Table 1. Summary of GWAS scan and replication studies for association between rs12296850 at 12q23.1 and risk of lung squamous cell carcinoma (SqCC).
Study | GG/AG/AA genotypes | G allele frequency | ORhet | ORhomo | ORadd | P add a | ||
Cases | Controls | Cases | Controls | (95% CI)a | (95% CI)a | (95% CI)a | ||
GWAS | 35/287/511 | 185/1204/1705 | 0.214 | 0.254 | 0.76(0.63–0.92) | 0.50(0.32–0.77) | 0.73(0.63–0.86) | 9.30×10−5 |
Replication I | 38/254/517 | 127/856/1241 | 0.204 | 0.250 | 0.69(0.57–0.85) | 0.68(0.43–1.06) | 0.75(0.63–0.88) | 5.08×10−4 |
Replication II | 86/447/832 | 289/1547/2235 | 0.227 | 0.261 | 0.77(0.67–0.88) | 0.77(0.59–1.01) | 0.82(0.74–0.91) | 3.47×10−4 |
Combined All | 159/988/1860 | 601/3607/5181 | 0.217 | 0.256 | 0.74(0.67–0.81) | 0.68(0.56–0.83) | 0.78(0.72–0.84) | 1.19×10−10 |
Adjusted for age, gender, pack-year of smoking and the first principle component in GWAS, and for age, gender and pack-year of smoking in replication studies; ORhet: AG vs. AA; ORhomo: GG vs. AA; ORadd and Padd: derived from additive model.