Table 1.
Significantly associated genotyped SNPs at the HACE1 and LIN28B loci at 6q16
| Discovery cohorta European ancestry |
Italian replicationa (TaqMan) |
CHOP replicationa African American |
Combined | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNP | A1/A2 (protective/ risk allele) |
Freq A1 cases (n = 2,101 ) |
Freq A1 controls (n = 4,202) |
P b | Freq A1 cases (n = 351 ) |
Freq A1 controls (n = 780) |
P b | Freq A1 cases (n = 365) |
Freq A1 controls (n = 2,491 ) |
P c | Meta Pd |
ORe (95% CIf) |
| HACE1 | ||||||||||||
| rs4336470 | T/C | 0.30 | 0.35 | 1.8 × 10−8 | 0.30 | 0.34 | 0.060 | 0.62 | 0.70 | 1.4 × 10−3 | 2.7 × 10−11 | 1.26 (1.18–1.35) |
| rs9404576 | G/T | 0.30 | 0.35 | 3.4 × 10−8 | - | - | - | 0.62 | 0.70 | 1.3 × 10−3 | 1.8 × 10−10 | 1.27 (1.18-1.36) |
| rs4079063 | G/A | 0.43 | 0.47 | 4.0 × 10−5 | - | - | - | 0.70 | 0.78 | 1.3 × 10−4 | 1.3 × 10−7 | 1.20 (1.12-1.29) |
| rs2499663 | C/T | 0.43 | 0.47 | 4.5 × 10−5 | - | - | - | 0.70 | 0.78 | 1.5 × 10−4 | 1.6 × 10−7 | 1.21 (1.13-1.29) |
| rs2499667 | G/A | 0.43 | 0.47 | 2.6 × 10−5 | - | - | - | 0.71 | 0.78 | 2.6 × 10−4 | 1.2 × 10−7 | 1.21 (1.13-1.29) |
| LIN28B | ||||||||||||
| rs17065417 | C/A | 0.08 | 0.11 | 1.8 × 10−7 | 0.08 | 0.11 | 0.033 | 0.09 | 0.11 | 0.129 | 1.2 × 10−8 | 1.38 (1.23-1.54) |
No deviations from Hardy-Weinberg equilibrium were observed (P > 0.001) in all cohorts.
P-values were calculated by allelic test.
P-values were calculated by logistic regression with percent African admixture as covariate12.
Meta-analysis P-value calculated using METAL14.
OR, odds ratio of risk allele based on meta-analysis.
CI, confidence interval.