TABLE 4.
Genome wide association studies in NSCPO cohorts.
| SNP information | Locus | Gene# | Country | Sample size | P-value† | OR (95% CI) | References |
| 49% Europe – 47% Asia – 3% Africa | 550 triads | NS | Beaty et al. (2011), Shi et al. (2012), and Ludwig et al. (2017) | ||||
| rs41268753 | 1p36.11 | GRHL3 | Europe | 38 cases – 93 – triads – 835 controls | 4.08 × 10–9 | 8.3 (1.17–59.15) | Leslie et al. (2016) |
| rs117496742 | 11q22.1 | YAP1 | Europe | 38 cases – 93 – triads – 835 controls | 3.13 × 10–8 | 11.2 (1.04–121.8) | Leslie et al. (2016) |
| rs12175475 | 6p26 | PARK2 | Multiethnic | 78 cases – 165 triads – 1700 controls | 8.66 × 10–9 | 6.6 (1.12–39.58) | Leslie et al. (2016) |
| rs80004662 | 2p12 | CTNNA2 | Sub-Saharan Africa | 205 cases – 2159 controls | 7.41 × 10–9 | 7.5 (3.45–16.28) | Butali et al. (2019) |
| rs730570 | 14q32.2 | DLK1 | China | 2071 cases – 10145 controls | 6.59 × 10–10 | 1.28 | Huang et al. (2019) |
| rs4646211 | 13q32.3 | DOCK9 | China | 2071 cases – 10145 controls | 4.78 × 10–12 | 1.28 | Huang et al. (2019) |
| rs8061677 | 16q24.2 | FOXC2-FOXL1 | China | 2071 cases – 10145 controls | 9.11 × 10–11 | 1.29 | Huang et al. (2019) |
| rs72741048 | 1q32.2 | IRF6 | China | 2071 cases – 10145 controls | 3.07 × 10–15 | 1.314 | Huang et al. (2019) |
| rs1009136 | 19p13.11 | MAU2 | China | 2071 cases – 10145 controls | 2.66 × 10–9 | 1.25 | Huang et al. (2019) |
| rs730643 | 14q13.3 | PAX9 | China | 2071 cases – 10145 controls | 2.92 × 10–16 | 0.74 | Huang et al. (2019) |
| rs6791526 | 3p22.1 | POMGNT2 | China | 2071 cases – 10145 controls | 1.62 × 10–10 | 1.46 | Huang et al. (2019) |
| rs3468 | 4p16.3 | WHSC1 | China | 2071 cases – 10145 controls | 5.4 × 10–11 | 1.256 | Huang et al. (2019) |
#Further information about the molecular function, biological process and relative pathway is given in Supplementary Table S4. †NS, not significant SNP detected.