Table 1.
List of Genome Wide Association Studies.
| REFERENCE | PAPER PMID | ETHNICITY | STUDY TYPE | CASES (N) | CONTROLS (N) | ENDOME TRIOSIS DIAGNOSIS | CONTROLS SELECTION | STAGES OF THE STUDY | ASSOCIATED SNPs | SNP NAMES |
|---|---|---|---|---|---|---|---|---|---|---|
| (a) Discovery Study | ||||||||||
| Uno et al., 2010 [30] | 20601957 | Asian | Case-control of hospital based | 1907 | 5292 | Laparoscopy | Laparoscopy | Discovery | 1 | rs10965235 (CDKN2BAS) |
| Adachi et al., 2010 [31] | 20844546 | Asian | Meta-analysis of population and hospital based | 696 | 825 | Medical history, MRI and laparoscopy | Medical history, MRI and laparoscopy | Discovery | 5 | rs6542095, rs11677416, rs3783550 and rs3783525 (near IL1 A gene) and rs801112 (RHOU) |
| Painter et al., 2011 [32] | 3019124 | Oceania and European | Meta-analysis of population and hospital based | 3194 | 7060 | Laparoscopy | Men, medical history and laparoscopy | Discovery | 1 | rs12700667 (NFE2L3-HOXA10) |
| Nyholt et al., 2012 [33] | 23104006 | Oceania and European | Meta-analysis of population and hospital based | 4604 | 9393 | Laparoscopy | Men, medical history and laparoscopy | Discovery | 7 | rs12700667 (NFE2L3-HOXA10 ), rs75211902 (WNT4), rs1537377 (CDKN2B-AS1), rs10859871 (VEZT), rs4141819 (ETAA1), rs77399264 (ID4), rs13394619 (GREB1) |
| Pagliardini et al., 2013 [34] | 23142796 | Asian and European | Meta-analysis of population and hospital based | 305 | 2710 | Laparoscopy | Laparoscopy blood donors | Discovery | 3 | rs1333049 (CDKN2BAS), rs7521902 (WNT4), rs1250248 (FN1) |
| Albertsen et al., 2013 [35] | 23472165 | European | Case-control of hospital base | 2019 | 14,471 | Laparoscopy | Laparoscopy | Discovery | 3 | rs2235529 (LINC00339-WNT4),rs1519761 and rs6757804 (RND3) |
| Rahmioglu et al., 2014 [36] | 24676469 | American, European and Oceania | Meta-analysis of population and hospital based | 11,506 | 32,678 | Laparoscopy | Laparoscopy | Discovery | 6 | rs12700667 (NFE2L3-HOXA10),rs7521902 (WNT4), rs10859871 (VEZT) rs1537377 (CDKN2B-AS1), rs7739264 (ID4), rs13394619 (GREB1) |
| Borghese et al., 2015 [37] | 25722978 | European | Meta-analysis of population and hospital based | 60 | 20 | Laparoscopy | Laparoscopy | Discovery | 4 | rs4703908 (ZNF366),rs227849 (RUNX2/ SUPT3H), rs2479037 (VTI1A) and rs966674 (NA) |
| Sapkota et al., 2015 [38] | 26337243 | Asian, African, European and Oceania | Meta-analysis of population and hospital-based | 998 | 783 | Laparoscopy | Laparoscopy | Discovery | 6 | rs7521902 (WNT4), rs13394619 in GREB1, rs12700667 (NFE2L3-HOXA10), rs6542095 (IL1A, rs7739264 (ID4) and rs1537377 (CDKN2B-AS1) |
| Wang et al., 2016 [39] | 27506219 | Asian | Case-control of hospital based | 1448 | 1540 | Laparoscopy | Laparoscopy | Discovery | 3 | rs11692361 (MEIS1), rs10256972 (C7orf50), rs4966038 (IGF-1R) |
| Uimari et al., 2017 [40] | 28333195 | Oceania and European | Case-control of hospital-based | 3194 | 7060 | Laparoscopy | Men, medical history and laparoscopy | Discovery | 1 | rs144240142 (MAP3K4) |
| Sapkota et al., 2017 [41] | 28537267 | Asian, Oceania European and American | Meta-analysis of population and hospital-based | 17,045 | 191,596 | Laparoscopy | Medical history and laparoscopy | Discovery | 19 | rs12037376 (WNT4), rs11674184 and rs77294520 (GREB1), rs6546324 ( ETAA1), rs4762326 (VEZT), rs10167914 (IL1A), rs1903068 (KDR), rs760794 (ID4),rs74485684 (FSHB), rs12700667 (NFE2L3-HOXA10), rs1537377, rs1075727 and rs1448792 (CDKN2B-AS1), rs1250241 (FN1), rs1971256 (CCDC170), rs71575922 and rs17803970 (SYNE1) rs2206949 (ESR1), rs74491657 (7p12.3) |
| Sobalska-kwapis et al., 2017 [42] | 28881265 | European | Case-control of hospital based | 171 | 2934 | Laparoscopy | Medical History | Discovery | 19 | 18 SNPs (near of C2)and rs10129516 (PARP1P2-RHOJ) |
| Sapkota et al., 2017 [43] | 28900119 | Oceania, European and American | Meta-analysis of population and hospital based | 9000 | 150,001 | Medical History Laparoscopy | Medical History and Laparoscopy | Discovery | 3 | rs13394619 (GREB1 at 2p25.1), rs1801262 (CUBN), gene-level (CIITA et PARP4) |
| Painter et al., 2018 [44] | 29608257 | European | Case-control of hospital based | 3194 | 2057 | Laparoscopy | Laparoscopy | Discovery | 13 | rs2475335 (PTRD), rs9865110 (PDZRN3-CNTN3), rs2278868 (SKAP1), rs12303900 (KITLG-DUSP6) rs9349553(TFAP2D), rs10008492 (KLF3-TLR10), rs9530566 (LMO7-KCTD12), rs17693745 (CEP112), rs1755833 (PRIM2), rs7515106 (WNT4-ZBTB40), rs10459129 (PARP11-CCND2) rs2198894 (ZNF536-TSHZ3), rs7042500 (THEM215-APTX) |
| Christofolini et al., 2019 [45] | 30044155 | European | Case-control of hospital based | 394 | 650 | Laparoscopy | Laparoscopy | Discovery | 2 | rs10928050 (KAZN) and rs2427284 (LAM5) |
| Adewuyi et al., 2020 [46] | 32121467 | European, Asian and American | Meta-analysis of population and hospital based | 76,728 | 507,936 | Medical history and laparoscopy | Medical History | Discovery | 3 | SNPs nears ARL14EP , TRIM32, and SLC35G6 |
| (b) Replication Study | ||||||||||
| Painter et al., 2011 [32] | 3019124 | Oceanie | Meta-analysis of population and hospital based | 2392 | 2271 | Laparoscopy | Men, medical history and laparoscopy | Replication | 1 | rs12700667 (NFE2L3-HOXA10) |
| Nyholt et al., 2012 [33] | 23104006 | Asian Oceanie | Meta-analysis of population and hospital based | 1044 | 4017 | Laparoscopy | Men, medical history and laparoscopy | Replication | 7 | rs12700667 (NFE2L3-HOXA10 ), rs75211902 (WNT4), rs1537377 (CDKN2B-AS1), rs10859871 (VEZT),rs4141819 (ETAA1), rs77399264 (ID4), rs13394619 (GREB1) |
| Albertsen et al., 2013 [35] | 23472165 | European | Meta-analysis of population and hospital based | 505 | 1811 | Laparoscopy | Laparoscopy | Replication | 3 | rs2235529 (LINC00339-WNT4),rs1519761 and rs6757804 (RND3) |
| Sapkota et al., 2015 [38] | 26337243 | Asian, African | Meta-analysis of population and hospital based | 998 | 783 | Laparoscopy | Laparoscopy | Replication | 6 | rs7521902 (WNT4), rs13394619 in GREB1 rs12700667 (NFE2L3-HOXA10) |
| Osiński et al., 2018 [47] | 30010178 | European | Case-control of hospital base | 315 | 406 | Laparoscopy | Medical History | Replication | 2 | rs12700667 (NFE2L3-HOXA10) and rs4141819 (ETAA1) |
| (c) Connection between Endometriosis and Others Pathologies | ||||||||||
| Painter et al., 2011 [32] | 3019124 | Oceanie and European | Meta-analysis of population and hospital based | 3194 | 7060 | Laparoscopy | Men, medical history and laparoscopy | Discovery | 1 | rs12700667 (NFE2L3-HOXA10) |
| Gallagher et al., 2019 [48] | 31649266 | European | Case-control of hospital base | 35,474 | 267,505 | Medical history, MRI | Medical history, MRI | Discovery | 4 | rs58415480 (ESR1), rs11031006 (FSHB), rs35417544 (GREB1), rs7412010 (WNT4) |
| Adewuyi et al., 2020 [46] | 32959083 | European, Asian and Americanian | Meta-analysis of population and hospital based | 187,810 | 521,301 | Laparoscopy | Medical History and laparoscopy | Discovery | 26 | rs116810322 (TRIM26), rs11793648 (TRIM32), rs9891297 (SLC35G6), rs1395455 (CSF3R), rs1620977 (NEGR1), rs12121863 (CRB1), rs9586 (KLHDC8B), rs9835157 (IP6K1), rs12512642 ( SCLT1), rs13164188 (NUDT12), rs7933594 (TYR), rs6680839 (TNR), rs72740410 (BRINP3), rs13118306 (CC2D2A), rs2134025 (TACR3) rs9347896 (C6orf1), rs11784932 (GSDMC), rs9538160 (PCDH17), rs35625885 (NR2F2), rs6808036 (CCDC36), rs323509 (NUDT12), rs6788293 (LINC00620) |
GWA: Genome wide association study, MRI: magnetic resonance imaging, PMID: Pubmed identifer, RS: RefSNP, SNP: single nucleotide polymorphism.