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Table 1 Genetic Mutations and Polymorphisms and their impact on the risk of Endometriosis and Infertility in Chinese women

From: A review of the risk factors, genetics and treatment of endometriosis in Chinese women: a comparative update

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

Chen et al., 2015 [9]; Zhu et al., 2014 [89]

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

Chang et al., 2002 [96]; Jia et al., 2012 [97]

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

 

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