Table 1 Major results from the FECD genome-wide association study.
From: Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy
Gene | SNP | Chr | Pos | All. | Discovery cohort ( n =3,968) | Replication Cohorts ( n =1,449) | Combined ( n =5,417) | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAF case | RAF ctrl | OR (95% CI) | P disc | OR (95% CI) | P repl | OR (95% CI) | P combined | Q p | |||||
KANK4 | rs79742895 | 1 | 62,782,860 | C/T | 0.0889 | 0.0474 | 2.07 (1.69, 2.54) | 2.5 × 10−12 | 2.18 (1.36, 3.50) | 1.2 × 10−03 | 2.09 (1.73, 2.52) | 1.2 × 10−14 | 0.83 |
ATP1B1 | rs1200114 | 1 | 169,060,489 | G/A | 0.4277 | 0.3411 | 1.43 (1.29, 1.57) | 8.0 × 10−13 | 1.53 (1.30, 1.79) | 1.7 × 10−07 | 1.45 (1.34, 1.58) | 9.9 × 10−19 | 0.48 |
LAMC1 | rs3768617 | 1 | 183,092,500 | A/G | 0.3553 | 0.4214 | 0.75 (0.68, 0.82) | 8.8 × 10−09 | 0.62 (0.53, 0.72) | 2.1 × 10−09 | 0.71 (0.65, 0.77) | 6.9 × 10−16 | 0.26 |
CFH | rs2274700 | 1 | 196,682,947 | T/C | 0.4287 | 0.3709 | 1.31 (1.19, 1.44) | 3.4 × 10−08 | 1.08 (0.91, 1.27) | 3.8 × 10−01 | 1.25 (1.15, 1.36) | 1.8 × 10−07 | 0.097 |
SLC25A22 | rs12223324 | 11 | 772,701 | A/G | 0.4826 | 0.5445 | 0.77 (0.70, 0.85) | 2.1 × 10−07 | 0.92 (0.79, 1.07) | 2.7 × 10−01 | 0.81 (0.75, 0.88) | 7.3 × 10−07 | 0.24 |
TCF4 | rs784257 | 18 | 53,397,199 | A/G | 0.4779 | 0.1796 | 5.77 (5.05, 6.60) | 3.1 × 10−146 | 3.89 (3.30, 4.59) | 6.3 × 10−59 | 4.94 (4.45, 5.48) | 2.5 × 10−200 | 0.0041 |