Table 2. Functional consequences of variants in the SERPINA6/A1 locus significantly associated with morning plasma cortisol in GWAMA, and of the Leuven variant, in CROATIA-Korcula.
| rs11621961 | Beta (95%CI) | P c | |||
| TT | CT | CC | |||
| Total cortisola | 655 (618,694) [129] | 664 (644,685)[411] | 675 (654,696)[357] | −0.05 (−0.14,0.05) | 0.305 |
| Calculated free cortisol | 42 (35.0,51)[56] | 47 (42,52)[126] | 50 (46,55)[136] | −0.14 (−0.28,0.00) | 0.049 |
| Measured free cortisolb | 14 (11,17)[27] | 14 (11,16)[70] | 13 (10,16)[67] | 0.01 (−0.2,0.22) | 0.933 |
| Total CBG | 0.90 (0.82,0.99)[56] | 0.90 (0.85,0.94)[126] | 0.96 (0.92,1.01)[136] | −0.12 (−0.26,0.02) | 0.103 |
| RCL/total CBG | 0.76 (0.71,0.80)[56] | 0.77 (0.74,0.79)[125] | 0.76 (0.73,0.78)[136] | 0.01 (−0.14,0.15) | 0.940 |
| Cortisol binding activity | 503 (473,532)[56] | 492 (474,511)[125] | 531 (512,550)[136] | −0.17 (−0.32,−0.03) | 0.016 |
| α1-antitrypsin | 2.74 (2.37,3.16)[56] | 2.74 (2.51,2.99)[124] | 2.66 (2.43,2.91)[134] | 0.02 (−0.14,0.17) | 0.840 |
a
Data for total cortisol is from the whole Croatia-Korcula sample, n = 898.
b
Samples selected for measured free cortisol assay were age and sex matched homozygotes at rs12589136.
c
adjusted for age, sex, and first three principal components, using kinship matrix derived from GWAS data.
Data are geometric mean (95% CI)[n]. Cortisol values are nmol/L, CBG µmol/L, cortisol binding activity nmol/L, and α1-antitrypsin g/L. RCL = reactive centre loop.