Table 1. Novel/missed and refined variants from 1000 genomes imputation-based analysis.
Type | Trait | Lead SNP in present study (association Pa) | Chromosome band | Gene | MAF | Estimated R2 b | Alleles | Odds ratio (95% CI) | Lead SNP in original Study (association P, LDc, physical distance, conditional Pd) | Nearest SNP in literature (association P, LDc, physical distance, conditional Pd) |
---|---|---|---|---|---|---|---|---|---|---|
Missed | T1D | rs61839660 P=5.1 × 10−9 (1.8 × 10−8) | 10p15 | IL2RA intron 7 | 0.09 | 0.87 (0.90) | C->T | 1.60 (1.44–1.76) | NA | rs1225130718 (P=2.9 × 10−5; LD=0.74 (0.38) 28.8 kb Pcon=3.7 × 10−5) |
Missed | T2D | rs7018475 P=2.5 × 10−8 (6.1 × 10−8) | 9p21 | CDKN2B -128 kb | 0.24 | 0.79 (0.85) | T->G | 0.74 (0.64–0.85) | NA | rs1075728220 (P=2.7 × 10−3; LD=0.97 (0.41) 3.7 kb Pcon=3.7 × 10−7) rs1081166119, 20 (P=7.1 × 10−4; LD=0.50 (0.02) 3.6 kb Pcon=1.5 × 10−7) Pcon=0.5e |
Refined | CD | rs11209026 P=4.2 × 10−21 (1.1 × 10−17) | 1p31 | IL23R exon 9 | 0.06 | 0.90 (0.91) | G->A | 3.18 (2.91–3.44) | rs11805303 (P=5.8 × 10−12; LD=0.57 (0.01) 30.4 kb Pcon=7.6 × 10−17) | rs1146580422 (P=7.7 × 10−20; LD=1.0 (0.88) 3.4 kb Pcon=7.9 × 10−3) |
Refined | T1D | rs1265564 P=1.0 × 10−16 (1.1 × 10−16) | 12q24 | CUX2 intron 4 | 0.48 | 0.87 (0.92) | A->C | 0.69 (0.60–0.78) | rs17696736 (P=1.5 × 10−14; LD=0.43 (0.18) 778.4 kb Pcon=5.3 × 10−6) | rs318450418 (P=1.4 × 10−14; LD=0.74 (0.47) 176.2 kb Pcon=1.1 × 10−4) |
Abbreviations: CD: Crohns's disease; T1D: type 1 diabetes; T2D: type 2 diabetes.
The first value is based on MACH/MACH2DAT and the value in brackets is based on BEAGLE/PLINK.
Imputation quality (estimated R2) based on MaCH and Beagle (values in brackets).
LD between lead SNP reported in this study and SNP in this column based on the same version of the 1000 genomes data, measured by D-prime (R2).
Conditional P-value of the lead SNP reported in this study conditioned on SNP in this column.
Conditional P-value of the lead SNP on the two-SNP (rs10757282 and rs10811661) haplotype.