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. Author manuscript; available in PMC: 2020 Nov 6.
Published in final edited form as: Nature. 2020 May 6;583(7814):90–95. doi: 10.1038/s41586-020-2265-1

Extended Data Table 3. Genome-wide significant (P<5x10-8) and suggestive (P<1x10-5) signals in our AD-PID and Li et al. (Nat Comm, 2015) CVID GWAS meta-analysis.

The AD-PID WGS cohort included 733 cases and 9225 controls, whereas the CVID Immunochip cohort included 778 cases and 10999 controls. The total number of shared meta-analysed variants was 95417. P-values are adjusted for individual study genomic inflation factor lambda. The selection of genes from each locus used in COGS analysis is described in Methods and Supplementary Note 3.

Locus Lead SNP Chr Position (GRCh37) Effect allele OR AD-PID P AD-PID OR Li et al. P Li et al. OR Meta P Meta Genes in COGS analysis Nearest Gene (dist. to lead SNP, bp)
Genome-wide significant signals in MAF>5% meta-analysis

6p21.33 rs2517529 6 31076978 G 1.39 1.30x10-09 1.41 1.96x10-10 1.40 1.5x10-18 - C6orf15 (2021)
16p13.13 rs2286974 16 11114512 G 0.77 6.23x10-06 0.73 6.18x10-08 0.75 2.2x10-12 PRM2, RMI2, PRM3, TNP2, SOCS1 CLEC16A (0)

Additional suggestive signals in MAF>5% meta-analysis

3p24.1 rs3806624 3 27764623 A 1.19 2.43x10-03 1.29 3.41x10-06 1.20 5.3x10-08 SLC4A7, TOP2B, SGOL1, NGLY1, OXSM, NEK10, EOMES, AZI2, CMC1, ZCWPW2 EOMES (416)
18p11.21 rs80191532 18 12752868 T 1.47 9.14x10-07 1.18 5.06x10-02 1.30 9.3x10-07 SEH1L, RNMT, LDLRAD4, PTPN2, FAM210A PSMG2 (27128)
1q31.3 rs12563449 1 198427282 T 0.87 7.66x10-02 0.56 2.13x10-08 0.74 1.3x10-07 LHX9, NEK7, C1orf53 ATP6V1G3 (65069)
11q24.3 rs10750403 11 128477472 C 1.17 4.07x10-03 1.21 5.13x10-04 1.20 7.0x10-06 ETS1 ETS1 (20018)
14q13.2 rs11851820 14 35803517 T 0.69 1.29x10-02 0.15 2.47x10-08 0.54 7.1x10-06 NFKBIA PSMA6 (16817)

Additional AD-PID genome-wide significant signal in MAF>0.5% GWAS

17p11.2 rs34557412 17 16852187 G 4.04 1.37x10-12 - - - - - TNFRSF13B (0)