Table 1.
Genome-wide significant associations. Four loci indexed by genome-wide significant index SNPs in the XDX GWAS (n=46,008 cases, 19,526 controls) implicate a number of candidate genes. Standard errors are for logistic regression coefficients and on the natural log scale (ln(OR)). OR, Odds Ratio; SE, Standard Error; A1, Effect Allele; A2, Non-Effect Allele; Info, Imputation Information Score; Z, Regression coefficient test statistic; P, p-value.
| Locus | Chr | Range (hg19) | Index SNP | Position | A1 | A2 | Info | OR | SE | P | Functional Candidate Genes |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 2q32.1 | 183,279,530-183,680,199 | rs4322805 | 183,535,884 | A | G | - | 1.07 | 0.01 | 2.92 × 10−8 | PDE1A, PPP1R1C |
| 2 | 3p21.31-3p21.2 | 46,381,000-52,161,508 | 3:48644636:G:A | 48,644,636 | A | G | 0.78 | 1.36 | 0.06 | 3.99 × 10−08 | AMIGO3, AMT, APEH, ARIH2, ATRIP, BSN, C3orf84, CCDC36, CCDC51, CCDC71, CDHR4, CELSR3, COL7A1, DAG1, DALRD3, DHX30, FBXW12, GMPPB, GPX1, IMPDH2, IP6K1, IP6K2, KLHDC8B, LAMB2, MON1A, MST1, NCKIPSD, NDUFAF3, NICN1, P4HTM, PFKFB4, PLXNB1, PRKAR2A, QARS, QRICH1, RBM6, RHOA, RNF123, SHISA5, SLC25A20, SLC26A6, SMARCC1, SPINK8, TCTA, TEX264, TMA7, TREX1, UCN2, UQCRC1, USP19, USP4, WDR6, ZNF589 |
| 3 | 3q13.32 | 117,453,031-117,997,735 | rs6780942 | 117,828,678 | T | C | 0.96 | 1.10 | 0.01 | 1.11 × 10−10 | IGSF11 |
| 4 | 10q25.1 | 106,372,083-107,364,513 | rs12265655 | 106,744,534 | C | T | 0.99 | 0.92 | 0.01 | 1.47 × 10−09 | SORC3* |
SORCS3 was implicated by overlap, not functional connection.