Studies reporting genetic polymorphisms in immunoregulatory genes in patients with ITP
| Publication . | Genetic polymorphisms . | Cohort . | ||
|---|---|---|---|---|
| Ethnicity . | ITP type . | Patient numbers (patients with ITP; controls) . | ||
| Cytokine and cytokine receptor gene polymorphisms | ||||
| Satoh et al20 | •TNFA (rs1800629 and rs1800629)•TNFB (rs909253)•IL-1B (rs16944 and rs1143634) | Asian (Japanese) | Adult-onset, primary, and chronic | 84; 56 |
| Chen et al44 | •IFNG (rs2430561)•IL-4 (IVS3) | Asian (Chinese) | Adult- and childhood-onset, acute, persistent, and chronic | 196; 128 |
| Saitoh et al57 | •IL-17F (rs763780) | Asian (Japanese) | Adult-onset and chronic | 102; 188 |
| Pehlivan et al43 | •TNFA (rs1800629)•TGFB1 (rs1982073 and rs1800471)•IL-10 (rs1800896, rs1800871, and rs1800872)•IL-6 (rs1800796)•IL-1RA (VNTR)•IFNG (rs2430561) | Caucasian (Turkish) | Adult-onset and chronic | 71; 71 |
| Sarpatvari et al115 | •IL-10 (rs1800871 and rs1800872)•TNFA (rs1800629)•TGFB1 (rs4803457)•IL-1A (rs1800587)•IL-4RA (rs1801275) | Caucasian | Adult-onset and primary | 206; 618 |
| Zhan et al116 | •IL-23R (rs10889677, rs1884444, rs7517847, and rs11209032) | Asian (Chinese) | Adult-onset, primary, and acute | 75; 81 |
| Li et al117 | •IL-18 (rs187238 and rs1946518) | Asian (Chinese) | Adult- and childhood-onset, primary, and chronic | 181; 163 |
| Li et al118 | •IL-17F (rs763780) | Asian (Chinese) | Adult- and childhood-onset, primary, and chronic | 165; 149 |
| El Ghannam et al119 | •IL-10 (rs1800896, rs1800871, and rs1800872) | African (Egyptian) | Adult-onset and chronic | 62; 73 |
| Pavkovic et al87 | •IL-1B (rs16944)•TNFB (rs909253)•TNFA (rs1800629) | Caucasian (Macedonian) | Adult-onset and primary | 125; 120 |
| Liu et al23 | •IL-17A (rs2275913)•IL-17F (rs763780) | Asian (Chinese) | Adult-onset, primary, and chronic | 146; 137 |
| Yadav et al120 | •TNFA (rs1800629)•TNFB (rs909253) | Asian (Indian) | Adult-onset and primary | 80; 100 |
| Takahashi et al45 | •IFNG (rs2430561)•IFNGR (rs1327474)•IL-4 (rs2243250)•IL-4RA (rs1801275) | Asian (Japanese) | Adult-onset and chronic | 126; 202 |
| Yadav et al121 | •IL-1B (rs1143627 and rs16944)•IL-1RA (VNTR) | Asian (Indian) | Adult-onset and primary | 118; 100 |
| Li et al58 | •IL-2 (rs6822844) | Asian (Chinese) | Adult-onset and primary | 312; 154 |
| Yu et al98 | •IL-18 (rs1946518)•IL-1B (rs16944) | Asian (Chinese) | Adult- and childhood-onset and primary | 403; 336 |
| Tolba et al59 | •IL-17F (rs763780) | African (Egyptian) | Adult- and childhood-onset and primary | 105; 112 |
| Nomura et al122 | •TNFA (rs1800629)•TGFB1 (rs1982073)•IL-10 (rs1800896, rs1800871, and rs1800872)•IFNG (rs2430561) | Asian (Japanese) | Adult-onset | 153; 70 |
| T-cell regulatory gene polymorphisms | ||||
| Du et al99 | •TIM3 (rs10053538, rs10515746, and rs1036199) | Asian (Chinese) | Adult- and childhood-onset, primary, acute, and chronic | 187; 123 |
| Li et al58 | •DNAM1 (rs763361) | Asian (Chinese) | Adult-onset and primary | 312; 154 |
| Kasamatsu et al28 | •PDCD1 (rs36084323 and rs11568821),•CTLA4 (rs733618, rs11571316, rs231775, and rs3087243) | Asian (Japanese) | Adult-onset and chronic | 119; 223 |
| Abdelghafar et al79 | •CD40 (rs1883832 and rs4810485) | African (Egyptian) | Adult-onset and primary | 101; 97 |
| Wang et al70 | •TIM3 (rs10515746)•CD28 (rs1980422)•TNFSF4 (rs2205960)•CTLA4 (rs231779)•PDCD1 (rs36084323)•ICOS (rs6726035)•DNAM1 (rs763361)•LAG3 (rs870849) | Asian (Chinese) | Adult-onset and primary | 307; 295 |
| Chen et al68 | •CTLA4 (rs11571315, rs733618, rs4553808, rs11571316, rs62182595, rs16840252, rs5742909, rs231775, and rs3087243)•CD28 (rs1879877, rs3181096, rs3181097, rs3181098, rs56228674, rs3116496, and rs3116496) | Asian (Taiwanese) | Adult-onset, primary, and secondary | 32; 30 |
| Ellithy et al80 | •CD40 (rs1883832 and rs4810485) | African (Egyptian) | Adult-onset and chronic | 50; 50 |
| FcγR gene polymorphisms | ||||
| Fujimoto et al25 | •FCGR2A (rs1801274)•FCGR3A (rs396991) | Asian (Japanese) | Adult-onset, primary, and chronic | 104; 59 |
| Breunis et al26 | •FCGR2A (rs1801274)•FCGR2B (rs1050501)•FCGR3A (rs396991)•FCGR3B HNA1a/HNA1b/HNA1c•FCGR2C (rs759550223) | Caucasian | Adult- and childhood-onset | 116; 100 |
| Xu et al123 | •FCGR2B (rs1050501) | Asian (Chinese) | Adult- and childhood-onset, acute, and chronic | 280; 243 |
| Xu et al124 | •FCGR2A (rs1801274)•FCGR3A (rs396991) | Caucasian, Asian, and African | Adult- and childhood-onset | 741;1092 (meta-analysis) |
| Audia et al88 | •FCGR2A (rs1801274)•FCGR2B (rs1050501)•FCGR3A (rs396991)•FCGR3B HNA1a/HNA1b/HNA1c•FCGR2C (rs759550223) | Caucasian | Adult-onset and primary | 216; 88 |
| Pavkovic et al87 | •FCGR2A (rs1801274)•FCGR3A (rs396991) | Caucasian (Macedonian) | Adult-onset, primary, and chronic | 125; 120 |
| Li et al89 | •FCGR2A (rs1801274)•FCGR2B (rs1050501)•FCGR3A (rs396991) | Caucasian and Asian | Adult- and childhood-onset | 1200; 1723 (meta-analysis) |
| Polymorphisms in miscellaneous genes | ||||
| Pehlivan et al43 | •GP1A (rs1126643)•GP2 (VNTR)•GP3A (rs4918)•MBL2 (rs1800450) | Caucasian (Turkish) | Adult-onset and chronic | 71; 71 |
| Basciano et al125 | •TUBB1 (rs6070697) | — | Adult-onset and chronic | 191; 361 |
| Ge et al94 | •PTPN22 (rs2488457) | Asian (Chinese) | Adult- and childhood-onset, primary, acute, and chronic | 191; 216 |
| Li et al58 | •CD24 (rs52812045)•FCRL3 (rs945635, rs7528684, rs3761959, and rs11264799)•IRF5 (rs2280714, rs2004640, and rs10954213)•ITGAM (rs1143679)•NLRP3 (rs4353135, rs35829419, and rs10754558)•CARD8 (rs2043211)•PTPN22 (rs33996649 and rs1310182)•SH2B3 (rs3184504)•STAT4 (rs10181656 and rs7574869)•TNFAIP3 (rs10499194, rs2230926, rs5029939, and rs6920220)•TRAF1 (rs10818488) | Asian (Chinese) | Adult-onset and primary | 312; 154 |
| Yu et al98 | •NLRP3 (rs35829419)•CARD8 (rs2043211)•NFKB1 (rs28362491) | Asian (Chinese) | Adult- and childhood-onset and primary | 403; 336 |
| Hassan et al96 | •TLR9 (rs352140) | African (Egyptian) | Adult-onset and primary | 40; 40 |
| Zhang et al97 | •FOXP3 (rs5902434, rs3761548, and rs2232365) | Asian (Chinese) | Adult- and childhood-onset, primary, and chronic | 329; 279 |
| Tian et al126 | •PTPN22 (rs2476601 and rs2488457) | Caucasian, Asian, and African | Adult- and childhood-onset, and primary | 932; 2112 (meta-analysis) |
| GWASs | ||||
| Xu et al101 | •GBE1/LINC02027 (rs117503120)•TIMP3/SYN3 (rs5998634)•TENM4 (rs4483616)•OSBPL6 (rs16866133) | Asian (Chinese) | Adult-onset and primary | 200; 200 |
| Publication . | Genetic polymorphisms . | Cohort . | ||
|---|---|---|---|---|
| Ethnicity . | ITP type . | Patient numbers (patients with ITP; controls) . | ||
| Cytokine and cytokine receptor gene polymorphisms | ||||
| Satoh et al20 | •TNFA (rs1800629 and rs1800629)•TNFB (rs909253)•IL-1B (rs16944 and rs1143634) | Asian (Japanese) | Adult-onset, primary, and chronic | 84; 56 |
| Chen et al44 | •IFNG (rs2430561)•IL-4 (IVS3) | Asian (Chinese) | Adult- and childhood-onset, acute, persistent, and chronic | 196; 128 |
| Saitoh et al57 | •IL-17F (rs763780) | Asian (Japanese) | Adult-onset and chronic | 102; 188 |
| Pehlivan et al43 | •TNFA (rs1800629)•TGFB1 (rs1982073 and rs1800471)•IL-10 (rs1800896, rs1800871, and rs1800872)•IL-6 (rs1800796)•IL-1RA (VNTR)•IFNG (rs2430561) | Caucasian (Turkish) | Adult-onset and chronic | 71; 71 |
| Sarpatvari et al115 | •IL-10 (rs1800871 and rs1800872)•TNFA (rs1800629)•TGFB1 (rs4803457)•IL-1A (rs1800587)•IL-4RA (rs1801275) | Caucasian | Adult-onset and primary | 206; 618 |
| Zhan et al116 | •IL-23R (rs10889677, rs1884444, rs7517847, and rs11209032) | Asian (Chinese) | Adult-onset, primary, and acute | 75; 81 |
| Li et al117 | •IL-18 (rs187238 and rs1946518) | Asian (Chinese) | Adult- and childhood-onset, primary, and chronic | 181; 163 |
| Li et al118 | •IL-17F (rs763780) | Asian (Chinese) | Adult- and childhood-onset, primary, and chronic | 165; 149 |
| El Ghannam et al119 | •IL-10 (rs1800896, rs1800871, and rs1800872) | African (Egyptian) | Adult-onset and chronic | 62; 73 |
| Pavkovic et al87 | •IL-1B (rs16944)•TNFB (rs909253)•TNFA (rs1800629) | Caucasian (Macedonian) | Adult-onset and primary | 125; 120 |
| Liu et al23 | •IL-17A (rs2275913)•IL-17F (rs763780) | Asian (Chinese) | Adult-onset, primary, and chronic | 146; 137 |
| Yadav et al120 | •TNFA (rs1800629)•TNFB (rs909253) | Asian (Indian) | Adult-onset and primary | 80; 100 |
| Takahashi et al45 | •IFNG (rs2430561)•IFNGR (rs1327474)•IL-4 (rs2243250)•IL-4RA (rs1801275) | Asian (Japanese) | Adult-onset and chronic | 126; 202 |
| Yadav et al121 | •IL-1B (rs1143627 and rs16944)•IL-1RA (VNTR) | Asian (Indian) | Adult-onset and primary | 118; 100 |
| Li et al58 | •IL-2 (rs6822844) | Asian (Chinese) | Adult-onset and primary | 312; 154 |
| Yu et al98 | •IL-18 (rs1946518)•IL-1B (rs16944) | Asian (Chinese) | Adult- and childhood-onset and primary | 403; 336 |
| Tolba et al59 | •IL-17F (rs763780) | African (Egyptian) | Adult- and childhood-onset and primary | 105; 112 |
| Nomura et al122 | •TNFA (rs1800629)•TGFB1 (rs1982073)•IL-10 (rs1800896, rs1800871, and rs1800872)•IFNG (rs2430561) | Asian (Japanese) | Adult-onset | 153; 70 |
| T-cell regulatory gene polymorphisms | ||||
| Du et al99 | •TIM3 (rs10053538, rs10515746, and rs1036199) | Asian (Chinese) | Adult- and childhood-onset, primary, acute, and chronic | 187; 123 |
| Li et al58 | •DNAM1 (rs763361) | Asian (Chinese) | Adult-onset and primary | 312; 154 |
| Kasamatsu et al28 | •PDCD1 (rs36084323 and rs11568821),•CTLA4 (rs733618, rs11571316, rs231775, and rs3087243) | Asian (Japanese) | Adult-onset and chronic | 119; 223 |
| Abdelghafar et al79 | •CD40 (rs1883832 and rs4810485) | African (Egyptian) | Adult-onset and primary | 101; 97 |
| Wang et al70 | •TIM3 (rs10515746)•CD28 (rs1980422)•TNFSF4 (rs2205960)•CTLA4 (rs231779)•PDCD1 (rs36084323)•ICOS (rs6726035)•DNAM1 (rs763361)•LAG3 (rs870849) | Asian (Chinese) | Adult-onset and primary | 307; 295 |
| Chen et al68 | •CTLA4 (rs11571315, rs733618, rs4553808, rs11571316, rs62182595, rs16840252, rs5742909, rs231775, and rs3087243)•CD28 (rs1879877, rs3181096, rs3181097, rs3181098, rs56228674, rs3116496, and rs3116496) | Asian (Taiwanese) | Adult-onset, primary, and secondary | 32; 30 |
| Ellithy et al80 | •CD40 (rs1883832 and rs4810485) | African (Egyptian) | Adult-onset and chronic | 50; 50 |
| FcγR gene polymorphisms | ||||
| Fujimoto et al25 | •FCGR2A (rs1801274)•FCGR3A (rs396991) | Asian (Japanese) | Adult-onset, primary, and chronic | 104; 59 |
| Breunis et al26 | •FCGR2A (rs1801274)•FCGR2B (rs1050501)•FCGR3A (rs396991)•FCGR3B HNA1a/HNA1b/HNA1c•FCGR2C (rs759550223) | Caucasian | Adult- and childhood-onset | 116; 100 |
| Xu et al123 | •FCGR2B (rs1050501) | Asian (Chinese) | Adult- and childhood-onset, acute, and chronic | 280; 243 |
| Xu et al124 | •FCGR2A (rs1801274)•FCGR3A (rs396991) | Caucasian, Asian, and African | Adult- and childhood-onset | 741;1092 (meta-analysis) |
| Audia et al88 | •FCGR2A (rs1801274)•FCGR2B (rs1050501)•FCGR3A (rs396991)•FCGR3B HNA1a/HNA1b/HNA1c•FCGR2C (rs759550223) | Caucasian | Adult-onset and primary | 216; 88 |
| Pavkovic et al87 | •FCGR2A (rs1801274)•FCGR3A (rs396991) | Caucasian (Macedonian) | Adult-onset, primary, and chronic | 125; 120 |
| Li et al89 | •FCGR2A (rs1801274)•FCGR2B (rs1050501)•FCGR3A (rs396991) | Caucasian and Asian | Adult- and childhood-onset | 1200; 1723 (meta-analysis) |
| Polymorphisms in miscellaneous genes | ||||
| Pehlivan et al43 | •GP1A (rs1126643)•GP2 (VNTR)•GP3A (rs4918)•MBL2 (rs1800450) | Caucasian (Turkish) | Adult-onset and chronic | 71; 71 |
| Basciano et al125 | •TUBB1 (rs6070697) | — | Adult-onset and chronic | 191; 361 |
| Ge et al94 | •PTPN22 (rs2488457) | Asian (Chinese) | Adult- and childhood-onset, primary, acute, and chronic | 191; 216 |
| Li et al58 | •CD24 (rs52812045)•FCRL3 (rs945635, rs7528684, rs3761959, and rs11264799)•IRF5 (rs2280714, rs2004640, and rs10954213)•ITGAM (rs1143679)•NLRP3 (rs4353135, rs35829419, and rs10754558)•CARD8 (rs2043211)•PTPN22 (rs33996649 and rs1310182)•SH2B3 (rs3184504)•STAT4 (rs10181656 and rs7574869)•TNFAIP3 (rs10499194, rs2230926, rs5029939, and rs6920220)•TRAF1 (rs10818488) | Asian (Chinese) | Adult-onset and primary | 312; 154 |
| Yu et al98 | •NLRP3 (rs35829419)•CARD8 (rs2043211)•NFKB1 (rs28362491) | Asian (Chinese) | Adult- and childhood-onset and primary | 403; 336 |
| Hassan et al96 | •TLR9 (rs352140) | African (Egyptian) | Adult-onset and primary | 40; 40 |
| Zhang et al97 | •FOXP3 (rs5902434, rs3761548, and rs2232365) | Asian (Chinese) | Adult- and childhood-onset, primary, and chronic | 329; 279 |
| Tian et al126 | •PTPN22 (rs2476601 and rs2488457) | Caucasian, Asian, and African | Adult- and childhood-onset, and primary | 932; 2112 (meta-analysis) |
| GWASs | ||||
| Xu et al101 | •GBE1/LINC02027 (rs117503120)•TIMP3/SYN3 (rs5998634)•TENM4 (rs4483616)•OSBPL6 (rs16866133) | Asian (Chinese) | Adult-onset and primary | 200; 200 |
Genetic polymorphisms significantly associated with ITP susceptibility and/or severity are written in bold.
CARD8; caspase recruitment domain family member 8; FCGR2A, Fcγ receptor IIa; FCGR2B, Fcγ receptor IIb; FCGR2C, Fcγ receptor IIc; FCGR3A, Fcγ receptor IIIa; FCGR3B, Fcγ receptor IIIb; FCRL3, Fcγ receptor like 3; FOXP3, Forkhead box P3; GBE1, 1,4-α-glucan branching enzyme 1; GP1A, glycoprotein Ia; GP2, glycoprotein II; GP3A, glycoprotein IIIa; ICOS, inducible T-cell costimulator; IFNGR, interferon-γ receptor 1; IL-1A, interleukin-1α; IL-1RA, IL-1 receptor antagonist; IL-1B, IL-1β; IL-4RA, IL-4 receptor subunit α; IRF5, interferon regulatory factor 5; ITGAM, integrin subunit α M; LAG3, lymphocyte-activation gene 3; LINC02027, long intergenic nonprotein coding RNA 2027; MBL2, mannose binding lectin 2; NFκB1, nuclear factor κB subunit 1; NLRP3, NLR family pyrin domain containing 3; OSBPL6, oxysterol binding protein like 6; PDCD1, programmed cell death protein 1; PTPN22, protein tyrosine phosphatase nonreceptor type 22; SH2B3, SH2B adapter protein 1; STAT4, signal transducer and activator of transcription 4; SYN3, synapsin III; TENM4, teneurin transmembrane protein 4; TGFB1, transforming growth factor β1; TIM3 T-cell immunoglobulin and mucin domain containing 3; TIMP3, tissue inhibitor of metalloproteinase 3; TNFA, tumor necrosis factor α; TNFAIP3, TNF-α–induced protein 3; TLR9, Toll-like receptor 9; TNFB, tumor necrosis factor β; TNFRSF5, TNF receptor superfamily member 5; TNFSF4, TNF superfamily member 4; TRAF1, TNF receptor–associated factor 1; TUBB1, tubulin β1 class VI.