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. 2023 Jan 29;16:16. doi: 10.1186/s12920-023-01436-8

Table 2.

The top hit probes identified in SMR analyses

eQTL data Probe Gene CHR Top SNP OR (95% CI) PeQTL PGWAS Beta SE PSMR PHEIDI Q value
CAGE ILMN_2150787 HLA-C 6 rs2523578 1.14 (1.11–1.17) 1.55 × 10− 65 2.62 × 10− 24 − 0.2378 0.0272 2.10 × 10− 18 9.48 × 10− 12 5.73 × 10− 13
ILMN_1682717 IER3 6 rs2233980 0.85 (0.83–0.88) 2.05 × 10− 60 5.47 × 10− 22 − 0.2065 0.0249 1.07 × 10− 16 1.89 × 10− 03 7.30 × 10− 12
ILMN_1661439 FLOT1 6 rs3130985 0.85 (0.83–0.88) 6.93 × 10− 37 2.55 × 10− 22 − 0.2666 0.0345 1.16 × 10− 14 2.68 × 10− 02 3.53 × 10− 10
ILMN_1700067 BTN3A2 6 rs9393710 0.89 (0.86–0.92) 9.06 × 10− 237 3.86 × 10− 12 0.0832 0.0123 1.24 × 10− 11 9.13 × 10− 08 2.11 × 10− 07
ILMN_1820787 BTN2A1 6 rs3734544 0.91 (0.88–0.94) 3.34 × 10− 189 1.40 × 10− 10 − 0.0877 0.0140 3.60 × 10− 10 1.40 × 10− 08 3.93 × 10− 06
ILMN_1721113 HLA-C 6 rs9266075 1.08 (1.05–1.1) 2.99 × 10− 183 5.90 × 10− 10 − 0.0867 0.0143 1.35 × 10− 09 1.12 × 10− 03 1.02 × 10− 05
ILMN_1803945 HCP5 6 rs2596495 0.85 (0.83–0.88) 5.73 × 10− 14 1.58 × 10− 21 0.4716 0.0798 3.48 × 10− 09 3.20 × 10− 02 1.94 × 10− 05
ILMN_2044927 RNF5 6 rs192471087 0.91 (0.89–0.94) 2.49 × 10− 37 1.28 × 10− 10 − 0.1974 0.0343 8.59 × 10− 09 1.29 × 10− 04 3.00 × 10− 05
ILMN_1804571 ZKSCAN4 6 rs13200462 0.89 (0.86–0.92) 2.61 × 10− 19 1.37 × 10− 13 − 0.3193 0.0558 1.08 × 10− 08 1.88 × 10− 02 3.00 × 10− 05
ILMN_1660436 HSPA1A 6 rs494620 1.07 (1.05–1.1) 1.40 × 10− 74 1.81 × 10− 09 0.1417 0.0248 1.10 × 10− 08 2.16 × 10− 09 3.00 × 10− 05
GTEx ENSG00000271581.1 XXbac-BPG248L24.12 6 rs9266244 1.14 (1.11–1.17) 1.52 × 10− 16 2.96 × 10− 24 0.2043 0.0319 1.44 × 10− 10 4.34 × 10− 07 6.22 × 10− 06
ENSG00000186470.9 BTN3A2 6 rs68112369 0.89 (0.86–0.92) 9.15 × 10− 70 1.14 × 10− 11 0.1088 0.0172 2.28 × 10− 10 1.07 × 10− 03 6.22 × 10− 06
ENSG00000224389.4 C4B 6 rs1270942 0.87 (0.84–0.9) 3.63 × 10− 19 1.44 × 10− 16 − 0.1233 0.0203 1.23 × 10− 09 5.84 × 10− 02 1.48 × 10− 05
ENSG00000244731.3 C4A 6 rs116667074 0.87 (0.84–0.9) 5.15 × 10− 19 1.67 × 10− 15 0.1382 0.0233 2.88 × 10− 09 1.08 × 10− 01 1.96 × 10− 05
ENSG00000214894.2 LINC00243 6 rs3094222 0.85 (0.83–0.88) 8.03 × 10− 12 3.93 × 10− 22 − 0.3086 0.0553 2.38 × 10− 08 5.63 × 10− 03 1.04 × 10− 04
ENSG00000204644.5 ZFP57 6 rs2747431 0.93 (0.91–0.96) 2.03 × 10− 85 5.51 × 10− 08 − 0.0566 0.0108 1.62 × 10− 07 7.31 × 10− 05 4.88 × 10− 04
ENSG00000204536.9 CCHCR1 6 rs1265087 0.93 (0.91–0.95) 4.64 × 10− 22 1.01 × 10− 08 − 0.2081 0.0423 8.60 × 10− 07 7.49 × 10− 04 1.91 × 10− 03
ENSG00000137312.10 FLOT1 6 rs3094222 0.85 (0.83–0.88) 3.74 × 10− 08 3.93 × 10− 22 − 1.3396 0.2802 1.74 × 10− 06 1.11 × 10− 02 2.49 × 10− 03
ENSG00000231852.2 CYP21A2 6 rs7763805 0.89 (0.86–0.92) 2.24 × 10− 10 5.15 × 10− 13 − 0.1665 0.0349 1.85 × 10− 06 3.40 × 10− 01 2.49 × 10− 03
ENSG00000204622.6 HLA-J 6 rs1611336 1.07 (1.04–1.09) 6.54 × 10− 20 8.13 × 10− 08 0.1162 0.0251 3.78 × 10− 06 4.10 × 10− 04 4.10 × 10− 03

For a full list of the significant probes identified in the SMR analyses, please see Additional file 1: Table S4. The GWAS summarized data were provided by the study of Sakaue et al. and can be downloaded at http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST90018001-GCST90019000/GCST90018866/harmonised/. The CAGE and GTEx eQTL data can be downloaded at https://cnsgenomics.com/data/SMR/#eQTLsummarydata.

OR (95% CI) is the odds ratio and the corresponding 95% confidence interval for the top SNPs. PeQTL is the P value of the top associated cis-eQTL in the eQTL analysis, and PGWAS is the P value for the top associated cis-eQTL in the GWAS analysis. Beta is the estimated effect size in SMR analysis, SE is the corresponding standard error, PSMR is the P value for SMR analysis and PHEIDI is the P value for the HEIDI test

CAGE Consortium for the Architecture of Gene Expression, CHR chromosome, CI confidence interval, eQTL expression quantitative trait loci, GTEx Genotype-Tissue Expression, HEIDI heterogeneity in dependent instruments, OR odds ratio, SNP single-nucleotide polymorphism, SMR summary data-based Mendelian randomization, FDR false discovery rate, GWAS genome-wide association studies, IgAN immunoglobulin A nephropathy