Table 3.
Effect estimates and credibility intervals of the association between copper score and variants for the NGS and replication cohort.
| Gene | Variant | NGS Cohort; Crude Analysis |
NGS Cohort; Full Model Analysis |
Replication Cohort; Crude Analysis |
Replication Cohort Full Model Analysis |
|---|---|---|---|---|---|
| NPC1 | rs850609010 | 0.307 (−0.074; 0.689) | 0.384 (−0.0029; 0.775) | 0.036 (−0.244; 0.318) | 0.039 (−0.240; 0.320) |
| RETN | rs852470997 | −0.731 (−1.315; −0.148) | −0.662 (−1.253; −0.073) | −0.478 (−0.977; 0.018) | −0.527 (−1.033; −0.016) |
| MT-C |
NC_002008.4: MT.7593T>C |
−0.267 (−0.487; −0.046) | −0.226 (−0.456; 0.0037) | −0.081 (−0.269; 0.108) | −0.278 (−0.278; 0.102) |
Association was analyzed using an ordinal regression with a proportional odds function on a probit scale, the non-reference allele was assessed additively. Crude analysis was a model only including copper score and genotype of studied variant. The full model is corrected for sex, ATP7A c.980C>T and ATP7B c.435G>A genotype. Estimates and 95% credibility interval are presented. Significant results are presented in bold.