism | Meta-analysis | 170,911 EUR (GPC, UK Biobank) | 11 SNPs: rs2572431 (P= 4.2 × 10−16), rs193236081 (P= 6.3 × 10−11), rs10960103 (P= 2.1 × 10−10), rs4938021 (P= 4.0 × 10−10), rs139237746 (P= 2.6 × 10−9), rs1557341 (P= 5.6 × 10−9), rs12938775 (P= 8.5 × 10−9), rs12961969 (P= 2.2 × 10−8), rs35688236 (P= 2.4 × 10−8), rs2150462 (P= 2.7 × 10−8), rs12903563 (P= 2.9 × 10−8) | - | Y* | Y |
(Lo et al. 2016) | NEO-FFI (23andMe); NEO, IRT, EPQ | Extraversion | Meta-analysis | 122,886 EUR (23andMe and GPC) |
4 SNPs: rs57590327 (P= 1.26 × 10−9), rs2164273 (P= 1.61 × 10−9), rs6481128 (P= 5.44 × 10−10), rs1426371 (P= 9.54 × 10−15) | GBE1, MTMR9, PCDH15, WSCD2 | 39,500 EUR (23andMe) 7,100 (deCODE) |
Y |
Neuroticism | 2 SNPs: rs6981523 (P= 3.17 × 10−24), rs9611519 (P= 9.16 × 10−9) | XKR6, L3MBTL2/CHADL | 39,500 EUR (23andMe) 7,100 (deCODE) 91,370 (UK Biobank) |
Y | ||||
(van den Berg et al. 2016) | IRT | Extraversion | Meta-analysis | 63,030 EUR | N | - | 9,783 EUR | - |
Luciano et al. (2017) | EPQ (short) | Neuroticism | GWAS | 329,821 EUR | 116 SNPs | Y | Y | |
(Nagel et al. 2017) | EPQ (short), NEO, NEO-FFI | Neuroticism | Meta-analysis | 449,484 EUR (UK Biobank, 23andMe, GPC1) | 136 SNPs | NA | - |
“quasi-replication”;
see Okbay et al. (2016).