Table 2.
Association Results of Four Replicated Variants in Three Independent CTD Cohorts without 22q11.2 Deletion and Meta-Analysis, as well as Primary Results in the 22q11.2DS Cohort
| Datasets | No. of Individuals |
rs178252 (G > A) |
rs165912 (C > T) |
rs6004160 (G > A) |
rs738059 (G > A) |
||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAFa | OR (95% CI)b | p Value | AAF | OR (95% CI) | p Value | AAF | OR (95% CI) | p Value | AFF | OR (95% CI) | p Value | ||
| 22q11.2DS cohort | 469:424d | 0.720 | 1.67 (1.24–2.25) | 6.90 × 10−4 | 0.393 | 1.62 (1.23–2.14) | 6.03 × 10−4 | 0.939 | 1.65 (1.25–2.18) | 3.66 × 10−4 | 0.392 | 1.64 (1.24–2.16) | 4.80 × 10−4 |
| Meta-analysisc | 1.16 (1.04–1.30) | 0.006 | 1.10 (1.00–1.21) | 0.04 | 1.10 (1.00–1.21) | 0.04 | 1.10 (1.00–1.21) | 0.04 | |||||
| eQTL of CRKLe | Y | N | Y | N | |||||||||
| Open chromatin regionf | Y | N | N | N | |||||||||
Relative risk based on comparison of heterozygote to common homozygous genotypes.
Likelihood ratio test comparing the full model with inherited genotype modeled as an additive effect and the unrestricted maternal genotype to the model with just the unrestricted maternal genotype.
Meta-analyses of three CTD cohorts without 22q11.2 deletion.
Ratio of affected individuals to controls.
eQTL data was downloaded from GTEx.
Determination of whether the variants reside in open chromatin region is based on ATAC-seq data from human induced pluripotent stem cells and human embryonic stem cells51