Advances in the genetics of endometriosis

Table 1 Commonly reported endometriosis candidate genes from association studies

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

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.

ISSN: 1756-994X