Supplemental Table 2. All Genetic Variants Investigated in Women with Idiopathic Recurrent

Supplemental table 2. All genetic variants investigated in women with idiopathic recurrent spontaneous abortion

Gene Variant Investigated (names according to HUGO gene nomenclature) in only one study 1. A1BG alpha-1-B glycoprotein 1. 5C/T (Kozak) X 2. HPA2a/b X 3. VNTR X 2. ABCB1 ATP-binding cassette, sub- 4. rs1045642 X family B (MDR/TAP), member 1 3. ABO ABO blood group 5. X 4. ACE angiotensin I converting 6. rs1799752 enzyme (I/D in intron 16) 5. ACHE acetylcholinesterase 7. I/D X 6. ACP1 acid phosphatase 1, soluble 8. A/B/C 7. ACVR1 activin A receptor, type I 9. rs2033962 X 8. ADA adenosine deaminase 10. ? 9. ADH1B alcohol dehydrogenase 1B 11. rs1229984 X (class I), beta polypeptide 10. ADIPOQ adiponectin, C1Q and 12. rs1501299 X collagen domain containing 13. rs2241766 X 11. ADRA2B adrenoceptor alpha 2B 14. I/D X 12. ADRB3 adrenoceptor beta 3 15. rs4994 X 13. AGT angiotensinogen 16. rs699 14. AGTR1 angiotensin II receptor, type 1 17. rs5186 15. AHR aryl hydrocarbon receptor 18. rs2066853 X 16. AK1 adenylate kinase 1 19. ? X 17. ALDH2 aldehyde dehydrogenase 2 20. rs671 X family (mitochondrial) 18. ALPP alkaline phosphatase, 21. sequencing X placental 19. AMN amnion associated 22. sequencing X transmembrane protein 20. ANGPT2 angiopoietin 2 23. Eco57l in exon 4 X 21. ANXA5 annexin A5 24. rs12782763 (-467G/A) 25. rs28717001 (-448A/C) 26. rs28651243 (-422T/C) 27. rs13588187 (-373G/A) 28. rs1050606 (-302T/C) 29. rs1575945 (-1T/C) 22. APOB apolipoprotein B 30. rs5742904 (R3500Q) 23. APOE apolipoprotein E 31. rs429358 X 32. E2/E3/E4 24. AR androgen receptor 33. GGN repeats X 34. CAG repeats 35. rs6152 25. ARNT aryl hydrocarbon receptor 36. D/N 511 X nuclear translocator 26. BAX BCL2-associated X protein 37. A(-179)G X 38. G90C X 39. G95A X 27. C4A complement component 4A 40. ? 28. C4B complement component 4B 41. ? 29. C4BPA complement component 4 42. sequencing X binding protein, alpha 30. C4BPB complement component 4 43. sequencing X binding protein, beta 31. CAT catalase 44. rs17880664 X 32. CBGa (SERPINA6) serpin peptidase inhibitor, 45. rs2281517 X clade A (alpha-1 antiproteinase, antitrypsin), member 6 33. CCR5 chemokine (C-C motif) 46. rs333 X receptor 5 47. rs1799987 X 34. CD14 CD14 molecule 48. rs2569190 X 35. CD55 CD55 molecule 49. sequencing X 36. CFB complement factor B 50. ? X 37. CGB5 chorionic gonadotropin, beta 51. rs4801789 X polypeptide 5 52. gene deletions X 53. sequencing 38. CGB8 chorionic gonadotropin, beta polypeptide 8 54. sequencing 39. Complement ? 55. sequencing X control proteins 40. COMT catechol-O- 56. rs4680 X methyltransferase 41. CPB2 carboxypeptidase B2 57. rs2146881 X (plasma) 58. rs3742264 X 59. rs940 X 60. rs1087 X 61. rs1926447 42. CTLA4 cytotoxic T-lymphocyte- 62. (AT)n30 UTR X associated protein 4 63. rs231775 (+49 A/G) 43. CX3CR1 chemokine (C-X3-C motif) 64. rs3732378 X receptor 1 65. rs3732379 X 44. CYP1A1 cytochrome P450, family 1, 66. rs1048943 (Ile462Val) subfamily A, polypeptide 1 67. rs4646903 (3698 T/C) 45. CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 68. rs62551 46. CYP1B1 cytochrome P450, family 1, 69. rs1056836 X subfamily B, polypeptide 1 47. CYP2D6 cytochrome P450, family 2, 70. rs3892097 X subfamily D, polypeptide 6 48. CYP21A2 cytochrome P450, family 21, 71. ? X subfamily A, polypeptide 2 49. DICER1 dicer 1, ribonuclease type III 72. rs3742330 X 50. DROSHA drosha, ribonuclease type III 73. rs10719 X 51. ESR1 estrogen receptor 1 74. rs3020314 X 75. TA repeat X 76. variant B' X 77. rs9340799 (c.454-351 A/G) 78. rs2234693 (c.454-397 T/C) 52. ESR2 estrogen receptor 2 79. CA repeat X 80. rs1256049 (1082 G/A) 81. rs4986938 (1730 G/A) 53. F2 coagulation factor II 82. rs1799963 (G20210A) 54. F5 coagulation factor V 83. sequencing X 84. Y1702C 85. 4070 A/G 86. Leiden 55. F7 coagulation factor VII 87. -323 P0/P10 X 88. rs510317 X 89. Gln353Arg X 56. F12 coagulation factor XII 90. rs1801020 (46 T/C) 57. F13 coagulation factor XIII 91. Glu567Glu X 92. Val650Ile X 93. Glu651Gln X 94. rs3024477 (T204P) 95. C1694T 96. rs5985 (V34L) 58. FAS Fas cell surface death 97. rs2234767 X receptor 98. rs1800682 (-670 G/A) 59. FASL Fas ligand 99. rs763110 X 60. FBLN1 fibulin 1 100.rs9682 X 61. FGB fibrinogen beta chain 101.rs4220 X 102.rs1800790 (-455 G/A) 62. FOXP3 forkhead box P3 103.rs3761548 104.rs2232365 105.rs5902434 106.rs2294021 63. FSHR follicle stimulating hormone 107.rs1394205 X receptor 108.rs6166 64. GCCRa (NR3C1) nuclear receptor subfamily 109.rs41423247 X 3, group C, member 1 110.rs6198 X (glucocorticoid receptor) 65. GCLC glutamate-cysteine ligase, 111.rs17883901 X catalytic subunit 66. GP6 glycoprotein VI (platelet) 112.rs1671153 X 113.rs1654410 X 114.rs1654419 X 115.rs1613662 X 67. GPX4 glutathione peroxidase 4 116.rs713041 X 68. GSTA1 glutathione S-transferase alpha 1 117.rs3957357 (-69 C/T) 69. GSTM1 glutathione S-transferase mu 1 118.null/present 70. GSTO1 glutathione S-transferase 119.rs4925 X omega 1 120.rs11509437 X 121.rs11509438 X 71. GSTO2 glutathione S-transferase 122.rs156697 X omega 2 72. GSTP1 glutathione S-transferase pi 123.rs1695 (A313G) 1 73. GSTT1 glutathione S-transferase 124.null/present theta 1 74. H19 H19 125.HhaI X 75. HLA-I major histocompatibility 126.A complex, class I 127.B 128.Bw 129.C 76. HLA-II major histocompatibility 130.DRB3 X complex, class II 131.QBP X 132.DQ 133.DQA1 134.DQB1 135.DR 136.DRB1 137.DPA1 138.DPB1 77. HLA-E major histocompatibility 139. complex, class I, E 78. HLA-G major histocompatibility 140.0102 X complex, class I, G 141.01B X 142.0106 143.I/D 14-bp 144.0101 145.0103 146.0104 147.0105N 79. HMOX1 heme oxygenase 1 148.(GT)n repeat X 80. HRG histidine-rich glycoprotein 149.rs9898 X 150.rs2228243 X 81. HSD3B1 hydroxy-delta-5-steroid 151.rs6203 X dehydrogenase, 3 beta- and steroid delta-isomerase 1 82. IDO1 indoleamine 2,3- 152.rs4259403 X dioxygenase 1 153.rs3739319 X 154.rs9298586 X 83. IFNG interferon, gamma 155.rs62559044 (+874 A/T) 84. IGF2 insulin-like growth factor 2 156.rs680 X 85. IGF2R insulin-like growth factor 2 157.rs629849 X receptor 86. IL1A interleukin 1, alpha 158.rs1800587 X 159.rs17561 X 87. IL1B interleukin 1, beta 160.rs1143634 (+3953 C/T) 161.rs1143627 (-31 C/T) 162.rs16944 (-511 T/C) 163.rs1143627 X 164.rs1143633 X 88. IL1RN interleukin 1 receptor 165.rs454078 X antagonist 166.rs423904 X 167.rs419598 X 168.rs315952 X 169.rs2234650 X 170.VNTR intron 2 89. IL10 interleukin 10 171.rs1878672 X 172.rs3024492 X 173.rs1554286 X 174.rs1518111 X 175.rs3024491 X 176.rs3024490 X 177.rs3021097 (-819 C/T) 178.rs1800872 (-592 C/A) 179.rs1800896 (-1082 G/A) 90. IL10RA interleukin 10 receptor, 180.rs3135932 X alpha 91. IL12 interleukin 12 181.I/D X 92. IL17 interleukin 17 182.rs763780 X 183.rs2275913 (-197 G/A) 93. IL18 interleukin 18 184.rs360718 (-119 A/C) 185.rs360717 (-105 G/A) 186.rs1946519 (-656 G/T) 187.rs1946518 (-607 A/C) 188.rs187238 (-137 C/G) 94. IL21 interleukin 21 189.rs9992580 X 190.rs4833837 X 191.rs2055979 X 192.rs13143866 X 95. IL4 interleukin 4 193.rs2243250 (-590 C/T) 194.VNTR in intron 3 96. IL4R interleukin 4 receptor 195.rs1805010 X 97. IL6 interleukin 6 196.rs1800797 X 197.rs2069827 X 198.rs1548216 X 199.rs1800796 (-634 G/C) 200.rs1800795 (-174 C/G) 98. INHA inhibin, alpha 201.rs35118453 X 99. ITGA2B integrin, alpha 2b 202.rs1126643 (C807T) 100.ITGB3 integrin, beta 3 203.rs5918 (1565 T/C) 101.JAK2 Janus kinase 2 204.rs2230724 102.KDR kinase insert domain 205.rs17709898 X receptor 206.rs6838752 X 207.rs7654599 X 208.rs3828550 X 209.rs11941492 X 210.rs7692791 X 211.rs6837735 X 212.rs1531290 X 213.rs2071559 X 214.rs2305948 (1192 G/A) 215.rs1870377 (1719 A/T) 103.KIR killer cell immunoglobulin- 216.KIR3DX1 X like receptor 217.KIR3DP1 X 218.KIR3DL2 219.KIR2DP1 220.KIR3DL3 221.KIR2DL4 222.KIR2DL1 223.KIR2DL2 224.KIR2DL3 225.KIR3DL1 226.KIR2DS1 227.KIR2DS2 228.KIR2DS3 229.KIR2DS4 230.KIR2DS5 231.KIR3DS1 232.KIR2DL5 104.LEP leptin 233.rs7799039 X 234.2549 C/A X 105.LEPR leptin receptor 235.rs1137101 X 106.LHCGR luteinizing 236.rs2293275 X hormone/choriogonadotropi 237.rs12470652 X n receptor 107.LIF leukemia inhibitory factor 238.rs929271 X 108.LTA lymphotoxin alpha 239.sequencing X 240.rs909253 (+252 A/G) 109.MBL mannose-binding lectin 241.-349 X (protein C) 2, soluble 242.-336 X 243.-324-329 X 244.rs7095891 (+4 P/Q) 245.rs11003125 (-550H/L) 246.rs7096206 (-221 X/Y) 247.rs5030737 (codon 52) 248.rs1800450 (codon 54) 249.rs1800451 (codon 57) 110.MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase 250.rs2279744 111.MICA MHC class I polypeptide- 251.rs1051792 X related sequence A 112.MIR125a microRNA 125a 252.52196480 A/G X 253.52196210 G/A X 254.rs41275794 255.rs12976445 113.MIR146a microRNA 146a 256.rs2910164 114.MIR149 microRNA 149 257.rs2292832 115.MIR196a microRNA 196a 258.rs11614913 116.MIR499 microRNA 499 259.rs3746444 117.MMP1 matrix metallopeptidase 1 260.rs1799750 X 118.MMP2 matrix metallopeptidase 2 261.rs2285053 X 262.rs243865 X 119.MMP3 matrix metallopeptidase 3 263.rs35068180 X 120.MMP9 matrix metallopeptidase 9 264.rs3918242 (-1562 C/T) 121.MT-ND1 mitochondrially encoded 265.T4216C X NADH dehydrogenase 1 122.MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 266.rs2236225 (1985 G/A) 123.MTHFR methylenetetrahydrofolate 267.rs2274976 X reductase 268.rs1801133 (C677T) 269.rs1801131 (A1298C) 124.MTR 5-methyltetrahydrofolate- 270.rs1805087 (2756 A/G) homocysteine methyltransferase 125.MTRR 5-methyltetrahydrofolate- 271.rs10380 X homocysteine 272.rs1801394 (A66G) methyltransferase reductase 126.NAT2 N-acetyltransferase 2 273.? 127.NFE2L2 nuclear factor, erythroid 2- 274.rs6721961 X like 2 128.NKG2A (Natural 275.rs1983526 X Killer Group 2D)? 129.NKG2D (Natural 276.rs1049174 X Killer Group 2D)? 277.rs2255336 X 278.rs2617160 X 279.rs2617161 X 280.rs2246809 X 281.rs2617169 X 282.rs2617170 X 130.NLRP2 NLR family, pyrin domain 283.rs8102561 X containing 2 284.rs1654503 X 285.rs775893 X 286.rs12768 X 131.NLRP7 NLR family, pyrin domain containing 7 287.sequencing 132.NOS3 288.rs743507 X nitric oxide synthase 3 289.rs11771443 X (endothelial cell) 290.rs1541861 X 291.rs2853792 X 292.rs2853796 X 293.rs7830 X 294.rs79468462 X 295.rs9282804 X 296.rs617606555 X 297.rs1007311 X 298.I/D intron 4 299.rs3918188 (-734 C/A) 300.rs2070744 (-786 T/C) 301.rs1799983 (+894 G/T) 133.OGG1 8-oxoguanine DNA 302.rs1052133 X glycosylase 134.P53a (TP53) tumor protein p53 303.11827 C/G X 304.11992 C/A X 305.12032 G/A X 306.13399 A/G X 307.13964 G/C X 308.14181 C/T X 309.14201 T/G X 310.14766 T/C X 311.rs1042522 (C72 C/G) 135.PAI-1a (SERPINE1) serpin peptidase inhibitor, 312.rs1799768 X clade E (nexin, plasminogen 313.rs6092 X activator inhibitor type 1), 314.rs2227694 X member 1 315.rs7242 X 316.rs2227631 (-844 G/A) 317.rs1799889 (-675 4G/5G) 136.PAPPA pregnancy-associated plasma protein A 318.rs7020782 137.PAR1a (F2R) coagulation factor II 319.-1426C/T X (thrombin) receptor 320.rs11267092 X 321.rs168753 X 138.PDE8B 322.rs4704397 X phosphodiesterase 8B 139.PGM1 phosphoglucomutase 1 323.? X 140.PGR progesterone receptor 324.1978 G/T X 325.rs590688 X 326.rs518162 X 327.rs545835 X 328.rs503362 X 329.rs508533 X 330.rs560291 X 331.rs590688 X 332.rs11224592 X 333.rs10895068 X 334.1031 G/C 335.rs1042839 (2310 C/T) 336.rs1042838 (V660L) + I/D in intron G 141.PLAU plasminogen activator, 337.rs2227564 X urokinase 142.PLAUR plasminogen activator, 338.rs4251923 X urokinase receptor 143.PLG plasminogen 339.rs4252114 X 144.PPARG peroxisome proliferator- 340.rs1801282 X activated receptor gamma 145.PRL 341.rs1341239 X prolactin 342.rs2244502 X 146.PRLR prolactin receptor 343.rs9292573 X 344.rs37389 X 345.rs13354826 X 147.PROC protein C 346.rs1799809 X 347.rs1799808 X 148.PROCR protein C receptor, 348.c.323-20 T/C X endothelial 349.rs867186 (4600 A/G) 350.rs867186 (G4678C) 351.c.323-9_336dup 149.PROK1 prokineticin 1 352.rs3795828 X 353.rs12409155 X 354.rs7513898 X 355.rs3806451 X 356.IVS1 -2 A>G X 357.rs4839391 X 358.rs139466708 X 359.rs1044837 X 360.rs7514102 150.PROKR1 prokineticin receptor 1 361.rs4627609 X 362.rs6731838 X 363.S40G X 364.G77S X 365.L93L X 366.P169P X 367.A194S X 368.F314F X 369.I379V X 370.rs3746684 151.PROKR2 prokineticin receptor 2 371.rs6053283 X 372.rs6053286 X 373.rs6085088 X 374.rs8116536 X 375.A51T X 376.F50F X 377.L127R X 378.V131I X 379.Y140C X 380.T195T X 381.V331M X 382.N370N X 383.T374T X 152.PROZ protein Z 384.rs3024718 X 385.rs3024719 X 386.rs3024778 X 387.rs3024731 X 388.rs3024772 X 389.rs3024735 (79 G/A) 153.RAN RAN 390.rs14035 X 154.RETN resistin 391.rs1862513 X 155.SELP selectin P 392.rs1800807 X 393.rs1800805 X 394.rs6127 X 156.SERPINA10 serpin peptidase inhibitor, 395.rs2232698 X clade A (alpha-1 396.W303X X antiproteinase, antitrypsin), member 10 157.SERPINB2 serpin peptidase inhibitor, 397.rs6103 X clade B (ovalbumin), 398.rs6098 X member 2 158.SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 399.rs2227589 159.SHBG sex hormone-binding 400.rs6259 X globulin 401.rs1799941 X 402.rs6257 X 403.TAAAA repeat X 160.SLC19A1 solute carrier family 19 404.rs1131596 X (folate transporter), member 405.rs1051266 (G80A) 1 406.C696T 161.SOD2 superoxide dismutase 2, 407.rs4880 X mitochondrial 162.STAT3 signal transducer and 408.rs1053004 activator of transcription 3 409.rs1053023 163.SULF1 sulfatase 1 410.rs6990375 X 164.SYCP3 synaptonemal complex 411.c.IVS7–16_19 del X protein 3 412.754 A/G X 413.T657C 165.TCBIRa (CD320) transcobalamin II receptor 414.rs9426 X 166.TCN2 transcobalamin II 415.rs9606756 X 416.rs1801198 X 167.TFF3 trefoil factor 3 (intestinal) 417.rs77436142 X 418.rs11701143 X 419.rs225361 X 420.rs533093 X 421.rs225439 X 168.TFPI tissue factor pathway 422.rs10931292 X inhibitor 423.rs10153820 X 424.rs8176592 (-33C) 169.TGFB1 transforming growth factor, 425.rs1800474 (788 C/T) X beta 1 426.−14G→A X 427.IVS1 + 4210G→T X 428.IVS4 + 131-133delC X 429.IVS5 + 18G→C X 430.IVS5 + 51C→T X 431.IVS5 + 9582C→T X 432.IVS6 + 910G→A X 433.rs1800471 (+915 G/C) 434.rs1800470 (+869 T/C) 435.rs1800468 (-800 G/A) 436.rs1800469 (-509 C/T) 437.rs1982073 (29 T/C) 170.THBD thrombomodulin 438.rs1042579 439.sequencing 171.THRB thyroid hormone receptor, 440.rs3752874 X beta 172.TIM3a (HAVCR2) hepatitis A virus cellular 441.rs10053538 X receptor 2 442.rs10515746 X 173.TIMP1 TIMP metallopeptidase 443.rs4898 (-372 C/T) inhibitor 1 174.TIMP2 TIMP metallopeptidase 444.rs2277698 (-303 C/T) inhibitor 2 175.TIMP3 TIMP metallopeptidase 445.rs2234921 (-915 A/G) inhibitor 3 446.rs5749511 (-1296C/T) 176.TIMP4 TIMP metallopeptidase 447.rs17035945 (3'UTR inhibitor 4 C/T) 177.TNF tumor necrosis factor 448.rs1800629 (+488 G/A) X 449.rs1800750 (-376 G/A) 450.rs1800629 (-308 G/A) 451.rs361525 (-238 G/A) 452.rs1799964 (-1031T/C) 453.rs1800630 (-863 C/A) 454.rs1799724 (-857 C/T) 178.TNFRSF1A tumor necrosis factor 455.A36G X receptor superfamily, 456.BglII X member 1A 179.TP63 tumor protein 63 457.rs1706395 X 180.TP73 tumor protein 73 458.rs6695978 X 181.TPH1 tryptophan hydroxylase 1 459.rs1800532 X 182.TSHR thyroid stimulating hormone 460.rs2234919 X receptor 461.rs1991517 X 183.TYMS thymidylate synthetase 462.1494 0bp/6bp X 463.rs34743033 (28bp X VNTR) 184.UCP2 uncoupling protein 2 464.45-bp I/D X 185.USP26 ubiquitin specific peptidase 465.Ins ACA 370-371 X 26 466.1423C/T X 467.494 T/C X 468.1090C/T X 469.1737G/A X 186.VEGFA vascular endothelial growth 470.rs833070 X factor A 471.rs3025020 X 472.rs833068 X 473.rs833069 X 474.rs3024997 X 475.rs3024998 X 476.rs3025000 X 477.rs3025006 X 478.rs3025030 X 479.rs2146323 X 480.rs3025033 X 481.rs3025035 X 482.rs10434 X 483.2349 X 484.-2549 I/D X 485.rs833061 (-460 T/C) 486.rs3025020 (-583 T/C) 487.rs3025010 488.rs699947 (-2578 C/A) 489.rs1570360 (-1154G/A) 490.rs3025039 (+936 C/T) 491.rs2010963 (-634 G/C) 187.XPO5 exportin 5 492.rs11077 X

HPA – human platelet antigen; I/D – insertion/deletion; UTR – untranslated region; VNTR – variable number of tandem repeats aprevious name