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. 2023 Apr 21;21:272. doi: 10.1186/s12967-023-04107-5

Table 3.

Results for the 42 independent lead SNPs identified in the MTAG-IBS analysis

Locus Lead SNP CHR A1/A2 BP Cross-trait analysis FRQ Nearest Gene Functional category Overlap with original GWAS IBS Overlap with previous GWAs on psychiatric traits Overlap with previous GWAs CADD RDB
Beta SE P
1 rs301806 1 T/C 8482078 − 0.009 0.002 1.67E-09 0.58 RERE Intronic NO Neuroticism Known 0.117 4
2 rs11206127 1 A/G 53713549 − 0.009 0.002 1.42E-08 0.43 LRP8 Intronic NO No Novel 0.128 6
3 rs12755507 1 T/C 176164865 0.01 0.002 8.03E-10 0.625 RFWD2 Intronic NO Depression Known 6.038 4
4 rs113198479 1 A/G 191347803 − 0.02 0.004 2.48E-08 0.953 RP11-309H21.2 Intergenic NO No Novel 1.241 6
5 rs72740550 1 A/G 197342380 − 0.011 0.002 6.02E-09 0.219 CRB1 Intronic NO Neuroticism & depression Known 5.063 7
6 rs115962846 2 A/G 58967058 − 0.015 0.003 3.68E-08 0.912 LINC01122 ncRNA_intronic NO Neuroticism Known 2.103 7
7 rs28496790 2 A/C 161950047 0.01 0.002 3.70E-09 0.708 AC009313.1 Intergenic NO No Novel 6.027 5
8 rs138218528 2 T/C 212676884 0.009 0.002 2.84E-08 0.667 ERBB4 Intronic NO Neuroticism & depression Known 8.481 6
9 rs62246276 3 T/G 9445173 − 0.011 0.002 2.28E-08 0.179 SETD5 Intronic NO No Novel 1.944 5
10 rs67416405 3 T/C 85539234 − 0.009 0.002 8.27E-09 0.353 CADM2 Intronic YES No Known 3.769 6
11 rs1729951 3 T/G 136500733 − 0.009 0.002 9.01E-09 0.389 RP11-102M11.2 Intergenic NO Neuroticism Known 0.078 NA
12 rs1442129 4 A/G 90849446 − 0.009 0.002 1.22E-08 0.453 MMRN1 Intronic NO No Novel 5.378 NA
13 rs77087420 4 A/G 123122856 0.018 0.003 2.64E-08 0.945 KIAA1109 Intronic NO No Novel 4.579 7
14 rs12513440 5 A/G 7259853 0.01 0.002 2.73E-08 0.243 RP11-404K5.3 Intergenic NO No Novel 0.327 5
15 rs3099439 5 T/C 87545318 − 0.011 0.002 1.14E-12 0.539 TMEM161B Intronic NO Depression Known 1.562 NA
16 rs4481363 5 A/C 164474719 0.009 0.001 1.01E-09 0.524 CTC-340A15.2 ncRNA_intronic NO Neuroticism & depression Known 6.522 6
16 rs180928232 5 A/G 166185949 − 0.012 0.002 4.46E-08 0.149 CTB-7E3.1 Intergenic NO Neuroticism Known 2.692 6
17 rs200977 6 T/C 27854301 0.015 0.002 1.04E-11 0.873 HIST1H3J Intergenic NO Neuroticism & depression Known 1.251 NA
17 rs2534664 6 A/G 31469591 0.01 0.002 2.63E-10 0.456 MICB Intronic NO Depression Known 3.484 NA
17 rs1144708 6 T/C 31710020 − 0.01 0.002 7.49E-10 0.357 MSH5:MSH5-SAPCD1 Intronic YES No Known 0.372 6
18 rs12374612 6 T/C 100955752 0.009 0.001 1.02E-08 0.478 ASCC3 Downstream NO Neuroticism Known 0.29 6
19 rs2189246 7 A/G 82444372 0.01 0.001 1.98E-10 0.523 PCLO Intronic NO Depression Known 1.139 7
20 rs6956352 7 A/G 109131367 0.009 0.002 1.64E-08 0.458 AC073071.1 Intergenic NO Depression Known 9.195 7
21 rs4726814 7 T/C 146691924 − 0.01 0.002 1.30E-08 0.275 CNTNAP2 Intronic NO No Novel 1.37 7
22 rs4478545 8 A/G 94672542 − 0.01 0.002 4.77E-09 0.285 LINC00535 ncRNA_intronic NO No Novel 1.326 6
23 rs3793577 9 A/G 23737627 − 0.01 0.002 3.46E-10 0.463 ELAVL2 Intronic NO Neuroticism Known 19.76 5
24 rs4744242 9 T/G 96236711 − 0.011 0.002 8.68E-13 0.336 FAM120A Intronic YES Neuroticism Known 2.858 6
25 rs10123941 9 T/C 120518162 − 0.01 0.002 3.96E-09 0.727 snoZ13_snr52 Intergenic NO Neuroticism Known 1.108 6
26 rs6584631 10 T/C 106656137 − 0.01 0.002 7.23E-09 0.244 SORCS3 Intronic NO Depression Known 0.167 4
27 rs4937872 11 A/G 112827715 − 0.012 0.002 7.15E-15 0.589 RP11-629G13.1 Intergenic YES Neuroticism Known 0.044 6
28 rs9530139 13 T/C 31847324 − 0.011 0.002 2.11E-08 0.194 B3GALTL Intronic NO Depression Known 0.529 6
29 rs9597797 13 T/G 59183795 − 0.01 0.002 1.42E-09 0.251 CTAGE16P Intergenic NO Neuroticism Known 0.278 7
30 rs2121708 14 A/G 42146572 − 0.009 0.001 8.26E-10 0.517 LRFN5 Intronic NO Depression Known 0.043 NA
31 rs35641442 14 A/G 75207263 0.009 0.002 6.65E-09 0.459 FCF1 Intergenic NO Neuroticism & depression Known 11.4 7
32 rs1862743 16 A/C 60743834 − 0.009 0.001 1.08E-08 0.492 GNPATP Intergenic NO No Novel 1.06 6
33 rs11877758 18 T/G 35138110 − .,012 0.002 1.28E-13 0,692 CELF4 Intronic NO Neuroticism & depression Known 2.718 7
33 rs2978362 18 T/C 32959397 − 0.008 0.001 2.65E-08 0.527 ZNF396 Intergenic NO Depression Known 1.024 NA
34 rs12958048 18 A/G 53101598 0.01 0.002 4.76E-11 0,333 TCF4 Intronic NO Neuroticism Known 2,08 5
34 rs17410557 18 T/C 50776391 − .,009 0.002 1.13E-08 0,606 DCC Intronic NO Neuroticism & depression Known 4.502 7
35 rs2111530 19 A/G 31891006 − 0.009 0.002 9.47E-09 0.602 AC007796.1 ncRNA_intronic NO No Novel 17.04 7
36 rs2024568 20 T/C 44732089 0.011 0.002 1.52E-10 0.246 RPL13P2 Intergenic NO Neuroticism & depression Known 0.149 6
37 rs11090039 22 A/G 41496800 0.012 0.002 2.87E-13 0.284 EP300 Intronic NO Neuroticism Known 9.707 5

Overlap with previous GWAS was examined by identifying genome-wide significant SNPs within ± 5000 kb in the MTAG genome-wide significant for IBS and original GWAS genome-wide significant SNPs for each trait (i.e. neuroticism, depression and anxiety). If there were overlapping SNPs within this distance, they were considered independent signal if r2 > 0.2. The independent signals identified (indicated as novel) were further confirmed using conditonal analysis

CHR chromosome; A1 effect allele with respect to the Beta; A2 alternate allele; BP base pair position Genome Reference Consortium Human Build 37 (GRCh37); SE standard error; FRQ frequency of the A1; CADD Combined Annotation Dependent Depletion score; RDB RegulomeDB score