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Table 1 Commonly reported endometriosis candidate genes from association studies

From: Advances in the genetics of endometriosis

Process regulated Candidate gene Gene symbol Chromosomal locus Number of positive studies Number of negative studies
Xenobiotic metabolism Glutathione M-transferase 1 GSTM1 1p13.3 9 12
  Glutathione S-transferase 1 GSTT1 22q11.2 7 7
  N-acetyl-transferase 2 NAT2 8p22 1 4
  Aryl hydrocarbon receptor repressor AHRR 5p15 3 1
Hormone receptors or metabolism Estrogen receptor α ESR1 6q24-27 8 3
  Progesterone receptor PR 11q22-33 4 2
  Cytochrome P450, family 17, subfamily A, polypeptide 1 CYP17A1 10q24 3 6
  Cytochrome P450, family 19, subfamily A, polypeptide 1 CYP19A1 15q21 5 2
  Cytochrome P450, family 1, subfamily A, polypeptide 1 CYP1A1 15q24 1 3
  Hydroxysteroid (17-β) dehydrogenase 1 HSD17B1 17q11-21 3 0
Inflammation or angiogenesis Tumor necrosis factor α TNFA 6p21.3 2 7
  Interleukin-6 IL-6 7p15.3 4 4
  Interleukin-10 IL-10 1q31-32 7 0
  Vascular endothelial growth factor A VEGFA 6p21-12 5 1
  Intercellular adhesion molecule 1 ICAM1 19p13 2 3
Other processes Galactose-1-phosphate uridyl transferase GALT 9p13 2 2
  Tumor suppressor p53 TP53 17p13 2 7
  HLA class II histocompatibility antigen, DRB1-9 β chain HLA-DRB1 6p21 3 4
  1. Association studies in English on the most commonly studied candidate genes were identified by performing a PubMed literature search up to 23 June 2010. If a published study identified one or more positive associations, we identified this study as positive, otherwise negative. Variants of the ESR2, peroxisome proliferator-activated receptor γ2 (PPAR-γ2), nuclear factor κB1 (NFKB1), E-cadherin, matrix metalloproteinase 1 (MMP1), MMP9, cyclin dependent kinase inhibitor p27 (CDKN1B), neurokinin-1 (TAC1),nitric oxide synthase 3 (NOS3), fibroblast growth factor 1 (FGF1), FGF2 and catechol-O-methyltransferase (COMT) genes have also been investigated as candidate genes potentially associated with endometriosis.