Gene/ Protein Name | Protein Function | Mutation/ Polymorphism | Risk of Endometriosis/Infertility | Population | References |
---|---|---|---|---|---|
ESR 1 Estrogen receptor alpha | Hormone Receptor | (TA)n Short | Increased/Un-reported | Mixed | Wang et al., 2013 [86] |
(TA)n Long | Decreased/Unreported | Mixed | Wang et al., 2013 [86] | ||
rs3798573 A/G | Increased/Increased | Han Chinese | Wang et al., 2013 [86] | ||
ESR 2 Estrogen receptor beta | Hormone Receptor | rs4986938 and rs1256049 polymorphisms | No significant association detected/ Unreported | Asian and European-American | Guo et al., 2014 [87] |
PR Progesterone Receptor | Hormone Receptor | rs104283 CT SNP | Increased/Un-reported | Southern Han Chinese | Mao et al., 2015 [88] |
GST Glutathione-S-transferases M1/T1 | Metabolic Enzyme | Null genotype | Increased/ Unreported | Chinese | |
GALT Galactose-1-phosphate uridyl transferase | Metabolic Enzyme | Q188R and N314D | No significant association detected/ Unreported | Chinese | He et al., 2006 [90] |
BDNF Human brain-derived neurotrophic factor | Tropic factor | Val66Met polymorphism | Increased/Increased | Han Chinese | Zhang et al.,2012 [91] |
FGF2 Fibroblast Growth Factor 2 | Growth factor | 754C/G polymorphism | Increased/Un-reported | North Chinese | Kang et al., 2012 [92] |
VEGF Vascular endothelial growth factor | Growth factor | +405G > C | No significant association detected/ Unreported | Asian and European-American | Fang et al., 2015 [93] |
-1154A | Decreased/Unreported | North Chinese | Liu et al., 2009 [94] | ||
-2578A | Decreased/Unreported | North Chinese | Liu et al., 2009 [94] | ||
VEGFR-2 Vascular endothelial growth factor receptor 2) | Growth factor receptor | 1192C/T + T/T | Decreased | Han Chinese | Kang et al., 2013 [95] |
1192C/C | Increased | ||||
TP53 | Tumor suppressor | codon 72 polymorphism Pro/Pro and Arg/Pro | Increased | Chinese and Asian | |
MMP-2 Matrix metalloproteinase-2 |  | 1306C-- > T and -735C-- > T | Increased/Unreported | North Chinese | Kang et al., 2008 [98] |
TIMP-2 Tissue inhibitor of metalloproteinase-2 |  | 418G-- > C | Decreased/Unreported | North Chinese | Kang et al., 2008 [98] |
E-Cadherin | Cell Adhesion Molecule | rs8049282 SNP | Increased/Increased | Northern Chinese | Kang et al., 2014 [99] |
COX-2 Cyclo-oxygenase 2 | Inflammatory pathway Enzyme | G to A at − 1195 (promoter) | Increased/ Unreported | Chinese | Wang et al., 2015 [100] |
ICAM-1 Intercellular Adhesion Molecule 1 | Cell Adhesion Molecule | K469E polymorphism | Further decreased in Asian populations compared to European-Americans/Unreported | Asian and European-American | Pabalan et al., 2015 [101] |
CYP19 | Aromatase Enzyme | rs700518AA | No significant association detected/Increased upon pre-existing endometriosis | Chinese | Wang et al., 2014 [102] |
FCRL3 | Â | rs7528684 | Unreported/ Increased upon pre-existing endometriosis | Han Chinese | Zhang et al., 2015 [103] |
IL-16 Interleukin 16 | Cytokine | rs4778889 T/C polymorphism | Increased/ Unreported | Chinese | Gan et al., 2010 [104] |
FSHR Follicle Stimulating Hormone Receptor | Hormone receptor | SNP: 680Ser/Ser and 680Ser/Asn | Decreased/Unreported | Taiwanese Chinese | Wang et al., 2011 [105] |
XRCC4 X-ray repair cross-complementing group 4 | DNA repair gene | codon 247*A | Increased/Unreported | Taiwanese Chinese | Hsieh et al.,2008 [106] |
promoter-1394*T | Increased/Unreported | ||||
Intron 3 I/D polymorphism | No significant association detected/ Unreported | ||||
FOXP3 | Transcription factor | rs2280883 | No significant association detected/Unreported | Han Chinese | Wu et al., 2013 [107] |
rs3761548 | |||||
rs3761549 |