Review Article

Interplay between Misplaced Müllerian-Derived Stem Cells and Peritoneal Immune Dysregulation in the Pathogenesis of Endometriosis

Table 1

Genetic variants associated with endometriosis.

Author(s)Genetic variants

Treloar et al., 2005 [53] Significant linkage on chromosome 10q26 and chromosome 20p13

Singh et al., 2008 [54]Upregulation of dioxin-inducible CYP1A1 and gamma-SYN and of Estrogen Receptor

Wu et al., 2012 [55]Polymorphisms of dioxin receptor complex components and detoxification-related genes

Vichi et al., 2012 [56]GSTP1(Ile/Ile) and GSTM1 null genotypes, modulating the effect of PCB153, PCB180, and of total PCBs

Painter et al., 2011 [57] rs11592737 in the cytochrome P450 subfamily C (CYP2C19)

Costa et al., 2011 [58]PROGINS polymorphisms (A1/A1, A1/A2 and A2/A2)

Govatati et al., 2012 [59]E-cadherin −347GA/GA and −160A/A genotypes and −347GA/−160A/+54C and −347G/−160A/+54C haplotypes

Guo, 2006 [60]CYP17, CYP19, Androgen Receptor, Progesterone Receptor, and Estrogen Receptor genetic variants are not associated with endometriosis

Kim et al., 2011 [61]IGF-II 820G>A polymorphism

Kim et al., 2012 [62]AAG haplotype allele of the −672A>G, −202A>C and c.95C>G polymorphisms in the IGFBP3

Çayan et al., 2010 [63]IRS2 G1057D polymorphism

Ammendola et al., 2008 [64]PTPN22 T variant

Lee et al., 2009 [65]C627T polymorphism of the IL-2R beta

Gonçalves-Filho et al., 2011 [66]PAI-1 4G/5G polymorphism

André et al., 2011 [67]FOXP3 polymorphisms (rs3761549)

Barbosa et al., 2012 [68]Allele FOXP3 T for genotypes FCRL3TT/FOXP3CT, FCRL3CT/FOXP3CT, FCRL3CC/FOXP3CT

Ruiz et al., 2011 [69]Variants in LOXL4 and complement C3

Medeiros et al., 2012 [70]HMGA rearrangements

Nyholt et al., 2012 [71]WNT4, VEZT, GREB1 polymorphism