Table 5.
AML- or T2D- specific SNPs that act as eQTLs on the 86 common AML/T2D susceptibility genes in a tissue-specific manner, as analyzed via the GTex portal [21] (May 2021).
| AML-Specific | T2D-Specific | |||||
|---|---|---|---|---|---|---|
| SNP ID | Associated Gene | Affected Gene (s) | SNP ID | Associated Gene | Affected Gene (s) | |
| Adipose, Muscle, Pancreas, Whole Blood | ||||||
| 1 | rs1168446 | AC093675.1, MERTK | MERTK (ad, pa, bl), TMEM87B (mu, bl) | |||
| 2 | rs4848980 | TMEM87B | MERTK (pa, mu), TMEM87B (bl, ad) | |||
| 3 | rs5752972 | ASCC2, MTMR3 | MTMR3 (ad, bl, mu, pa) | |||
| 4 | rs11684321 | MERTK | MERTK (pa, mu, ad, bl), TMEM87B (mu, ad, bl) | |||
| 5 | rs9625870 | ASCC2, MTMR3 | MTMR3 (ad, bl, pa) | |||
| 6 | rs4848979 | TMEM87B | MERTK (pa, bl, mu, ad), TMEM87B (mu, pa, ad, bl) | |||
| 7 | rs1168446 | AC093675.1, MERTK | MERTK (pa, mu, ad), TMEM78B (ad, pa, mu, bl) | |||
| Adipose, Muscle, Pancreas | ||||||
| 1 | rs2769444 | USP44 | USP44 (pa, mu, ad) | rs4382480 | MFHAS1 | FAM86B3P (ad, pa, mu), PRAG1 (ad), FAM85B (ad), |
| 2 | rs13274039 | PRAG1, FAM86B3P | FAM86B3P (ad), FAM85B (ad) | |||
| 3 | rs301003 | USP44 | USP44 (pa, mu, ad) | |||
| 4 | rs301026 | METAP2 | USP44 (mu, pa, ad) | |||
| 5 | rs301024 | USP44 | USP44 (pa, ad) | |||
| 6 | rs301009 | METAP2 | USP44 (pa, mu, ad) | |||
| Adipose, Muscle, Whole blood | ||||||
| 1 | rs8139217 | MTMR3, AC003681.1 | MTMR3 (bl, mu) | rs7274168 | CHMP4B | CHMP4B (bl, mu, ad) |
| 2 | rs737911 | MTMR3, AC003681.1 | MTMR3 (ad, bl, mu) | |||
| 3 | rs7285751 | MTMR3, AC003681.1 | MTMR3 (bl, mu, ad) | |||
| 4 | rs3788421 | MTMR3, AC003681.1 | MTMR3 (bl, mu, ad) | |||
| 5 | rs41158 | HORMAD2-AS1, MTMR3, AC003681.1 | MTMR3 (ad, bl, mu) | |||
| 6 | rs7284538 | MTMR3, AC003681.1 | MTMR3 (bl, ad, mu) | |||
| 7 | rs41170 | HORMAD2-AS1, MTMR3, AC003681.1 | MTMR3 (ad, bl, mu) | |||
| Adipose, Pancreas, Whole blood | ||||||
| 1 | rs4261758 | SPTBN1 | EML6 (pa, ad, bl) | rs34589210 | AC093675.1, MERTK | MERTK (pa), TMEM87B (ad, bl) |
| 2 | rs4567941 | AC093675.1 | MERTK (pa, bl), TMEM87B (ad, pa, bl) | |||
| 3 | rs36605 | MTMR3 | MTMR3 (ad, bl, pa) | |||
| 4 | rs17039558 | TDRP | EML6 (pa, ad, bl) | |||
| 5 | rs737904 | MTMR3 | MTMR3 (ad, bl, pa) | |||
| 6 | rs3811640 | MERTK | MERTK (pa), TMEM87B (ad, bl) | |||
| 7 | rs6734445 | SPTBN1 | EML6 (pa, ad, bl) | |||
| 8 | rs36600 | MTMR3 | MTMR3(ad, bl, pa) | |||
| 9 | rs11904679 | AC092839.1, SPTBN1 | EML6 (pa, ad, bl) | |||
| 10 | rs6713344 | TMEM87B | MERTK (pa, bl, ad), TMEM87B (ad, pa, bl) | |||
| Muscle, Pancreas, Whole blood | ||||||
| 1 | rs13237518 | TMEM106B | TMEM106B (bl, pa, mu) | |||
| Adipose, Muscle | ||||||
| 1 | rs11563634 | ZNF800 | ZNF800 (mu, ad) | rs11723275 | SHROOM3 | SHROOM3 (mu, ad) |
| 2 | rs10937739 | PPP2R2C | PPP2R2C (mu, ad) | |||
| 3 | rs2285338 | ZNF800 | ZNF800 (ad, mu) | |||
| 4 | rs11563346 | ZNF800 | ZNF800 (mu, ad) | |||
| 5 | rs4689465 | PPP2R2C | PPP2R2C (ad, mu) | |||
| 6 | rs4689469 | PPP2R2C | PPP2R2C (mu, ad) | |||
| Adipose, Pancreas | ||||||
| 1 | rs11887259 | MERTK | TMEM87B (ad), MERTK (pa, ad) | rs7841082 | PRAG1, FAM86B3P | FAM86B3P (ad, pa), FAM85B (ad), PPP1R3B (pa) |
| 2 | rs6729826 | SPTBN1 | EML6 (ad) | |||
| 3 | rs4671956 | AC092839.2, SPTBN1 | EML6 (ad, pa) | |||
| 4 | rs4374383 | MERTK | TMEM87B (ad), MERTK (pa, ad) | |||
| 5 | rs3811638 | MERTK | TMEM87B (ad), MERTK (pa, ad) | |||
| 6 | rs2945230 | PRAG1, FAM86B3P | FAM86B3P (ad, pa), FAM85B (ad) | |||
| 7 | rs13016942 | SPTBN1 | EML6 (ad, pa) | |||
| 8 | rs12104998 | AC092839.1, SPTBN1 | EML6 (ad, pa) | |||
| 9 | rs12105792 | SPTBN1 | EML6 (ad, pa) | |||
| 10 | rs1367295 | AC092839.1, SPTBN1 | EML6 (ad, pa) | |||
| 11 | rs11683409 | MERTK | MERTK (ad, pa), TMEM87B (ad) | |||
| 12 | rs17344072 | SPTBN1 | EML6 (ad, pa) | |||
| Adipose, Liver | ||||||
| 1 | rs4659444 | DPPA2P2, HMGN2 | RPS6KA1 (li) | |||
| 2 | rs1359563 | MLIP-AS1, MLIP | MLIP (ad, li) | |||
| 3 | rs12094989 | DPPA2P2, RPS6KA1 | RPS6KA1 (li, ad) | |||
| 4 | rs9637973 | MLIP-AS1, MLIP | MLIP (li, ad) | |||
| 5 | rs1325831 | MLIP-AS1, MLIP | MLIP (li, ad) | |||
| Adipose, Whole blood | ||||||
| 1 | rs5997546 | ASCC2, MTMR3 | MTMR3 (ad) | |||
| 2 | rs5763688 | MTMR3, AC003681.1 | MTMR3 (ad, bl) | |||
| 3 | rs41159 | HORMAD2-AS1, MTMR3, AC003681.1 | MTMR3 (ad, bl) | |||
| 4 | rs634035 | POLR1D | POLR1D (ad) | |||
| 5 | rs5763559 | ASCC2, MTMR3 | MTMR3 (ad, bl) | |||
| 6 | rs737909 | MTMR3, AC003681.1 | MTMR3 (ad, bl) | |||
| 7 | rs2051764 | MTMR3 | MTMR3 (bl) | |||
| 8 | rs667374 | POLR1D | POLR1D (bl, ad) | |||
| Muscle, Whole blood | ||||||
| 1 | rs382752 | PCM1, ASAH1 | ASAH1 (bl, mu) | |||
| Pancreas, Whole blood | ||||||
| 1 | rs74677818 | TMEM87B | TMEM87B (bl), MERTK (pa) | |||
| Adipose | ||||||
| 1 | rs17821569 | POLR1D | POLR1D (ad) | rs11201992 | GRID1 | GRID1 (ad) |
| 2 | rs12905649 | PCSK6 | PCSK6 (ad) | rs56281442 | SHROOM3 | SHROOM3 (ad) |
| 3 | rs10883130 | HPSE2 | HPSE2 (ad) | rs11201999 | GRID1 | GRID1 (ad) |
| 4 | rs12876263 | POLR1D | POLR1D (ad) | |||
| 5 | rs898892 | HPSE2 | HPSE2 (ad) | |||
| 6 | rs7907389 | HPSE2 | HPSE2 (ad) | |||
| 7 | rs7337722 | POLR1D | POLR1D (ad) | |||
| 8 | rs737903 | MTMR3 | MTMR3 (ad) | |||
| 9 | rs10748739 | HPSE2 | HPSE2 (ad) | |||
| 10 | rs2980420 | PRAG1, FAM86B3P | FAM86B3P (ad) | |||
| 11 | rs650527 | HPSE2 | HPSE2 (ad) | |||
| 12 | rs7750294 | MLIP-AS1, MLIP | MLIP (ad) | |||
| 13 | rs10883134 | HPSE2 | HPSE2 (ad) | |||
| 14 | rs2018085 | HPSE2 | HPSE2 (ad) | |||
| 15 | rs41164 | HORMAD2-AS1, MTMR3, AC003681.1 | MTMR3 (ad) | |||
| 16 | rs621644 | HPSE2 | HPSE2 (ad) | |||
| 17 | rs542610 | POLR1D | POLR1D (ad) | |||
| 18 | rs489611 | HPSE2 | HPSE2 (ad) | |||
| Muscle | ||||||
| 1 | rs4505896 | PPP2R2C | PPP2R2C (mu) | rs11150745 | RPTOR | RPTOR (mu) |
| Pancreas | ||||||
| 1 | rs9370050 | PKHD1 | PKHD1 (pa) | |||
| Liver | ||||||
| 1 | rs12191362 | MLIP-AS1, MLIP | MLIP (li) | |||
| 2 | rs16884633 | MLIP-AS1, MLIP | MLIP (li) | |||
| Whole blood | ||||||
| 1 | rs382964 | PAM | PAM (bl), PPIP5K2 (bl) | rs115505614 | GIN1 | PAM (bl), PPIP5K2 (bl) |
| 2 | rs10179948 | MERTK | TMEM87B (bl) | rs35658696 | PAM | PAM (bl), PPIP5K2 (bl) |
| 3 | rs382946 | AC099487.2, PAM | PAM (bl), PPIP5K2 (bl) | rs75432112 | AC011362.1 | PAM (bl), PPIP5K2 (bl) |
| 4 | rs258132 | PAM | PAM (bl), PPIP5K2 (bl) | rs9319382 | AL136439.1, POLR1D | POLR1D (bl) |
| 5 | rs401114 | PAM | PAM (bl, ad), PPIP5K2 (bl) | rs610930 | AUTS2 | AUTS2 (bl) |
| 6 | rs442443 | AC099487.2, PAM | PAM (bl), PPIP5K2 (bl) | rs7729395 | PAM | PAM (bl), PPIP5K2 (bl) |
| 7 | rs462957 | PAM | PAM (bl), PPIP5K2 (bl) | |||
| 8 | rs6088343 | CHMP4B, TPM3P2 | CHMP4B (bl) | |||
| 9 | rs458256 | PAM | PAM (bl), PPIP5K2 (bl) | |||
| 10 | rs451819 | AC099487.2, PAM | PAM (bl) | |||
| 11 | rs17098576 | GRK5 | GRK5 (bl) | |||
| 12 | rs17692377 | PCM1, ASAH1 | ASAH1 (bl) | |||
| 13 | rs10211152 | MERTK | TMEM87B (bl), MERTK (bl) | |||
| 14 | rs12050009 | POLR1D | POLR1D (bl) | |||
| 15 | rs11782529 | PCM1, ASAH1 | ASAH1 (bl) | |||
| 16 | rs9551373 | POLR1D | POLR1D (bl) | |||
| 17 | rs10095669 | PRAG1, FAM86B3P | FAM86B3P (bl) | |||
| 18 | rs467186 | PAM | PAM (bl) | |||
| 19 | rs6142044 | PIGPP3, TPM3P2 | CHMP4B (bl) | |||
| 20 | rs2657459 | AC099487.2, PAM | PAM (bl), PPIP5K2 (bl) | |||
| 21 | rs438126 | AC099487.2, PAM | PAM (bl), PPIP5K2 (bl) | |||
| 22 | rs647343 | AC099487.2, PAM | PAM (bl), PPIP5K2 (bl) | |||
ad: Adipose, bl: whole blood, li: liver, mu: muscle, pa: pancreas.