Table 1. Association with morning plasma cortisol of SNPs representing signals in the SERPINA6/SERPINA1 region from meta-analyses of discovery genome-wide association studies and of replication studies.
| GWAMA (n = 12,597) | REPLICATION (n = 2,795) | |||||||||||
| SNP ID | Chr | Number of supporting SNPs | Position (b37) | Alleles effect/other | EAF | Effects | Beta (95%CI) | Pa | EAF | Effects | Beta (95%CI) | Pa |
| rs12589136 | 14 | 30 | 94,793,686 | T/G | 0.22 | +++++++++++ | 0.10 (0.07,0.13) | 3.3×10−12 | 0.21 | +++ | 0.12 (0.06,0.18) | 0.00024 |
| rs2749527 | 14 | 17 | 94,827,068 | T/C | 0.49 | ----------- | −0.08 (−0.11,−0.06) | 5.2×10−11 | n/a | |||
| rs2749529b | 14 | n/a | 94,820,459 | T/A | 0.47 | +++++++++++ | 0.07 (0.05,0.10) | 2.6×10−9 | 0.45 | +++ | 0.06 (0.01,0.11) | 0.019 |
| rs11621961 | 14 | 0 | 94,769,476 | T/C | 0.36 | --------?— | −0.08 (−0.10,−0.05) | 4.0×10−8 | 0.37 | --- | −0.08 (−0.14,−0.03) | 0.003 |
a
adjusted for age and sex.
b
rs2749527 was replaced with rs2749529 (r2 = 0.905, D' = 1.0) as rs2749527 failed manufacture for replication. LD patterns (from SNAP HapMap CEU build 22): rs11621961-rs12589136 (r2 = 0.131), rs11621961-rs2749529 (r2 = 0.260), rs12589136-rs2749529 (r2 = 0.291), rs11621961-rs2749527 (r2 = 0.255). Independent SNPs were defined by PLINK using the clumping function (within 500kb, LD r2 >0.2, P-value <5x10−5)