Ribeiro Júnior et al. 2009RIBEIRO JÚNIOR CL, ARRUDA JT, SILVA CT & MOURA KK. 2009. Analysis of p53 codon 72 gene polymorphism in Brazilian patients with endometriosis. Genet Mol Res 8: 494-499.
|
Brazil |
19/19 |
PCR |
TP53 |
rs1042522 |
Pro 0.42/0.23 |
Unrealized |
p= 1.0 |
05 |
Chang et al. 2011CHANG CY, CHANG HW, CHEN CM, LIN CY, CHEN CP, LAI CH, LIN WY, LIU HP, SHEU JJ & TSAI FJ. 2011. MUC4 gene polymorphisms associate with endometriosis development and endometriosis-related infertility. BMC Med 9: 19.
|
Taiwan |
150/140 |
Allelic discrimination |
MUC4 |
rs882605 |
T 0.22/0.28 |
0.07/0.62 |
p= 0.04 |
06 |
|
|
|
|
|
rs1104760 |
T 0.80/0.76 |
0.09/0.94 |
p= 0.30 |
|
|
|
|
|
|
s2246901 |
T 0.78/0.75 |
0.15/0.96 |
p= 0.56 |
|
|
|
|
|
|
rs2258447 |
G 0.79/0.77 |
0.07/0.37 |
p= 0.70 |
|
|
|
|
|
|
rs2291652 |
C 0.26/0.30 |
0.26/0.92 |
p= 0.52 |
|
|
|
|
|
|
rs2688513 |
T 0.78/0.77 |
0.09/0.62 |
p= 0.66 |
|
Lamp et al. 2011LAMP M, PETERS M, REINMAA E, HALLER-KIKKATALO K, KAART T, KADASTIK U, KARRO H, METSPALU A & SALUMETS A. 2011. Polymorphisms in ESR1, ESR2 and HSD17B1 genes are associated with fertility status in endometriosis. Gynecol Endocrinol 27: 425-433.
|
Estonia |
199/150 |
PCR PCR–RFLP |
ESR1 |
rs2234693 |
C 0.45/0.51 |
>0.05/>0.05 |
p= 0.21 |
08 |
|
|
|
|
|
(TA)n |
L 0.39/0.48 |
>0.05/>0.05 |
p<0.05 |
|
|
|
|
|
ESR2 |
(CA)n |
L 0.49/0.36 |
>0.05/>0.05 |
p<0.05 |
|
|
|
|
|
HSD17B1 |
rs605059 |
A 0.50/0.57 |
>0.05/>0.05 |
p<0.05 |
|
|
|
|
|
PGR |
rs10895068 |
A 0.09/0.07 |
>0.05/>0.05 |
p= 0.35 |
|
|
|
|
|
|
Ins/Del Alu |
Del 0.87/0.84 |
>0.05/>0.05 |
p= 0.10 |
|
|
|
|
|
CYP19A1 |
rs10046 |
T 0.60/0.55 |
>0.05/>0.05 |
p= 0.1 |
|
|
|
|
|
|
(TTTA)n |
L 0.41/0.40 |
>0.05/>0.05 |
p= 0.75 |
|
|
|
|
|
|
Ins/Del |
Del 0.41/0.26 |
>0.05/>0.05 |
p= 0.34 |
|
Szczepańska et al. 2011SZCZEPAŃSKA M, MOSTOWSKA A, WIRSTLEIN P, LIANERI M, MARIANOWSKI P, SKRZYPCZAK J & JAGODZIŃSKI PP. 2011. Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility. Eur J Obstet Gynecol Reprod Biol 157: 67-72.
|
Poland |
150/163 |
PCR–RFLP |
CBS |
844ins68 |
ins 0.10/0.06 |
>0.05/>0.05 |
p= 0.05 |
09 |
|
|
|
|
MTHFD1 |
rs2236225 |
T 0.42/0.40 |
>0.05/>0.05 |
p= 0.67 |
|
|
|
|
|
MTHFR |
rs1801133 |
T 0.27/0.32 |
>0.05/>0.05 |
p= 0.11 |
|
|
|
|
|
MTR |
rs1805087 |
G 0.17/0.23 |
>0.05/>0.05 |
p= 0.07 |
|
|
|
|
|
MTRR |
rs1801394 |
G 0.38/0.42 |
>0.05/>0.05 |
p= 0.20 |
|
|
|
|
|
TCN2 |
rs1801198 |
C 0.45/0.46 |
>0.05/>0.05 |
p= 0.72 |
|
|
|
|
|
BHMT |
rs7356530 |
A 0.41/0.40 |
>0.05/>0.05 |
p= 0.63 |
|
|
|
|
|
|
rs3733890 |
A 0.31/0.30 |
>0.05/>0.05 |
p= 0.65 |
|
|
|
|
|
CYP19A1 |
rs10046 |
T 0.60/0.55 |
>0.05/>0.05 |
p= 0.1 |
|
|
|
|
|
|
(TTTA)n |
L 0.41/0.40 |
>0.05/>0.05 |
p= 0.75 |
|
|
|
|
|
|
Ins/Del |
Del 0.41/0.26 |
>0.05/>0.05 |
p= 0.34 |
|
Szczepańska et al. 2011SZCZEPAŃSKA M, MOSTOWSKA A, WIRSTLEIN P, LIANERI M, MARIANOWSKI P, SKRZYPCZAK J & JAGODZIŃSKI PP. 2011. Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility. Eur J Obstet Gynecol Reprod Biol 157: 67-72.
|
Poland |
150/163 |
PCR–RFLP |
CBS |
844ins68 |
ins 0.10/0.06 |
>0.05/>0.05 |
p= 0.05 |
09 |
|
|
|
|
MTHFD1 |
rs2236225 |
T 0.42/0.40 |
>0.05/>0.05 |
p= 0.67 |
|
|
|
|
|
MTHFR |
rs1801133 |
T 0.27/0.32 |
>0.05/>0.05 |
p= 0.11 |
|
|
|
|
|
MTR |
rs1805087 |
G 0.17/0.23 |
>0.05/>0.05 |
p= 0.07 |
|
|
|
|
|
MTRR |
rs1801394 |
G 0.38/0.42 |
>0.05/>0.05 |
p= 0.20 |
|
|
|
|
|
TCN2 |
rs1801198 |
C 0.45/0.46 |
>0.05/>0.05 |
p= 0.72 |
|
|
|
|
|
BHMT |
rs7356530 |
A 0.41/0.40 |
>0.05/>0.05 |
p= 0.63 |
|
|
|
|
|
|
rs3733890 |
A 0.31/0.30 |
>0.05/>0.05 |
p= 0.65 |
|
|
|
|
|
CYP19A1 |
rs10046 |
T 0.60/0.55 |
>0.05/>0.05 |
p= 0.1 |
|
|
|
|
|
BHMT2 |
rs625879 |
T 0,41/0,38 |
>0,05/>0,05 |
p= 0,54 |
|
|
|
|
|
CHDH |
rs893363 |
C 0,35/0,36 |
>0,05/>0,05 |
p= 0,95 |
|
|
|
|
|
|
rs2289205 |
A 0,24/0,30 |
>0,05/>0,05 |
p= 0,26 |
|
|
|
|
|
CHKA |
rs7928739 |
A 0,58/0,58 |
>0,05/>0,05 |
p= 0,77 |
|
|
|
|
|
PCYT1A |
rs712012 |
T 0.36/0.38 |
>0.05/>0.05 |
p= 0.62 |
|
|
|
|
|
|
rs7639752 |
A 0.49/0.46 |
>0.05/>0.05 |
p= 0.47 |
|
|
|
|
|
PEMT |
rs4244593 |
A 0.43/0.46 |
>0.05/>0.05 |
p= 0.46 |
|
|
|
|
|
|
rs4646406 |
A 0.43/0.46 |
>0.05/>0.05 |
p= 0.47 |
|
Chang et al. 2012CHANG CY, CHEN Y, LIN WC, CHEN CM, CHEN CP, LEE SC, SHEU JJ & TSAI FJ. 2012. MUC2 polymorphisms are associated with endometriosis development and infertility: a case-control study. BMC Med Genet 13: 15.
|
Taiwan |
196/195 |
Allelic discrimination |
MUC2 |
rs2856111 |
T 0.53/0.56 |
Unrealized |
p= 0.29 |
05 |
|
|
|
|
|
rs11245936 |
A 0.09/0.06 |
Unrealized |
p= 0.34 |
|
|
|
|
|
|
rs10794288 |
T 0.52/0.60 |
Unrealized |
p= 0.09 |
|
|
|
|
|
|
rs10902088 |
C 0.53/0.62 |
Unrealized |
p= 0.05 |
|
|
|
|
|
|
rs7103978 |
G 0.10/0.06 |
Unrealized |
p= 0.05 |
|
|
|
|
|
|
|
|
Unrealized |
|
|
|
|
|
|
BHMT2 |
rs625879 |
T 0,41/0,38 |
>0,05/>0,05 |
p= 0,54 |
|
|
|
|
|
CHDH |
rs893363 |
C 0,35/0,36 |
>0,05/>0,05 |
p= 0,95 |
|
|
|
|
|
|
rs2289205 |
A 0,24/0,30 |
>0,05/>0,05 |
p= 0,26 |
|
|
|
|
|
CHKA |
rs7928739 |
A 0,58/0,58 |
>0,05/>0,05 |
p= 0,77 |
|
|
|
|
|
PCYT1A |
rs712012 |
T 0.36/0.38 |
>0.05/>0.05 |
p= 0.62 |
|
|
|
|
|
|
rs7639752 |
A 0.49/0.46 |
>0.05/>0.05 |
p= 0.47 |
|
|
|
|
|
PEMT |
rs4244593 |
A 0.43/0.46 |
>0.05/>0.05 |
p= 0.46 |
|
|
|
|
|
|
rs4646406 |
A 0.43/0.46 |
>0.05/>0.05 |
p= 0.47 |
|
Chang et al. 2012CHANG CY, CHEN Y, LIN WC, CHEN CM, CHEN CP, LEE SC, SHEU JJ & TSAI FJ. 2012. MUC2 polymorphisms are associated with endometriosis development and infertility: a case-control study. BMC Med Genet 13: 15.
|
Taiwan |
196/195 |
Allelic discrimination |
MUC2 |
rs2856111 |
T 0.53/0.56 |
Unrealized |
p= 0.29 |
05 |
|
|
|
|
|
rs11245936 |
A 0.09/0.06 |
Unrealized |
p= 0.34 |
|
|
|
|
|
|
rs11245954 |
G 0.07/0.05 |
Unrealized |
Not included |
|
Zhang et al. 2012ZHANG QY, GUAN Q, WANG Y, FENG X, SUN W, KONG FY, WEN J, CUI W, YU Y & CHEN ZY. 2012. BDNF Val66Met polymorphism is associated with Stage III-IV endometriosis and poor in vitro fertilization outcome. Hum Reprod 27: 1668-1675.
|
China |
244/425 |
Fluorescence Resonance Energy Transfer |
BDNF |
Val66Met |
Met 0.46/0.51 |
>0.05/>0.05 |
p= 0.17 |
09 |
Szczepańska et al. 2013aSZCZEPAŃSKA M, WIRSTLEIN P, HOŁYSZ H, SKRZYPCZAK J & JAGODZIŃSKI PP. 2013a. The FCRL3 -169T>C polymorphism and the risk of endometriosis-related infertility in a Polish population. Arch Gynecol Obstet 288: 799-804.
|
Poland |
519/141 |
PCR–RFLP |
FCRL3 |
rs7528684 |
C 0.48/0.59 |
>0.05/>0.05 |
p<0.05 |
09 |
Szczepańska et al. 2013bSZCZEPAŃSKA M, WIRSTLEIN P, SKRZYPCZAK J & JAGODZIŃSKI PP. 2013b. Polymorphic variants of CYP17 and CYP19A and risk of infertility in endometriosis. Acta Obstet Gynecol Scand 92: 1188-1193.
|
Poland |
197/115 |
High-Resolution Melting |
CYP17A1 |
rs743572 |
A 0.41/ Not included |
Unrealized |
p<0.05 |
08 |
|
|
|
|
CYP19A1 |
rs10046 |
T 0.39/ Not included |
Unrealized |
p= 0.79 |
|
Mafra et al. 2015MAFRA F, CATTO M, BIANCO B, BARBOSA CP & CHRISTOFOLINI D. 2015. Association of WNT4 polymorphisms with endometriosis in infertile patients. J Assist Reprod Genet 32: 1359-1364.
|
Brazil |
400/400 |
Allelic discrimination |
WNT4 |
rs2235529 |
A 0.12/0.15 |
0.65/0.18 |
p= 0.09 |
09 |
|
|
|
|
|
rs3820282 |
A 0.12/0.15 |
0.48/0.12 |
p= 0.05 |
|
|
|
|
|
|
rs16826658 |
G 0.35/0.35 |
0.70/0.74 |
p<0.05 |
|
|
|
|
|
|
rs7521902 |
A 0.16/0.19 |
0.72/0.20 |
p= 0.18 |
|
Schmitz et al. 2015SCHMITZ CR, SOUZA CA, GENRO VK, MATTE U, CONTO ED & CUNHA-FILHO JS. 2015. LH (Trp8Arg/Ile15Thr), LHR (insLQ) and FSHR (Asn680Ser) polymorphisms genotypic prevalence in women with endometriosis and infertility. J Assist Reprod Gene 32: 991-997.
|
Brazil |
65/67 |
Sequencing PCR–RFLP |
LH |
Trp8Arg |
0.12/0.16 |
>0.05/>0.05 |
p= 0.51 |
07 |
|
|
|
|
|
Ile15Thr |
0.12/0.16 |
>0.05/>0.05 |
p= 0.51 |
|
|
|
|
|
LHR |
insLQ |
0.10/0.25 |
>0.05/>0.05 |
p= 0.01 |
|
|
|
|
|
|
rs11245954 |
G 0.07/0.05 |
Unrealized |
Not included |
|
Zhang et al. 2012ZHANG QY, GUAN Q, WANG Y, FENG X, SUN W, KONG FY, WEN J, CUI W, YU Y & CHEN ZY. 2012. BDNF Val66Met polymorphism is associated with Stage III-IV endometriosis and poor in vitro fertilization outcome. Hum Reprod 27: 1668-1675.
|
China |
244/425 |
Fluorescence Resonance Energy Transfer |
BDNF |
Val66Met |
Met 0.46/0.51 |
>0.05/>0.05 |
p= 0.17 |
09 |
Szczepańska et al. 2013aSZCZEPAŃSKA M, WIRSTLEIN P, HOŁYSZ H, SKRZYPCZAK J & JAGODZIŃSKI PP. 2013a. The FCRL3 -169T>C polymorphism and the risk of endometriosis-related infertility in a Polish population. Arch Gynecol Obstet 288: 799-804.
|
Poland |
519/141 |
PCR–RFLP |
FCRL3 |
rs7528684 |
C 0.48/0.59 |
>0.05/>0.05 |
p<0.05 |
09 |
Szczepańska et al. 2013bSZCZEPAŃSKA M, WIRSTLEIN P, SKRZYPCZAK J & JAGODZIŃSKI PP. 2013b. Polymorphic variants of CYP17 and CYP19A and risk of infertility in endometriosis. Acta Obstet Gynecol Scand 92: 1188-1193.
|
Poland |
197/115 |
High-Resolution Melting |
CYP17A1 |
rs743572 |
A 0.41/ Not included |
Unrealized |
p<0.05 |
08 |
|
|
|
|
CYP19A1 |
rs10046 |
T 0.39/ Not included |
Unrealized |
p= 0.79 |
|
Mafra et al. 2015MAFRA F, CATTO M, BIANCO B, BARBOSA CP & CHRISTOFOLINI D. 2015. Association of WNT4 polymorphisms with endometriosis in infertile patients. J Assist Reprod Genet 32: 1359-1364.
|
Brazil |
400/400 |
Allelic discrimination |
WNT4 |
rs2235529 |
A 0.12/0.15 |
0.65/0.18 |
p= 0.09 |
09 |
|
|
|
|
|
rs3820282 |
A 0.12/0.15 |
0.48/0.12 |
p= 0.05 |
|
|
|
|
|
|
rs16826658 |
G 0.35/0.35 |
0.70/0.74 |
p<0.05 |
|
|
|
|
|
FSHR |
Asn680Ser |
Not included |
>0.05/>0.05 |
p= 0.78 |
|
Szczepańska et al. 2015SZCZEPAŃSKA M, MOSTOWSKA A, WIRSTLEIN P, SKRZYPCZAK J, MISZTAL M & JAGODZIŃSKI PP. 2015. Polymorphic variants in vitamin D signaling pathway genes and the risk of endometriosis-associated infertility. Mol Med Rep 12: 7109-7115.
|
Poland |
347/154 |
High Resolution Melting PCR–RFLP |
GC |
rs7041 |
T 0.40/0.44 |
>0.05/>0.05 |
p= 0.16 |
09 |
|
|
|
|
|
rs1155563 |
C 0.28/0.32 |
>0.05/>0.05 |
p= 0.31 |
|
|
|
|
|
|
rs2298849 |
C 0.20/0.21 |
>0.05/>0.05 |
p= 0.48 |
|
|
|
|
|
RXRA |
rs10881578 |
G 0.30/0.28 |
>0.05/>0.05 |
p= 0.52 |
|
|
|
|
|
|
rs10776909 |
C 0.20/0.18 |
>0.05/>0.05 |
p= 0.27 |
|
|
|
|
|
|
rs749759 |
G 0.25/0.20 |
>0.05/>0.05 |
p= 0.13 |
|
|
|
|
|
VDR |
rs1544410 |
A 0.35/0.39 |
>0.05/>0.05 |
p= 0.44 |
|
|
|
|
|
|
rs2228570 |
Não consta |
>0.05/>0.05 |
p= 0.12 |
|
Yang et al. 2015YANG CW ET AL. 2015. Genetic variations of MUC17 are associated with endometriosis development and related infertility. BMC Med Genet 16: 60.
|
Taiwan |
191/189 |
Allelic discrimination |
MUC17 |
rs4729645 |
T 0.21/0.17 |
Unrealized |
p= 0.12 |
06 |
|
|
|
|
|
rs10953316 |
G 0.80/0.88 |
Unrealized |
p<0.05 |
|
|
|
|
|
|
rs74974199 |
C 0.13/0.11 |
Unrealized |
p= 0.42 |
|
|
|
|
|
FSHR |
Asn680Ser |
Not included |
>0.05/>0.05 |
p= 0.78 |
|
Szczepańska et al. 2015SZCZEPAŃSKA M, MOSTOWSKA A, WIRSTLEIN P, SKRZYPCZAK J, MISZTAL M & JAGODZIŃSKI PP. 2015. Polymorphic variants in vitamin D signaling pathway genes and the risk of endometriosis-associated infertility. Mol Med Rep 12: 7109-7115.
|
Poland |
347/154 |
High Resolution Melting PCR–RFLP |
GC |
rs7041 |
T 0.40/0.44 |
>0.05/>0.05 |
p= 0.16 |
09 |
|
|
|
|
|
rs1155563 |
C 0.28/0.32 |
>0.05/>0.05 |
p= 0.31 |
|
|
|
|
|
|
rs2298849 |
C 0.20/0.21 |
>0.05/>0.05 |
p= 0.48 |
|
|
|
|
|
RXRA |
rs10881578 |
G 0.30/0.28 |
>0.05/>0.05 |
p= 0.52 |
|
|
|
|
|
|
rs10776909 |
C 0.20/0.18 |
>0.05/>0.05 |
p= 0.27 |
|
|
|
|
|
|
rs749759 |
G 0.25/0.20 |
>0.05/>0.05 |
p= 0.13 |
|
|
|
|
|
VDR |
rs1544410 |
A 0.35/0.39 |
>0.05/>0.05 |
p= 0.44 |
|
|
|
|
|
|
rs2228570 |
Não consta |
>0.05/>0.05 |
p= 0.12 |
|
Yang et al. 2015YANG CW ET AL. 2015. Genetic variations of MUC17 are associated with endometriosis development and related infertility. BMC Med Genet 16: 60.
|
Taiwan |
191/189 |
Allelic discrimination |
MUC17 |
rs4729645 |
T 0.21/0.17 |
Unrealized |
p= 0.12 |
06 |
|
|
|
|
|
rs10953316 |
G 0.80/0.88 |
Unrealized |
p<0.05 |
|
|
|
|
|
|
rs74974199 |
C 0.13/0.11 |
Unrealized |
p= 0.42 |
|
|
|
|
|
FSHR |
Asn680Ser |
Not included |
>0.05/>0.05 |
p= 0.78 |
|
Szczepańska et al. 2015SZCZEPAŃSKA M, MOSTOWSKA A, WIRSTLEIN P, SKRZYPCZAK J, MISZTAL M & JAGODZIŃSKI PP. 2015. Polymorphic variants in vitamin D signaling pathway genes and the risk of endometriosis-associated infertility. Mol Med Rep 12: 7109-7115.
|
Poland |
347/154 |
High Resolution Melting PCR–RFLP |
GC |
rs7041 |
T 0.40/0.44 |
>0.05/>0.05 |
p= 0.16 |
09 |
|
|
|
|
|
rs1155563 |
C 0.28/0.32 |
>0.05/>0.05 |
p= 0.31 |
|
|
|
|
|
|
rs2298849 |
C 0.20/0.21 |
>0.05/>0.05 |
p= 0.48 |
|
|
|
|
|
RXRA |
rs10881578 |
G 0.30/0.28 |
>0.05/>0.05 |
p= 0.52 |
|
|
|
|
|
|
rs4729655 |
C 0.61/0.59 |
Unrealized |
p= 0.55 |
|
|
|
|
|
|
rs4729656 |
A 0.68/0.66 |
Unrealized |
p= 0.66 |
|
Zhang et al. 2015ZHANG H, ZHANG Z, LI G, WANG S, ZHANG S & XIE B. 2015. Association of FCRL3 Genetic Polymorphisms With Endometriosis-Related Infertility Risk: An Independent Study in Han Chinese. Medicine (Baltimore) 94: e1168.
|
China |
220/217 |
PCR–RFLP |
FCRL3 |
rs7528684 |
C 0.41/0.50 |
0.35/0.83 |
p= 0.01 |
09 |
|
|
|
|
|
rs11264799 |
A 0.28/0.30 |
0.37/0.48 |
p= 0.57 |
|
|
|
|
|
|
rs945635 |
G 0.42/0.45 |
0.64/0.73 |
p= 0.30 |
|
|
|
|
|
|
rs3761959 |
A 0.47/0.49 |
0.74/0.83 |
p= 0.65 |
|
Barbosa et al.2016 |
Brazil |
42/52 |
PCR–RFLP |
CYP1A1 |
CYP1A1m1
|
m1 0.14/0.32 |
Unrealized |
p= 0.08 |
04 |
De Conto et al. 2017DE CONTO E, MATTE Ú, BILIBIO JP, GENRO VK, SOUZA CA, LEÃO DP & CUNHA-FILHO JS. 2017. Endometriosis-associated infertility: GDF-9, AMH, and AMHR2 genes polymorphisms. J Assist Reprod Genet 34: 1667-1672.
|
Brazil |
70/74 |
Allelic discrimination |
GDF-9 |
c.398-39C > G |
G 0.15/0.11 |
>0.05/>0.05 |
p= 0.51 |
09 |
|
|
|
|
|
c.447C > T |
T 0.49/0.53 |
>0.05/>0.05 |
p= 0.19 |
|
|
|
|
|
|
c.546G > A |
A 0.13/0.18 |
>0.05/>0.05 |
p= 0.44 |
|
|
|
|
|
AMH |
p.Ile49Ser |
Ser 0.28/0.16 |
>0.05/>0.05 |
p= 0.03 |
|
|
|
|
|
AMHR2 |
-482A > G |
G 0.20/0.16 |
>0.05/>0.05 |
p= 0.68 |
|
|
|
|
|
|
rs4729655 |
C 0.61/0.59 |
Unrealized |
p= 0.55 |
|
|
|
|
|
|
rs4729656 |
A 0.68/0.66 |
Unrealized |
p= 0.66 |
|
Zhang et al. 2015ZHANG H, ZHANG Z, LI G, WANG S, ZHANG S & XIE B. 2015. Association of FCRL3 Genetic Polymorphisms With Endometriosis-Related Infertility Risk: An Independent Study in Han Chinese. Medicine (Baltimore) 94: e1168.
|
China |
220/217 |
PCR–RFLP |
FCRL3 |
rs7528684 |
C 0.41/0.50 |
0.35/0.83 |
p= 0.01 |
09 |
|
|
|
|
|
rs11264799 |
A 0.28/0.30 |
0.37/0.48 |
p= 0.57 |
|
|
|
|
|
|
rs945635 |
G 0.42/0.45 |
0.64/0.73 |
p= 0.30 |
|
|
|
|
|
|
rs3761959 |
A 0.47/0.49 |
0.74/0.83 |
p= 0.65 |
|
Barbosa et al. 2016BARBOSA AM, DE SOUZA SR, FRARE AB, COSTA E SILVA RC, DA COSTA IR, FREITAS E SILVA KS, RIBEIRO JÚNIOR CL, BORDIN BM & MOURA KK. 2016. Association of CYP1A1 (cytochrome P450) MspI polymorphism in women with endometriosis. Genet Mol Res 15(3).
|
Brazil |
42/52 |
PCR–RFLP |
CYP1A1 |
CYP1A1m1
|
m1 0.14/0.32 |
Unrealized |
p= 0.08 |
04 |
De Conto et al. 2017DE CONTO E, MATTE Ú, BILIBIO JP, GENRO VK, SOUZA CA, LEÃO DP & CUNHA-FILHO JS. 2017. Endometriosis-associated infertility: GDF-9, AMH, and AMHR2 genes polymorphisms. J Assist Reprod Genet 34: 1667-1672.
|
Brazil |
70/74 |
Allelic discrimination |
GDF-9 |
c.398-39C > G |
G 0.15/0.11 |
>0.05/>0.05 |
p= 0.51 |
09 |
|
|
|
|
|
c.447C > T |
T 0.49/0.53 |
>0.05/>0.05 |
p= 0.19 |
|
Osiński et al. 2017OSIŃSKI M, MOSTOWSKA A, WIRSTLEIN P, SKRZYPCZAK J, JAGODZIŃSKI PP & SZCZEPAŃSKA M. 2017. Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis. J Assist Reprod Genet 34: 789-794.
|
Poland |
410/290 |
High Resolution MeltingPCR |
HSD17B1 |
rs605059 |
A 0.48/0.52 |
>0.05/>0.05 |
p= 0.19 |
06 |
Osiński et al. 2018aOSIŃSKI M, MOSTOWSKA A, WIRSTLEIN P, WENDER-OŻEGOWSKA E, JAGODZIŃSKI PP & SZCZEPAŃSKA M. 2018a. The assessment of GWAS - identified polymorphisms associated with infertility risk in Polish women with endometriosis. Ginekol Pol 89: 304-310.
|
Poland |
406/315 |
High Resolution Melting |
NPVF/NFE2L3 |
rs12700667 |
A 0.76/0.81 |
0.56/0.82 |
p= 0.04 |
09 |
|
|
|
|
WNT4 |
rs12037376 |
A 0.16/0.18 |
0.73/0.91 |
p= 0.30 |
|
|
|
|
|
WNT4/ZBTB40 |
rs7521902 |
A 0.26/0.27 |
0.87/0.35 |
p= 0.46 |
|
|
|
|
|
GREB1 |
rs13394619 |
A 0.45/0.44 |
0.37/0.98 |
p= 0.62 |
|
|
|
|
|
VEZT/METAP2 |
rs10859871 |
C 0.31/0.31 |
0.72/0.11 |
p= 0.83 |
|
|
|
|
|
CDKN2B/
DMRTA1
|
rs1537377 |
C 0.39/0.41 |
0.74/0.23 |
p= 0.49 |
|
|
|
|
|
ETAA1/C1D |
rs4141819 |
C 0.31/0.35 |
0.99/0.31 |
p= 0.08 |
|
|
|
|
|
RNF144B/ID4 |
rs7739264 |
C 0.46/0.46 |
0.63/0.80 |
p= 0.77 |
|
|
|
|
|
RND3/RBM43 |
rs1519761 |
G 0.42/0.40 |
0.35/0.31 |
p= 0.39 |
|
|
|
|
|
CKAP2L/IL1A |
rs6542095 |
C 0.28/0.27 |
0.21/0.92 |
p= 0.50 |
|
Osiński et al. 2017OSIŃSKI M, MOSTOWSKA A, WIRSTLEIN P, SKRZYPCZAK J, JAGODZIŃSKI PP & SZCZEPAŃSKA M. 2017. Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis. J Assist Reprod Genet 34: 789-794.
|
Poland |
410/290 |
High Resolution MeltingPCR |
HSD17B1 |
rs605059 |
A 0.48/0.52 |
>0.05/>0.05 |
p= 0.19 |
06 |
Osiński et al. 2018aOSIŃSKI M, MOSTOWSKA A, WIRSTLEIN P, WENDER-OŻEGOWSKA E, JAGODZIŃSKI PP & SZCZEPAŃSKA M. 2018a. The assessment of GWAS - identified polymorphisms associated with infertility risk in Polish women with endometriosis. Ginekol Pol 89: 304-310.
|
Poland |
406/315 |
High Resolution Melting |
NPVF/NFE2L3 |
rs12700667 |
A 0.76/0.81 |
0.56/0.82 |
p= 0.04 |
09 |
|
|
|
|
WNT4 |
rs12037376 |
A 0.16/0.18 |
0.73/0.91 |
p= 0.30 |
|
|
|
|
|
WNT4/ZBTB40 |
rs7521902 |
A 0.26/0.27 |
0.87/0.35 |
p= 0.46 |
|
|
|
|
|
GREB1 |
rs13394619 |
A 0.45/0.44 |
0.37/0.98 |
p= 0.62 |
|
|
|
|
|
VEZT/METAP2 |
rs10859871 |
C 0.31/0.31 |
0.72/0.11 |
p= 0.83 |
|
|
|
|
|
CDKN2B/ DMRTA1 |
rs1537377 |
C 0.39/0.41 |
0.74/0.23 |
p= 0.49 |
|
|
|
|
|
ETAA1/C1D |
rs4141819 |
C 0.31/0.35 |
0.99/0.31 |
p= 0.08 |
|
|
|
|
|
RNF144B/ID4 |
rs7739264 |
C 0.46/0.46 |
0.63/0.80 |
p= 0.77 |
|
|
|
|
|
RND3/RBM43 |
rs1519761 |
G 0.42/0.40 |
0.35/0.31 |
p= 0.39 |
|
|
|
|
|
CKAP2L/IL1A |
rs6542095 |
C 0.28/0.27 |
0.21/0.92 |
p= 0.50 |
|
Osiński et al. 2017OSIŃSKI M, MOSTOWSKA A, WIRSTLEIN P, SKRZYPCZAK J, JAGODZIŃSKI PP & SZCZEPAŃSKA M. 2017. Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis. J Assist Reprod Genet 34: 789-794.
|
Poland |
410/290 |
High Resolution MeltingPCR |
HSD17B1 |
rs605059 |
A 0.48/0.52 |
>0.05/>0.05 |
p= 0.19 |
06 |
Osiński et al. 2018aOSIŃSKI M, MOSTOWSKA A, WIRSTLEIN P, WENDER-OŻEGOWSKA E, JAGODZIŃSKI PP & SZCZEPAŃSKA M. 2018a. The assessment of GWAS - identified polymorphisms associated with infertility risk in Polish women with endometriosis. Ginekol Pol 89: 304-310.
|
Poland |
406/315 |
High Resolution Melting |
NPVF/NFE2L3 |
rs12700667 |
A 0.76/0.81 |
0.56/0.82 |
p= 0.04 |
09 |
|
|
|
|
WNT4 |
rs12037376 |
A 0.16/0.18 |
0.73/0.91 |
p= 0.30 |
|
|
|
|
|
WNT4/ZBTB40 |
rs7521902 |
A 0.26/0.27 |
0.87/0.35 |
p= 0.46 |
|
|
|
|
|
GREB1 |
rs13394619 |
A 0.45/0.44 |
0.37/0.98 |
p= 0.62 |
|
|
|
|
|
VEZT/METAP2 |
rs10859871 |
C 0.31/0.31 |
0.72/0.11 |
p= 0.83 |
|
|
|
|
|
CDKN2B/
DMRTA1
|
rs1537377 |
C 0.39/0.41 |
0.74/0.23 |
p= 0.49 |
|
|
|
|
|
ETAA1/C1D |
rs4141819 |
C 0.31/0.35 |
0.99/0.31 |
p= 0.08 |
|
|
|
|
|
RNF144B/ID4 |
rs7739264 |
C 0.46/0.46 |
0.63/0.80 |
p= 0.77 |
|
Santos et al. 2018SANTOS TR, SILVA KSF, SILVA RCPC, MOURA KKVO, GUILLO LA, JÚNIOR CL & COSTA LR. 2018. Infertility caused by an association between Arg72Pro polymorphism of the p53 gene and Glu298Asp of the eNOS gene in patients with endometriosis. Genet Mol Res 17: GMR1804.
|
Brazil |
18/17 |
Amplification Refractory Mutation System- Polymerase Chain ReactionPCR |
TP53 |
rs1042522 |
Pro Not included |
Unrealized |
Not included |
06 |
|
|
|
|
eNOS |
rs1799983 |
Asp Not included |
Unrealized |
Not included |
|
Cardoso et al. 2019CARDOSO JV, MACHADO DE, DA SILVA MC, BERARDO PT, FERRARI R, ABRÃO MS & PERINI JA. 2019. Matrix metalloproteinases 3 polymorphism increases the risk of developing advanced endometriosis and infertility: A case-control study. Eur J Obstet Gynecol Reprod Biol X 3: 100041.
|
Brazil |
217/283 |
|
MMP3 |
rs679620 |
A 0.34/0.40 |
>0.05/>0.05 |
p= 0.09 |
09 |
Christofolini et al. 2019CHRISTOFOLINI DM, CAVALHEIRO CM, TELES JS, LERNER TG, BRANDES A, BIANCO B & BARBOSA CP. 2011a. Promoter -817C>T variant of B lymphocyte stimulator gene (BLyS) and susceptibility to endometriosis-related infertility and idiopathic infertility in Brazilian population. Scand J Immunol 74: 628-631.
|
Brazil |
650/394 |
Allelic discrimination |
TAC3 |
rs733629 |
C 0.09/0.08 |
0.73/1 |
p= 0.57 |
09 |
|
|
|
|
KAZN |
rs10928050 |
G 0.16/0.20 |
0.14/1 |
p<0.05 |
|
|
|
|
Allelic discrimination |
LAMA5 |
rs2427284 |
A 0.07/0.05 |
<0.05/<0.05 |
p= 0.1 |
|
Tanase et al. 2020TANASE A, NEMESCU D, POPESCU R, TOMA BF, MATASARIU RD & ONOFRIESCU M. 2020. FSH receptor and FSH beta chain polymorphism involvement in infertility and endometriosis disease. Acta Endocrinol (Buchar) 16: 142-147.
|
Romania |
34/44 |
|
FSHR |
rs1394205 |
A 0.23/0.22 |
Unrealized |
p= 0.87 |
05 |
|
|
|
|
FSHβ |
rs10835638 |
T 0.09/0.07 |
Unrealized |
p= 0.63 |
|
Santos et al. 2018SANTOS TR, SILVA KSF, SILVA RCPC, MOURA KKVO, GUILLO LA, JÚNIOR CL & COSTA LR. 2018. Infertility caused by an association between Arg72Pro polymorphism of the p53 gene and Glu298Asp of the eNOS gene in patients with endometriosis. Genet Mol Res 17: GMR1804.
|
Brazil |
18/17 |
Amplification Refractory Mutation System- Polymerase Chain ReactionPCR |
TP53 |
rs1042522 |
Pro Not included |
Unrealized |
Not included |
06 |
|
|
|
|
eNOS |
rs1799983 |
Asp Not included |
Unrealized |
Not included |
|
Cardoso et al. 2019CARDOSO JV, MACHADO DE, DA SILVA MC, BERARDO PT, FERRARI R, ABRÃO MS & PERINI JA. 2019. Matrix metalloproteinases 3 polymorphism increases the risk of developing advanced endometriosis and infertility: A case-control study. Eur J Obstet Gynecol Reprod Biol X 3: 100041.
|
Brazil |
217/283 |
|
MMP3 |
rs679620 |
A 0.34/0.40 |
>0.05/>0.05 |
p= 0.09 |
09 |
Christofolini et al. 2019CHRISTOFOLINI DM, VILARINO FL, MAFRA FA, ANDRÉ GM, BIANCO B & BARBOSA CP. 2011b. Combination of polymorphisms in luteinizing hormone β, estrogen receptor β and progesterone receptor and susceptibility to infertility and endometriosis. Eur J Obstet Gynecol Reprod Biol 158: 260-264.
|
Brazil |
650/394 |
Allelic discrimination |
TAC3 |
rs733629 |
C 0.09/0.08 |
0.73/1 |
p= 0.57 |
09 |
|
|
|
|
KAZN |
rs10928050 |
G 0.16/0.20 |
0.14/1 |
p<0.05 |
|
|
|
|
Allelic discrimination |
LAMA5 |
rs2427284 |
A 0.07/0.05 |
<0.05/<0.05 |
p= 0.1 |
|
Tanase et al. 2020TANASE A, NEMESCU D, POPESCU R, TOMA BF, MATASARIU RD & ONOFRIESCU M. 2020. FSH receptor and FSH beta chain polymorphism involvement in infertility and endometriosis disease. Acta Endocrinol (Buchar) 16: 142-147.
|
Romania |
34/44 |
|
FSHR |
rs1394205 |
A 0.23/0.22 |
Unrealized |
p= 0.87 |
05 |
|
|
|
|
FSHβ |
rs10835638 |
T 0.09/0.07 |
Unrealized |
p= 0.63 |
|
Santos et al. 2018SANTOS TR, SILVA KSF, SILVA RCPC, MOURA KKVO, GUILLO LA, JÚNIOR CL & COSTA LR. 2018. Infertility caused by an association between Arg72Pro polymorphism of the p53 gene and Glu298Asp of the eNOS gene in patients with endometriosis. Genet Mol Res 17: GMR1804.
|
Brazil |
18/17 |
Amplification Refractory Mutation System- Polymerase Chain ReactionPCR |
TP53 |
rs1042522 |
Pro Not included |
Unrealized |
Not included |
06 |
|
|
|
|
eNOS |
rs1799983 |
Asp Not included |
Unrealized |
Not included |
|
Cardoso et al. 2019CARDOSO JV, MACHADO DE, DA SILVA MC, BERARDO PT, FERRARI R, ABRÃO MS & PERINI JA. 2019. Matrix metalloproteinases 3 polymorphism increases the risk of developing advanced endometriosis and infertility: A case-control study. Eur J Obstet Gynecol Reprod Biol X 3: 100041.
|
Brazil |
217/283 |
|
MMP3 |
rs679620 |
A 0.34/0.40 |
>0.05/>0.05 |
p= 0.09 |
09 |
Christofolini et al. 2019 |
Brazil |
650/394 |
Allelic discrimination |
TAC3 |
rs733629 |
C 0.09/0.08 |
0.73/1 |
p= 0.57 |
09 |
|
|
|
|
KAZN |
rs10928050 |
G 0.16/0.20 |
0.14/1 |
p<0.05 |
|
|
|
|
Allelic discrimination |
LAMA5 |
rs2427284 |
A 0.07/0.05 |
<0.05/<0.05 |
p= 0.1 |
|
Tanase et al. 2020TANASE A, NEMESCU D, POPESCU R, TOMA BF, MATASARIU RD & ONOFRIESCU M. 2020. FSH receptor and FSH beta chain polymorphism involvement in infertility and endometriosis disease. Acta Endocrinol (Buchar) 16: 142-147.
|
Romania |
34/44 |
|
FSHR |
rs1394205 |
A 0.23/0.22 |
Unrealized |
p= 0.87 |
05 |
|
|
|
|
FSHβ |
rs10835638 |
T 0.09/0.07 |
Unrealized |
p= 0.63 |
|
Santos et al. 2018SANTOS TR, SILVA KSF, SILVA RCPC, MOURA KKVO, GUILLO LA, JÚNIOR CL & COSTA LR. 2018. Infertility caused by an association between Arg72Pro polymorphism of the p53 gene and Glu298Asp of the eNOS gene in patients with endometriosis. Genet Mol Res 17: GMR1804.
|
Brazil |
18/17 |
Amplification Refractory Mutation System- Polymerase Chain ReactionPCR |
TP53 |
rs1042522 |
Pro Not included |
Unrealized |
Not included |
06 |
|
|
|
|
eNOS |
rs1799983 |
Asp Not included |
Unrealized |
Not included |
|
Cardoso et al. 2019CARDOSO JV, MACHADO DE, DA SILVA MC, BERARDO PT, FERRARI R, ABRÃO MS & PERINI JA. 2019. Matrix metalloproteinases 3 polymorphism increases the risk of developing advanced endometriosis and infertility: A case-control study. Eur J Obstet Gynecol Reprod Biol X 3: 100041.
|
Brazil |
217/283 |
|
MMP3 |
rs679620 |
A 0.34/0.40 |
>0.05/>0.05 |
p= 0.09 |
09 |
Christofolini et al. 2019 |
Brazil |
650/394 |
Allelic discrimination |
TAC3 |
rs733629 |
C 0.09/0.08 |
0.73/1 |
p= 0.57 |
09 |
|
|
|
|
KAZN |
rs10928050 |
G 0.16/0.20 |
0.14/1 |
p<0.05 |
|