Table 2.
Studies conducted in cohorts of Asians and Africans.
| Study Type | Publication Year | Sample Size | Male/Female | Cohort Age Mean (SD) | Traits | Criteria for Discovery | N° of Variants d (Discovery Stage) | Criteria for Replication e | N° of Variants f (Replication Stage) | N° of Variants Replicated from g | N° of Variants Successfully Replicated from g | N° of Sexual Dimorphism Variants | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| (1) Studies conducted in Asian populations | |||||||||||||
| GWAS | 2009 | 16,703 (Dis a: 8842 East Asian; Rep b: 7861 East Asian) | 7397/9306 | 54.4 (8.4) | WHR | p < 1.0 × 10−5 | 2 | p < 5 × 10−2 | 1 | NA | NA | NA | [27] |
| GWAS | 2016 | 73,596 East Asian (Dis: 48,312, Rep: 25,284) | 31,570/42,026 | 54.4 (9) | WHRadjBMI | p < 1.0 × 10−6 | 33 | p < 5 × 10−8 | 2 | 60 | 11 (1 × 10−3) | 3 (10 from h) | [26] |
| WHRnoBMI | 33 | p < 5 × 10−8 | 0 | 13 (1 × 10−3) | |||||||||
| 2016 | 78,336 East Asian (Dis: 53,052, Rep: 25,284) | 36,310/42,026 | 54.4 (9) | WCadjBMI | p < 1.0 × 10−6 | 33 | p < 5 × 10−8 | 4 | 60 | 7 (1 × 10−3) | |||
| WCnoBMI | 33 | p < 5 × 10−8 | 3 | 60 | 15 (1 × 10−3) | ||||||||
| GWAS | 2016 | 12,240 (Dis a: 10,318 South Asian; Rep b: 1922 South Asian) | 9825/2415 | 50.5 (11.2) | WHR |
p < 5 × 10−8 p < 5 × 10−2 |
0 | p < 5 × 10−2 | 0 | 48 | 4 (p < 0.05) | 2 (11from known WHR) | [28] |
| Exome-Wide Association Study | 2016 | 2637 South Asian | 1798/839 | 51.6 (10.1) | WHR | p < 1.5 × 10−6 (single variant) p < 2.5 × 10−6 (gene-based analyses) | 0 | p < 5 × 10−2 | 0 | NA | NA | NA | [28] |
| GWAS | 2018 | 274 East Asian (139 dizygotic twin pairs) | NA | over 30 | BMI-WHR | p < 1.0 × 10−5 | 26 | NA | NA | NA | NA | NA | [74] |
| GWAS | 2008 | 14,639 (Dis a: 2684 South Asian, Rep b: 7394 South Asian and 4561 European) | 9954/4685 | 51.1 (11) | WC | p < 1.0 × 10−5 | 31 | p < 5 × 10−7 | 4 | NA | NA | NA | [75] |
| (2) Studies conducted in African populations | |||||||||||||
| GWAS | 2013 | 33,738 (Dis a: 23,564, Rep b: 19,744 African American or Afro-Caribbean) | 9224/24,514 | 56.1 (9.5) | WC | p < 5 × 10−6 | 25 | p < 5 × 10−8 | 1 | NA | NA | NA | [78] |
| 27,489 (Dis a: 19,744, Rep b: 7745 African American or Afro-Caribbean) | 6446/21,043 | 55.1 (9.7) | WHR | p < 5 × 10−6 | p < 5 × 10−8 | 1 | 14 | 6 | 1 | ||||
| Fine mapping | 2014 | 19,744 African American | 10,318/9426 | 51.4 (9.4) | WHR | NA | NA | p < 5 × 10−8 | NA | 14 | 12 | NA | [29] |
| Fine mapping | 2016 | 15,981 African American | 3884/12,097 | 54.1 (7.8) | WC | NA | NA | p < 9.97 × 10−5 | NA | 17 | 0 | 0 | [30] |
| WHR | NA | NA | p < 9.97 × 10−5 | NA | 17 | 8 | 5 | ||||||
NA: Not applicable; a Discovery stage sample; b Replication stage sample; c Criteria for discovery stage; d Number of variants found in the discovery stage by c criteria; e Criteria for replication in Asian study (also as a criterion for other types of studies); f Number of variants found in the replication stage by e criteria; g European GWAS including Heid et al. 2010 [19], Shungin et al. 2015 [20].