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. 2021 Aug 6;11:16013. doi: 10.1038/s41598-021-94994-9

Table 3.

Novel loci associated with low PRS T1D.

CHR BP (hg38) SNP dbSNP allele allele_Frq Quality Score (r2) Genotyped n OR L95 U95 P n OR L95 U95 P Func.refGene Gene.refGene
Low PRS cases versus low PRS controls All cases versus all controls in the cohort
a. First cohort
2 1,07,27,877 chr2:10727877:C:T rs147458998 T 0.00203 0.718 Imputed 6118 11.06 4.818 25.4 1.45E−08 9450 3.201 1.508 6.795 0.002454 Intronic ATP6V1C2
2 1,71,26,012 chr2:17126012:C:T rs56806432 T 0.03445 0.97878 Imputed 6118 1.936 1.539 2.437 1.74E−08 9450 1.149 0.976 1.352 0.09531 Intergenic FAM49A;RAD51AP2
2 1,71,59,712 chr2:17159712:C:A rs16983255 A 0.03454 0.97987 Imputed 6118 1.916 1.523 2.411 2.85E−08 9450 1.142 0.9704 1.343 0.1101 Intergenic FAM49A;RAD51AP2
2 1,71,59,927 chr2:17159927:C:T rs60975145 T 0.03448 0.9799 Imputed 6118 1.927 1.532 2.425 2.17E−08 9450 1.148 0.9755 1.351 0.09667 Intergenic FAM49A;RAD51AP2
2 5,15,13,429 chr2:51513429:G:A rs28958299 A 0.00609 0.98423 Imputed 6118 3.4 2.194 5.269 4.39E−08 9450 1.527 1.05 2.223 0.02693 ncRNA_intronic LOC730100
2 5,14,87,374 chr2:51487374:C:CA CA 0.0063 0.98739 Imputed 6118 3.415 2.201 5.298 4.25E−08 9450 1.566 1.079 2.275 0.0184
2 5,15,04,453 chr2:51504453:C:T rs57623361 T 0.00667 0.98795 Imputed 6118 3.251 2.129 4.964 4.75E−08 9450 1.532 1.07 2.192 0.0198 ncRNA_intronic LOC730100
2 5,15,31,113 chr2:51531113:T:A rs28957091 A 0.00679 0.98915 Imputed 6118 3.408 2.239 5.188 1.07E−08 9450 1.611 1.124 2.308 0.009372 ncRNA_intronic LOC730100
2 5,15,28,593 chr2:51528593:T:C rs1406418 C 0.00716 0.99126 Imputed 6118 3.166 2.094 4.789 4.74E−08 9450 1.531 1.079 2.172 0.01703 ncRNA_intronic LOC730100
2 5,15,30,016 chr2:51530016:T:G rs28958318 G 0.0073 0.99201 Imputed 6118 3.205 2.122 4.84 3.10E−08 9450 1.579 1.113 2.24 0.01039 ncRNA_intronic LOC730100
2 5,15,20,595 chr2:51520595:C:T rs28957085 T 0.00601 0.99376 Imputed 6118 3.575 2.31 5.533 1.09E−08 9450 1.616 1.113 2.346 0.01167 ncRNA_intronic LOC730100
2 5,14,86,782 chr2:51486782:AG:A A 0.00593 0.99402 Imputed 6118 3.445 2.213 5.364 4.30E−08 9450 1.476 1.01 2.156 0.04423 ncRNA_intronic LOC730100
2 5,15,25,890 chr2:51525890:A:G rs1528792 G 0.00684 0.99484 Imputed 6118 3.27 2.159 4.951 2.18E−08 9450 1.529 1.075 2.174 0.01814 ncRNA_intronic LOC730100
2 5,15,28,054 chr2:51528054:T:C rs28957087 C 0.00735 0.99609 Imputed 6118 3.306 2.195 4.979 1.04E−08 9450 1.607 1.135 2.276 0.007525 ncRNA_intronic LOC730100
9 1,42,29,050 chr9:14229050:G:C rs10961435 C 0.00389 0.95755 Imputed 6118 4.762 2.753 8.237 2.39E−08 9450 1.806 1.103 2.957 0.01885 Intronic NFIB
10 4,42,60,591 chr10:44260591:C:T rs746298 T 0.00446 0.98941 Imputed 6118 4.175 2.552 6.83 1.26E−08 9450 2.304 1.485 3.576 0.000197 Intergenic LINC00841;C10orf142
10 6,06,64,647 chr10:60664647:T:C rs1816797 C 0.00183 0.93498 Imputed 6118 8.974 4.087 19.7 4.55E−08 9450 4.188 2.04 8.599 9.52E−05 Intronic ANK3
12 3,46,99,338 chr12:34699338:G:T rs12424461 T 0.00231 0.85309 Imputed 6118 8.528 4.101 17.73 9.54E−09 9450 2.127 1.105 4.094 0.02396 Intergenic ALG10;NONE
b. Switched cohort
2 6,24,48,472 chr2:62448472:C:T rs78389245 T 0.00223 0.93017 Imputed 6460 6.453 3.353 12.42 2.37E−08 9465 2.246 1.248 4.041 0.006953 Intergenic B3GNT2;TMEM17
2 6,24,42,411 chr2:62442411:A:G rs75610843 G 0.00349 0.96936 Imputed 6460 5.023 2.83 8.917 3.54E−08 9465 2.114 1.278 3.498 0.003576 Intergenic B3GNT2;TMEM17
2 6,24,46,036 chr2:62446036:C:T rs76505469 T 0.0031 0.96962 Imputed 6460 5.655 3.117 10.26 1.20E−08 9465 1.959 1.156 3.319 0.01245 Intergenic B3GNT2;TMEM17
2 6,24,40,366 chr2:62440366:C:T rs75921605 T 0.00346 0.97057 Imputed 6460 5.023 2.83 8.917 3.54E−08 9465 2.114 1.278 3.498 0.003576 Intergenic B3GNT2;TMEM17
2 7,03,52,234 chr2:70352234:A:G rs116081627 G 0.002 0.91477 Imputed 6460 7.679 3.755 15.7 2.34E−08 9465 1.911 1 3.651 0.05001 Intergenic FAM136A;TGFA
3 4,89,51,134 chr3:48951134:T:C rs143836109 C 0.00397 0.58298 Imputed 6460 4.986 2.801 8.875 4.77E−08 9465 1.782 1.059 2.999 0.02969 Intronic ARIH2
4 8,83,57,077 chr4:88357077:T:C rs76377119 C 0.002 0.71507 Imputed 6460 9.545 4.389 20.76 1.26E−08 9465 4.076 1.927 8.622 0.000237 Intergenic LOC105369192;HERC6
4 14,15,56,946 chr4:141556946:C:T rs72615940 T 0.00275 0.95975 Imputed 6460 6.361 3.301 12.26 3.25E−08 9465 2.651 1.469 4.784 0.001204 Intergenic LINC02432;IL15
4 14,15,57,792 chr4:141557792:T:C rs115762557 C 0.00279 0.96694 Imputed 6460 6.046 3.166 11.54 4.96E−08 9465 2.474 1.368 4.475 0.002725 Intergenic LINC02432;IL15
4 14,15,58,035 chr4:141558035:A:C rs72615945 C 0.00278 0.96769 Imputed 6460 6.046 3.166 11.54 4.96E−08 9465 2.474 1.368 4.475 0.002725 Intergenic LINC02432;IL15
4 14,15,58,497 chr4:141558497:G:GATTTTCA GATTTTCA 0.00278 0.96769 Imputed 6460 6.046 3.166 11.54 4.96E−08 9465 2.474 1.368 4.475 0.002725
4 14,15,58,842 chr4:141558842:C:T rs72615950 T 0.00278 0.96771 Imputed 6460 6.046 3.166 11.54 4.96E−08 9465 2.474 1.368 4.475 0.002725 Intergenic LINC02432;IL15
4 14,15,59,253 chr4:141559253:G:A rs72615951 A 0.00278 0.96771 Imputed 6460 6.046 3.166 11.54 4.96E−08 9465 2.474 1.368 4.475 0.002725 Intergenic LINC02432;IL15
4 14,15,59,260 chr4:141559260:G:A rs72615952 A 0.00278 0.96771 Imputed 6460 6.046 3.166 11.54 4.96E−08 9465 2.474 1.368 4.475 0.002725 Intergenic LINC02432;IL15
4 14,15,57,845 chr4:141557845:T:A rs77083164 A 0.00278 0.96773 Imputed 6460 6.046 3.166 11.54 4.96E−08 9465 2.474 1.368 4.475 0.002725 Intergenic LINC02432;IL15
4 14,15,57,678 chr4:141557678:A:G rs75736694 G 0.00278 0.96774 Imputed 6460 6.046 3.166 11.54 4.96E−08 9465 2.474 1.368 4.475 0.002725 Intergenic LINC02432;IL15
4 14,15,58,749 chr4:141558749:G:A rs72615948 A 0.00278 0.96774 Imputed 6460 6.046 3.166 11.54 4.96E−08 9465 2.474 1.368 4.475 0.002725 Intergenic LINC02432;IL15
4 14,15,57,600 chr4:141557600:A:G rs72615942 G 0.00278 0.96775 Imputed 6460 6.046 3.166 11.54 4.96E−08 9465 2.474 1.368 4.475 0.002725 Intergenic LINC02432;IL15
4 14,15,58,193 chr4:141558193:G:C rs72615946 C 0.00278 0.96775 Imputed 6460 6.046 3.166 11.54 4.96E−08 9465 2.474 1.368 4.475 0.002725 Intergenic LINC02432;IL15
4 14,15,58,199 chr4:141558199:C:T rs72615947 T 0.00278 0.96775 Imputed 6460 6.046 3.166 11.54 4.96E−08 9465 2.474 1.368 4.475 0.002725 Intergenic LINC02432;IL15
4 14,15,57,291 chr4:141557291:T:C rs72615941 C 0.00278 0.96776 Imputed 6460 6.046 3.166 11.54 4.96E−08 9465 2.474 1.368 4.475 0.002725 Intergenic LINC02432;IL15
4 14,15,56,501 chr4:141556501:C:T rs17007424 T 0.00256 0.97308 Imputed 6460 6.361 3.301 12.26 3.25E−08 9465 2.454 1.35 4.462 0.003252 Intergenic LINC02432;IL15
4 14,15,56,393 chr4:141556393:A:G rs72615939 G 0.00257 0.97583 Imputed 6460 6.361 3.301 12.26 3.25E−08 9465 2.454 1.35 4.462 0.003252 Intergenic LINC02432;IL15
4 14,15,56,881 chr4:141556881:C:T rs200157898 T 0.00257 0.97584 Imputed 6460 6.361 3.301 12.26 3.25E−08 9465 2.454 1.35 4.462 0.003252 Intergenic LINC02432;IL15
4 14,15,57,024 chr4:141557024:TACTC:T T 0.00257 0.97591 Imputed 6460 6.361 3.301 12.26 3.25E−08 9465 2.454 1.35 4.462 0.003252 Intergenic LINC02432;IL15
5 15,94,80,234 chr5:159480234:C:T rs117952033 T 0.00138 0.83707 Imputed 6460 14.31 5.602 36.55 2.68E−08 9465 4.707 1.862 11.9 0.001062 Intergenic LINC01845;LINC01847
5 15,94,99,811 chr5:159499811:C:T rs10515798 T 0.00148 0.84382 Imputed 6460 14.31 5.602 36.55 2.68E−08 9465 4.707 1.862 11.9 0.001062 Intergenic LINC01845;LINC01847
6 17,02,83,857 chr6:170283857:C:T rs3734776 T 0.00695 0.93794 Imputed 6460 3.602 2.351 5.518 3.87E−09 9465 1.912 1.334 2.741 0.000422 Exonic DLL1
6 17,02,88,217 chr6:170288217:C:T rs3818115 T 0.00634 0.93938 Imputed 6460 3.633 2.336 5.649 1.02E−08 9465 1.819 1.255 2.638 0.001589 Intronic DLL1
6 17,02,84,744 chr6:170284744:C:T rs2273214 T 0.00632 0.94094 Imputed 6460 3.633 2.336 5.649 1.02E−08 9465 1.819 1.255 2.638 0.001589 Intronic DLL1
6 17,02,90,297 chr6:170290297:C:T rs3823301 T 0.00644 0.94127 Imputed 6460 3.639 2.356 5.619 5.74E−09 9465 1.791 1.241 2.585 0.001843 UTR5 DLL1
6 17,02,87,112 chr6:170287112:A:C rs3800238 C 0.00632 0.94131 Imputed 6460 3.633 2.336 5.649 1.02E−08 9465 1.819 1.255 2.638 0.001589 Intronic DLL1
6 17,02,87,178 chr6:170287178:C:A rs3800237 A 0.00861 0.94352 Imputed 6460 3.085 2.12 4.49 3.98E−09 9465 1.543 1.126 2.115 0.007003 Intronic DLL1
7 7,20,10,707 chr7:72010707:G:C rs118182411 C 0.00376 0.93903 Imputed 6460 4.074 2.474 6.71 3.42E−08 9465 1.513 0.9562 2.393 0.07696 Intronic CALN1
7 8,93,18,777 chr7:89318777:C:T rs77205087 T 0.00582 0.9747 Imputed 6460 3.447 2.238 5.308 1.94E−08 9465 1.321 0.8943 1.951 0.1619 Intronic ZNF804B
7 8,93,09,079 chr7:89309079:C:T rs76060515 T 0.00578 0.97724 Imputed 6460 3.447 2.238 5.308 1.94E−08 9465 1.321 0.8943 1.951 0.1619 Intronic ZNF804B
7 10,08,14,253 chr7:100814253:G:A rs3890144 A 0.00757 0.95297 Imputed 6460 3.061 2.066 4.537 2.47E−08 9465 1.352 0.959 1.906 0.0853 Intronic EPHB4
7 10,07,99,808 chr7:100799808:C:T rs60224425 T 0.00756 0.95354 Imputed 6460 3.021 2.043 4.467 3.01E−08 9465 1.403 1 1.966 0.04969 Intergenic ZAN;EPHB4
9 11,02,69,080 chr9:110269080:T:G rs10816957 G 0.00712 0.94616 Imputed 6460 3.054 2.063 4.52 2.44E−08 9465 1.306 0.9282 1.838 0.1254 Intergenic TXN;TXNDC8
12 3,36,97,680 chr12:33697680:T:C rs11052850 C 0.00691 0.99026 Imputed 6460 2.758 1.918 3.966 4.37E−08 9465 1.131 0.8173 1.565 0.4581 Intergenic SYT10;ALG10
12 3,36,97,996 chr12:33697996:G:A rs1352395 A 0.0069 0.9906 Imputed 6460 2.758 1.918 3.966 4.37E−08 9465 1.131 0.8173 1.565 0.4581 Intergenic SYT10;ALG10
12 3,36,95,324 chr12:33695324:G:A rs12228218 A 0.00689 0.9914 Imputed 6460 2.758 1.918 3.966 4.37E−08 9465 1.131 0.8173 1.565 0.4581 Intergenic SYT10;ALG10
12 3,36,80,534 chr12:33680534:G:A rs4142676 A 0.00691 0.99149 Imputed 6460 2.758 1.918 3.966 4.37E−08 9465 1.131 0.8173 1.565 0.4581 Intergenic SYT10;ALG10
12 3,36,93,014 chr12:33693014:T:C rs11052843 C 0.00689 0.99193 Imputed 6460 2.758 1.918 3.966 4.37E−08 9465 1.131 0.8173 1.565 0.4581 Intergenic SYT10;ALG10
12 3,36,97,208 chr12:33697208:T:C rs2087269 C 0.00689 0.992 Imputed 6460 2.758 1.918 3.966 4.37E−08 9465 1.131 0.8173 1.565 0.4581 Intergenic SYT10;ALG10
12 3,36,95,992 chr12:33695992:G:T rs11052847 T 0.00689 0.99201 Imputed 6460 2.758 1.918 3.966 4.37E−08 9465 1.131 0.8173 1.565 0.4581 Intergenic SYT10;ALG10
12 13,29,15,197 chr12:132915197:G:A rs11147161 A 0.00503 0.96369 Imputed 6460 3.768 2.344 6.059 4.36E−08 9465 1.366 0.8825 2.115 0.1617 Intergenic LOC101928530;ZNF605
12 13,28,98,032 chr12:132898032:A:C rs12230138 C 0.00501 0.96567 Imputed 6460 3.899 2.436 6.239 1.41E−08 9465 1.411 0.9143 2.177 0.1199 Intergenic LOC101928530;ZNF605
15 6,97,78,062 chr15:69778062:T:C rs75516437 C 0.00621 0.64954 Imputed 6460 3.937 2.498 6.207 3.60E−09 9465 1.559 1.033 2.353 0.03452 Intergenic PCAT29;LINC00593
15 9,23,50,924 chr15:92350924:T:C T 0.02086 0.30905 Imputed 6460 3.36 2.177 5.186 4.45E−08 9465 1.432 0.9822 2.089 0.06196 Intergenic SLCO3A1;ST8SIA2
20 5,50,80,179 chr20:55080179:G:A rs144851111 A 0.00386 0.30246 Imputed 6460 8.283 4.084 16.8 4.62E−09 9465 2.649 1.352 5.191 0.00452 Intergenic DOK5;LINC01441
21 2,81,70,508 chr21:28170508:A:C rs2831598 C 0.00548 0.85895 Imputed 6460 3.812 2.421 6.001 7.48E−09 9465 1.972 1.34 2.903 0.000575 ncRNA_intronic LINC01695
21 2,81,64,783 chr21:28164783:C:T rs139600098 T 0.00601 0.86242 Imputed 6460 3.641 2.37 5.594 3.69E−09 9465 1.825 1.265 2.631 0.001282 ncRNA_intronic LINC01695
21 2,84,29,678 chr21:28429678:G:A rs145901638 A 0.0053 0.8642 Imputed 6460 4.115 2.594 6.527 1.86E−09 9465 1.829 1.229 2.722 0.002898 Intergenic LINC01695;LINC00161
21 2,81,65,396 chr21:28165396:C:A rs140035545 A 0.00619 0.86512 Imputed 6460 3.714 2.449 5.631 6.48E−10 9465 1.887 1.322 2.694 0.000473 ncRNA_intronic LINC01695
21 2,81,65,671 chr21:28165671:C:G rs2831578 G 0.0066 0.86537 Imputed 6460 3.54 2.359 5.312 1.04E−09 9465 1.789 1.265 2.531 0.001014 ncRNA_intronic LINC01695
21 2,81,65,241 chr21:28165241:T:A rs138282731 A 0.00622 0.86591 Imputed 6460 3.714 2.449 5.631 6.48E−10 9465 1.887 1.322 2.694 0.000473 ncRNA_intronic LINC01695
21 2,81,67,027 chr21:28167027:G:A rs2831584 A 0.006 0.87016 Imputed 6460 3.653 2.385 5.596 2.61E−09 9465 1.878 1.306 2.699 0.000666 ncRNA_intronic LINC01695
21 2,81,68,119 chr21:28168119:C:A rs2831588 A 0.00661 0.8744 Imputed 6460 3.311 2.188 5.01 1.47E−08 9465 1.746 1.235 2.468 0.001598 ncRNA_intronic LINC01695
21 2,81,70,454 chr21:28170454:C:T rs2831597 T 0.00518 0.88171 Imputed 6460 4.405 2.798 6.935 1.52E−10 9465 2.218 1.501 3.277 6.37E−05 ncRNA_intronic LINC01695
21 2,81,71,717 chr21:28171717:A:G rs57177980 G 0.00563 0.88918 Imputed 6460 3.752 2.382 5.908 1.15E−08 9465 1.922 1.314 2.809 0.000749 ncRNA_intronic LINC01695
21 2,84,06,331 chr21:28406331:T:C rs150168760 C 0.0048 0.89787 Imputed 6460 4.157 2.613 6.614 1.80E−09 9465 1.735 1.151 2.614 0.00844 Intergenic LINC01695;LINC00161
21 2,81,87,913 chr21:28187913:T:C rs10482989 C 0.00602 0.93268 Imputed 6460 3.599 2.324 5.572 9.50E−09 9465 2.024 1.405 2.916 0.000155 ncRNA_intronic LINC01695
21 2,81,89,835 chr21:28189835:CT:C C 0.00604 0.93481 Imputed 6460 3.599 2.324 5.572 9.50E−09 9465 2.024 1.405 2.916 0.000155 ncRNA_intronic LINC01695
21 2,81,99,184 chr21:28199184:A:T rs28883424 T 0.00564 0.9351 Imputed 6460 3.761 2.405 5.881 6.35E−09 9465 2.012 1.384 2.925 0.000252 ncRNA_intronic LINC01695
21 2,81,90,781 chr21:28190781:TAC:T T 0.00502 0.93737 Imputed 6460 4 2.524 6.338 3.58E−09 9465 1.999 1.354 2.951 0.000494 ncRNA_intronic LINC01695
21 2,81,99,308 chr21:28199308:A:G rs8130449 G 0.00605 0.9382 Imputed 6460 3.599 2.324 5.572 9.50E−09 9465 2.024 1.405 2.916 0.000155 ncRNA_intronic LINC01695
21 2,81,97,976 chr21:28197976:C:T rs59067393 T 0.00502 0.93881 Imputed 6460 4 2.524 6.338 3.58E−09 9465 1.999 1.354 2.951 0.000494 ncRNA_intronic LINC01695
21 2,82,03,693 chr21:28203693:G:A rs78202304 A 0.00578 0.95837 Imputed 6460 3.82 2.454 5.948 2.97E−09 9465 2.141 1.478 3.101 5.69E−05 ncRNA_intronic LINC01695
21 2,82,25,654 chr21:28225654:C:T rs73897628 T 0.00536 0.96681 Imputed 6460 3.635 2.309 5.721 2.45E−08 9465 1.739 1.185 2.551 0.004699 ncRNA_intronic LINC01695
21 2,83,52,351 chr21:28352351:G:T rs7278151 T 0.00874 0.96719 Imputed 6460 2.909 2.029 4.172 6.37E−09 9465 1.379 1.015 1.873 0.04014 Intergenic LINC01695;LINC00161
21 2,82,06,978 chr21:28206978:G:A rs144947925 A 0.00515 0.97068 Imputed 6460 3.938 2.507 6.185 2.66E−09 9465 1.939 1.323 2.842 0.000692 ncRNA_intronic LINC01695
21 2,82,06,642 chr21:28206642:G:C rs16997642 C 0.00558 0.97287 Imputed 6460 3.866 2.484 6.019 2.12E−09 9465 2.031 1.4 2.946 0.000189 ncRNA_intronic LINC01695
21 2,82,22,390 chr21:28222390:T:C rs2831662 C 0.00587 0.97928 Imputed 6460 3.606 2.318 5.611 1.30E−08 9465 1.725 1.193 2.496 0.003782 ncRNA_intronic LINC01695
21 2,83,36,083 chr21:28336083:T:C rs73897689 C 0.00493 0.98436 Imputed 6460 3.822 2.406 6.072 1.38E−08 9465 1.792 1.208 2.658 0.003747 Intergenic LINC01695;LINC00161
21 2,83,37,534 chr21:28337534:T:C rs73897690 C 0.00489 0.98684 Imputed 6460 3.822 2.406 6.072 1.38E−08 9465 1.807 1.217 2.683 0.003374 Intergenic LINC01695;LINC00161
21 3,45,50,989 chr21:34550989:C:T rs140276394 T 0.0032 0.50721 Imputed 6460 6.028 3.245 11.2 1.31E−08 9465 1.888 1.025 3.478 0.04147 Intronic RCAN1