Table 1.

Summary table of the included studies according to sex-hormone genes.

Gene	Polymorphism	Allele	Association	Disease	Ref. citation	Cases/Controls	Ethnicity	Country	Analysis	Cases Surgery Yes/No	Control Surgery Yes/No	ASRM	IHS
ESR1	rs2234693, Pvull	T > C	Yes	Endometriosis	Hsieh et al. 48	112/110	Asian	Taiwan	PCR-RFLP	Yes	No	Yes
ESR1	rs2234693, Pvull	T > C	Yes	Endometriosis	Lamp et al. 49	150/199	Caucasian	Estonia	PCR-RFLP	Yes	No	Yes
ESR1	rs2234693, Pvull	C > T	Yes	Endometriosis	Paskulin et al. 50	98/115	Caucasian	Brazil	Taqman assay	Yes	Yes	Yes
ESR1	rs2234693, Pvull	*	Yes	Endometriosis	Kitawaki et al. 51	109/179	Asian	Japan	PCR-RFLP	Yes	No	Yes
ESR1	rs2234693, Pvull	T > C	No	Endometriosis	Govindan et al. 52	110/115	Asian	India	PCR-RFLP	Yes	No	Yes
ESR1	rs2234693, Pvull	T > C	No	Endometriosis	Renner et al. 53	98/98	Caucasian	Germany	PCR-RFLP	Yes	No	Yes
ESR1	rs2234693, Pvull	*	No	Endometriosis	Xie et al. 54	214/160	Asian	China	PCR-RFLP	Yes	No	No
ESR1	rs2234693, Pvull	*	Yes	Migraine	An et al. 55	494/533	Asian	China	MALDI-TOF MS				Yes
ESR1	rs2234693, Pvull	C > T	Yes	Migraine	Ghosh et al. 56	334/200	Asian	India	PCR-SSCP				Yes
ESR1	rs2234693, Pvull	T > C	Yes	Migraine	Joshi et al. 57	217/217	Asian	India	PCR-RFLP				Yes
ESR1	rs2234693, Pvull	C > T	No	Migraine	Colson et al. 58	240/240	Caucasian	Australia	PCR-RFLP				Yes
ESR1	rs9340799, Xbal	A > G	Yes	Endometriosis	Hsieh et al. 48	112/110	Asian	Taiwan	PCR-RFLP	Yes	No	Yes
ESR1	rs9340799, Xbal	A > G	Yes	Endometriosis	Xie et al. 54	214/160	Asian	China	PCR-RFLP	Yes	No	No
ESR1	rs9340799, Xbal	A > G	No	Endometriosis	Renner et al. 53	98/98	Caucasian	Germany	PCR-RFLP	Yes	No	Yes
ESR1	rs9340799, Xbal	A > G	No	Endometriosis	Paskulin et al. 50	98/115	Caucasian	Brazil	Taqman assay	Yes	Yes	Yes
ESR1	rs9340799, Xbal	*	Yes	Migraine	An et al. 55	494/533	Asian	China	MALDI-TOF MS				Yes
ESR1	rs9340799, Xbal	*	No	Migraine	Ghosh et al. 56	334/200	Asian	India	PCR-SSCP				Yes
ESR1	TA repeat	(TA)n	Yes	Endometriosis	Kim et al. 59	180/165	Asian	Korea	PCR-RFLP	Yes	Yes	Yes
ESR1	TA repeat	(TA)n	Yes	Endometriosis	Hsieh et al. 60	119/108	Asian	Taiwan	PCR-RFLP	Yes	Yes	Yes
ESR1	TA repeat	(TA)n	Yes	Endometriosis	Lamp et al. 49	150/199	Caucasian	Estonia	PCR-RFLP	Yes	No	Yes
ESR1	rs2228480	*	No	Endometriosis	Wu et al. 61	121/171	Asian	Taiwan	Taqman assay	Yes	No	Yes
ESR1	rs2228480	G > A	Yes	Migraine	Colson et al. 62	224/224	Caucasian	Australia	PCR				Yes
ESR1	rs2228480	G > A	Yes	Migraine	An et al. 55	494/533	Asian	China	MALDI-TOF MS				Yes
ESR1	rs2228480	G > A	No	Migraine	Coşkun et al. 63	142/141	Asian	Turkey	PCR				Yes
ESR1	rs2228480	G > A	No	Migraine	Kaunisto et al. 64	898/900	Caucasian	Finland	Multiplex-PCR				Yes
ESR1	rs2228480	G > A	No	Migraine	Oterino et al. 65	599/232	Caucasian	Spain	Real-Time PCR assay				Yes
ESR1	rs2228480	G > A	No	Migraine	Corominas et al. 66	210/210	Caucasian	Spain	PCR-RFLP				Yes
ESR1	rs2228480	G > A	No	Migraine	Ghosh et al. 56	334/200	Asian	India	PCR-SSCP				Yes
ESR1	rs2228480	G > A	No	Migraine	Rodriguez-Acevedo et al. 67	282/155	Caucasian	Australia	PCR-RFLP				Yes
ESR1	rs1801132	*	No	Endometriosis	Wu et al. 61	121/171	Asian	Taiwan	Taqman assay	Yes	No	Yes
ESR1	rs1801132	C > G	Yes	Migraine	Kaunisto et al. 64	898/900	Caucasian	Finland	Multiplex-PCR				Yes
ESR1	rs1801132	G > C	Yes	Migraine	Oterino et al. 65	599/232	Caucasian	Spain	Real-Time PCR assay				Yes
ESR1	rs1801132	G > C	Yes	Migraine	Oterino et al. 68	356/374	Caucasian	Spain	Real-Time PCR assay				Yes
ESR1	rs1801132	*	No	Migraine	Coşkun et al. 63	142/141	Asian	Turkey	PCR				Yes
ESR1	rs1801132	C > G	No	Migraine	Colson et al. 58	240/240	Caucasian	Australia	PCR-RFLP				Yes
ESR1	rs1801132	*	No	Migraine	Corominas et al. 66	210/210	Caucasian	Spain	PCR-RFLP				Yes
ESR1	rs1801132	*	No	Migraine	Ghosh et al. 56	334/200	Asian	India	PCR-SSCP				Yes
ESR1	rs1801132	C > G	No	Migraine	Joshi et al. 57	217/217	Asian	India	PCR-RFLP				Yes
ESR1	rs1801132	*	No	Migraine	Rodriguez-Acevedo et al. 67	282/155	Caucasian	Australia	PCR-RFLP				Yes
ESR1	rs1801132	*	No	Migraine	An et al. 55	494/533	Asian	China	MALDI-TOF MS				Yes
ESR1	rs3798573	A > G	Yes	Endometriosis	Wang W et al. 69	312/357	Asian	China	PCR-RFLP	Yes	Yes	Yes
ESR1	rs2077647	*	No	Endometriosis	Wu et al. 61	121/171	Asian	Taiwan	Taqman assay	Yes	No	Yes
ESR1	rs3853250	*	No	Endometriosis	Trabert et al. 40	256/567	Caucasian	USA	PCR-RFLP	Yes	No	Yes
ESR1	rs3853251	*	No	Endometriosis	Trabert et al. 40	256/567	Caucasian	USA	PCR-RFLP	Yes	No	Yes
ESR1	rs1159327	A > G	No	Endometriosis	Wang W et al. 69	312/357	Asian	China	PCR-RFLP	Yes	Yes	Yes
ESR1	rs3020348	A > C	No	Endometriosis	Wang W et al. 69	312/357	Asian	China	PCR-RFLP	Yes	Yes	Yes
ESR1	rs1884049	*	No	Endometriosis	Matsuzaka et al. 70	100/143	Asian	Japan	PCR	Yes	Yes	Yes
ESR1	rs1884053	*	No	Endometriosis	Matsuzaka et al. 70	100/143	Asian	Japan	PCR	Yes	Yes	Yes
ESR1	rs1884054	*	No	Endometriosis	Matsuzaka et al. 70	100/143	Asian	Japan	PCR	Yes	Yes	Yes
ESR1	Intron 1 HaeIII	GGCC > GGCT	No	Endometriosis	Sato et al. 71	105/125	Caucasian	Brazil	PCR-RFLP	Yes	No	Yes
ESR1	Exon 1 MspI	CCGG > CTGG	No	Endometriosis	Sato et al. 71	105/125	Caucasian	Brazil	PCR-RFLP	Yes	No	Yes
ESR1	IVS1 –401 > C	*	No	Endometriosis	Huber et al. 72	32/790	Caucasian	Austria	Multiplex-PCR	Yes	No	Yes
ESR1	rs6557170	G > A	Yes	Migraine	Kaunisto et al. 64	898/900	Caucasian	Finland	Multiplex-PCR				Yes
ESR1	rs6557171	C > T	Yes	Migraine	Kaunisto et al. 64	898/900	Caucasian	Finland	Multiplex-PCR				Yes
ESR1	rs2347867	A > G	Yes	Migraine	Kaunisto et al. 64	898/900	Caucasian	Finland	Multiplex-PCR				Yes
ESR1	rs4870062	T > G	Yes	Migraine	Kaunisto et al. 64	898/900	Caucasian	Finland	Multiplex-PCR				Yes
ESR1	rs726281	*	Yes	Migraine	Coşkun et al. 63	142/141	Asian	Turkey	PCR				Yes
ESR1	rs2295193	*	No	Migraine	Coşkun et al. 63	142/141	Asian	Turkey	PCR				Yes
ESR1	rs3798577	*	No	Migraine	Coşkun et al. 63	142/141	Asian	Turkey	PCR				Yes
ESR1	rs2077647	*	No	Migraine	Corominas et al. 66	210/210	Caucasian	Spain	PCR-RFLP				Yes
ESR2	rs4986938, AluI	G > A	Yes	Endometriosis	Bianco et al. 73	108/210	Caucasian	Brazil	PCR-RFLP	Yes	Yes	Yes
ESR2	rs4986938, AluI	G > A	Yes	Endometriosis	Szaflik et al. 74	100/100	Caucasian	Poland	Sanger sequencing	Yes	No	Yes
ESR2	rs4986938, AluI	*	No	Endometriosis	Wu et al. 61	121/171	Asian	Taiwan	Taqman assay	Yes	No	Yes
ESR2	rs4986938, AluI	G > A	No	Endometriosis	Lee et al. 75	239/287	Asian	Korea	PCR-RFLP	Yes	Yes	Yes
ESR2	rs4986938, AluI	*	Yes	Migraine	Rodriguez-Acevedo et al. 67	282/155	Caucasian	Australia	Taqman assay				Yes
ESR2	rs4986938, AluI	*	Yes	Migraine	Oterino et al. 68	356/374	Caucasian	Spain	Real-Time PCR assay				Yes
ESR2	rs4986938, AluI	*	No	Migraine	Coşkun et al. 63	142/141	Asian	Turkey	PCR				Yes
ESR2	rs4986938, AluI	*	No	Migraine	An et al. 55	494/533	Asian	China	MALDI-TOF MS				Yes
ESR2	rs1256049	*	Yes	Endometriosis	Silva et al. 76	54/46	Caucasian	Brazil	PCR	Yes	No	Yes
ESR2	rs1256049	*	No	Endometriosis	Wu et al. 61	121/171	Asian	Taiwan	Taqman assay	Yes	No	Yes
ESR2	rs1256049	*	No	Migraine	An et al. 55	494/533	Asian	China	MALDI-TOF MS			Yes
ESR2	rs1256049	*	No	Migraine	Ghosh et al. 56	334/200	Asian	India	PCR-SSCP				Yes
ESR2	rs17179740	*	Yes	Endometriosis	Smolarz et al. 77	200/200	Caucasian	Poland	HRM	Yes	No	Yes
ESR2	rs17179740	A > G	No	Endometriosis	Wang W et al. 69	312/357	Asian	China	PCR-RFLP	Yes	Yes	Yes
ESR2	rs928554, A > G	A > G	Yes	Endometriosis	Szaflik et al. 74	100/100	Caucasian	Poland	Sanger sequencing	Yes	No	Yes
ESR2	rs944052	*	Yes	Endometriosis	Trabert et al. 40	256/567	Caucasian	USA	PCR-RFLP	Yes	No	Yes
ESR2	CA repeat	(CA)n	Yes	Endometriosis	Lamp et al. 49	150/199	Caucasian	Estonia	PCR-RFLP	Yes	No	Yes
ESR2	rs1255998	*	No	Migraine	Coşkun et al. 63	142/141	Asian	Turkey	PCR				Yes
ESR2	rs1271572	*	No	Migraine	Ghosh et al. 56	334/200	Asian	India	PCR-SSCP				Yes
PGR	PROGINS Alu ins	*	Yes	Endometriosis	Costa et al. 78	54/45	Caucasian	Brazil	PCR-RFLP	Yes	No	No
PGR	PROGINS Alu ins	*	Yes	Endometriosis	De Carvalho et al. 79	121/281	Caucasian	Brazil	PCR-RFLP	Yes	No	Yes
PGR	PROGINS Alu ins	*	Yes	Endometriosis	Lattuada et al. 80	131/127	Caucasian	Italy	PCR-RFLP	Yes	Yes	Yes
PGR	PROGINS Alu ins	*	Yes	Endometriosis	Wieser et al.39,81	95/107	Caucasian	Austria	PCR-RFLP	Yes	Yes	Yes
PGR	PROGINS Alu ins	*	No	Endometriosis	Lamp et al. 49	150/199	Caucasian	Estonia	PCR-RFLP	Yes	No	Yes
PGR	PROGINS Alu ins	*	No	Endometriosis	Treloar et al.82,83	980/2940	Caucasian	Australia	PCR-RFLP	Yes	No	Yes
PGR	PROGINS Alu ins	*	No	Endometriosis	Gimenes et al. 84	148/179	Caucasian	Brazil	PCR-RFLP	Yes	Yes	Yes
PGR	PROGINS Alu ins	*	No	Endometriosis	Govindan et al. 85	100/108	Asian	India	PCR	Yes	No	No
PGR	PROGINS Alu ins	*	Yes	Migraine	Colson et al. 86	300/300	Caucasian	Australia	PCR				Yes
PGR	PROGINS Alu ins	*	No	Migraine	Corominas et al. 66	210/210	Caucasian	Spain	PCR				Yes
PGR	PROGINS Alu ins	*	No	Migraine	Rodriguez-Acevedo et al. 67	282/155	Caucasian	Australia	PCR				Yes
PGR	rs1042838	*	No	Endometriosis	Trabert et al. 40	256/567	Caucasian	USA	PCR-RFLP	Yes	No	Yes
PGR	rs1042838	*	No	Endometriosis	Wu et al. 61	121/171	Asian	Taiwan	Taqman assay	Yes	No	Yes
PGR	rs1042838	G > T	No	Endometriosis	Treloar et al.82,83	980/2940	Caucasian	Australia	PCR-RFLP	Yes	No	Yes
PGR	rs1042838	*	No	Endometriosis	Van Kaam et al. 87	72/102	Caucasian	Netherlands	PCR-RFLP	Yes	Yes	Yes
PGR	rs1042838	*	No	Migraine	Joshi et al. 57	217/217	Asian	India	PCR				Yes
PGR	rs1042838	G > T	No	Migraine	Palmirotta et al. 88	380/185	Caucasian	Italy	Sanger sequencing				Yes
PGR	rs10895068	G > A	No	Endometriosis	Van Kaam et al. 87	72/102	Caucasian	Netherlands	PCR-RFLP	Yes	Yes	Yes
PGR	rs10895068	G > A	No	Endometriosis	Gentilini et al. 89	199/300	Caucasian	Italy	PCR-RFLP	Yes	Yes	Yes
PGR	rs10895068	G > A	No	Endometriosis	Treloar et al.82,83	980/2940	Caucasian	Australia	PCR-RFLP	Yes	No	Yes
PGR	rs10895068	G > A	No	Endometriosis	Lamp et al. 49	150/199	Caucasian	Estonia	PCR-RFLP	Yes	No	Yes
PGR	rs500760	A > G	Yes	Endometriosis	Treloar et al.82,83	980/2940	Caucasian	Australia	PCR-RFLP	Yes	No	Yes
PGR	rs1042839	C > T	No	Endometriosis	Treloar et al.82,83	980/2940	Caucasian	Australia	PCR-RFLP	Yes	No	Yes
PGR	rs2008112	G > A	No	Endometriosis	Treloar et al.82,83	980/2940	Caucasian	Australia	PCR-RFLP	Yes	No	Yes
PGR	rs2020880	C > T	No	Endometriosis	Treloar et al.82,83	980/2940	Caucasian	Australia	PCR-RFLP	Yes	No	Yes
PGR	rs3740754	G > C	No	Endometriosis	Treloar et al.82,83	980/2940	Caucasian	Australia	PCR-RFLP	Yes	No	Yes
PGR	rs518162	G > A	No	Endometriosis	Treloar et al.82,83	980/2940	Caucasian	Australia	PCR-RFLP	Yes	No	Yes
AR	CAG repeat	(CAG)n	Yes	Endometriosis	Hsieh et al. 90	110/99	Asian	Taiwan	PCR	Yes	No	No
AR	CAG repeat	(CAG)n	Yes	Endometriosis	Shaik et al. 91	90/101	Asian	India	PCR	Yes	No	No
AR	CAG repeat	(CAG)n	Yes	Endometriosis	Shin et al. 92	421/349	Asian	Korea	PCR	Yes	Yes	Yes
AR	CAG repeat	(CAG)n	No	Endometriosis	Lattuada et al. 93	105/92	Caucasian	Italy	PCR	Yes	Yes	Yes
AR	CAG repeat	(CAG)n	No	Endometriosis	Tong et al. 94	24/114	Asian	China	PCR	Yes	No	Yes
AR	CAG repeat	(CAG)n	No	Migraine	Colson et al. 86	275/275	Caucasian	Australia	PCR				Yes
FSHR	rs6165	*	Yes	Endometriosis	Kerimoglu et al. 95	100/100	Asian	Turkey	PCR-RFLP	Yes	Yes	Yes
FSHR	rs6165	*	Yes	Endometriosis	Liaqat et al. 96	156/208	Asian	Pakistan	PCR	Yes	No	No
FSHR	rs6165	G > A	No	Endometriosis	Andre et al. 97	352/510	Caucasian	Brazil	Taqman assay	Yes	Yes	Yes
FSHR	rs6165	A > G	No	Endometriosis	Wang HS et al. 98	300/337	Asian	Taiwan	MALDI-TOF MS	Yes	No	Yes
FSHR	rs6166	*	Yes	Endometriosis	Kerimoglu et al. 95	100/100	Asian	Turkey	PCR-RFLP	Yes	Yes	Yes
FSHR	rs6166	*	No	Endometriosis	Liaqat et al. 96	156/208	Asian	Pakistan	PCR	Yes	No	No
FSHR	rs6166	A > G	No	Endometriosis	Andre et al. 97	352/510	Caucasian	Brazil	Taqman assay	Yes	Yes	Yes
FSHR	rs6166	A > G	No	Endometriosis	Wang HS et al. 98	300/337	Asian	Taiwan	MALDI-TOF MS	Yes	No	Yes
FSHR	rs6166	A > G	No	Endometriosis	Schmitz et al. 99	67/65	Caucasian	Brazil	PCR-RFLP	Yes	Yes	Yes
FSHR	rs6166	*	Yes	Migraine	Oterino et al. 68	356/374	Caucasian	Spain	Real-Time PCR assay				Yes
FSHR	rs6166	*	No	Migraine	Rodriguez-Acevedo et al. 67	282/155	Caucasian	Australia	MALDI-TOF MS				Yes
FSHR	rs6166	*	No	Migraine	Coşkun et al. 63	142/141	Asian	Turkey	PCR				Yes
FSHB	rs11031006	*	Yes	Endometriosis	Angioni et al. 100	72/41	Caucasian	Italy	Sanger sequencing	Yes	Yes	Yes
FSHB	rs11031006	*	Yes	Endometriosis	Matalliotakis et al. 101	166/150	Caucasian	Greece	Taqman assay	Yes	No	Yes
SHBG	rs6259	*	No	Migraine	Coşkun et al. 63	142/141	Asian	Turkey	PCR				Yes
NRIP1	rs2229741	G > A	No	Endometriosis	Caballero et al. 102	59/141	Caucasian	Spain	Real-Time PCR assay	Yes	No	Yes
NRIP1	rs2229741	*	Yes	Migraine	Rodriguez-Acevedo et al. 67	282/155	Caucasian	Australia	MALDI-TOF MS				Yes
NRIP1	rs2229741	*	No	Migraine	Coşkun et al. 63	142/141	Asian	Turkey	PCR				Yes
NRIP1	rs2229741	*	No	Migraine	Oterino et al. 68	356/374	Caucasian	Spain	Real-Time PCR assay				Yes
NRIP1	rs2229742	C > G	Yes	Endometriosis	Caballero et al. 102	59/141	Caucasian	Spain	Real-Time PCR assay	Yes	No	Yes
NRIP1	rs2506142	*	Yes	Migraine	Pollock et al. 103	235/140	Caucasian	Australia	PCR-RFLP				Yes
COMT	rs4680	*	No	Endometriosis	Christofolini et al.44,104	198/168	Caucasian	Brazil	Taqman assay	Yes	Yes	Yes
COMT	rs4680	*	No	Endometriosis	Trabert et al. 40	255/567	Caucasian	USA	PCR-RFLP	Yes	No	Yes
COMT	rs4680	G > A	No	Endometriosis	Wang HS et al. 98	300/337	Asian	Taiwan	MALDI-TOF MS	Yes	No	Yes
COMT	rs4680	G > A	No	Endometriosis	Wieser et al.39,81	91/92	Caucasian	Australia	PCR-RFLP	Yes	Yes	Yes
COMT	rs4680	G > A	No	Endometriosis	Juo et al. 105	105/312	Asian	China	PCR-RFLP	Yes	No	No
COMT	rs4680	G > A	No	Endometriosis	Huber et al. 72	32/790	Caucasian	Austria	Multiplex-PCR	Yes	No	Yes
COMT	rs4680	G > A	Yes	Migraine	Emin Erdal et al. 106	62/64	Asian	Turkey	PCR-RFLP				Yes
COMT	rs4680	*	Yes	Migraine	Sullivan et al. 107	1740/1132	Caucasian	USA	Illumina sequencing				Yes
COMT	rs4680	*	No	Migraine	De Marchis et al. 108	380/132	Caucasian	Italy	Sanger sequencing				Yes
COMT	rs4680	*	No	Migraine	Todt et al. 109	270/272	Caucasian	Germany	Taqman assay				Yes
COMT	rs4680	G > A	No	Migraine	Sutherland et al. 110	268/140	Caucasian	Australia	PCR-RFLP				Yes
COMT	rs4680	G > A	No	Migraine	Takigawa et al. 111	223/191	Asian	Japan	PCR-RFLP				Yes
COMT	rs4680	G > A	No	Migraine	Hagen et al. 112	982/1468	Caucasian	Norway	PCR				Yes
COMT	rs4680	G > A	No	Migraine	Park et al. 113	97/94	Asian	Korea	PCR				Yes
COMT	rs1544325	*	No	Migraine	Corominas et al. 66	259/287	Caucasian	Spain	SNPlex assay				Yes
COMT	rs165774	*	No	Migraine	Corominas et al. 66	259/287	Caucasian	Spain	SNPlex assay				Yes
COMT	rs4633	C > T	No	Migraine	Takigawa et al. 111	223/191	Asian	Japan	PCR-RFLP				Yes
COMT	rs4646316	*	No	Migraine	Corominas et al. 66	259/287	Caucasian	Spain	SNPlex assay				Yes
COMT	rs4818	*	No	Migraine	De Marchis et al. 108	380/132	Caucasian	Italy	Sanger sequencing				Yes
COMT	rs6267	G > T	No	Migraine	Takigawa et al. 111	223/191	Asian	Japan	PCR-RFLP				Yes
COMT	rs740601	*	No	Migraine	Corominas et al. 66	259/287	Caucasian	Spain	SNPlex assay				Yes
COMT	rs740603	*	No	Migraine	Corominas et al. 66	259/287	Caucasian	Spain	SNPlex assay				Yes
COMT	rs9332377	*	No	Migraine	Corominas et al. 66	259/287	Caucasian	Spain	SNPlex assay				Yes
COMT	rs933271	*	No	Migraine	Corominas et al. 66	259/287	Caucasian	Spain	SNPlex assay				Yes
COMT	rs2020917	*	No	Migraine	Corominas et al. 66	259/287	Caucasian	Spain	SNPlex assay				Yes
CYP1A1	rs4646903	*	Yes	Endometriosis	Arvanitis et al. 114	275/346	Caucasian	Greece	PCR	Yes	No	Yes
CYP1A1	rs4646903	T > C	Yes	Endometriosis	Barbosa et al. 115	52/42	Caucasian	Brazil	PCR-RFLP	Yes	Yes	Yes
CYP1A1	rs4646903	T > C	No	Endometriosis	Babu et al. 116	310/215	Asian	India	PCR-RFLP	Yes	Yes	Yes
CYP1A1	rs4646903	T > C	No	Endometriosis	Rozati et al. 117	97/102	Asian	India	PCR-RFLP	Yes	Yes	Yes
CYP1A1	rs4646903	T > C	No	Endometriosis	Juo et al. 105	105/312	Asian	China	PCR-RFLP	Yes	No	No
CYP1A1	rs4646903	T > C	No	Endometriosis	Babaki et al. 118	93/139	Asian	Iran	PCR-RFLP	Yes	Yes	Yes
CYP1A1	rs4646903	T > C	No	Endometriosis	Huber et al. 72	32/790	Caucasian	Austria	Multiplex-PCR	Yes	No	Yes
CYP1A1	rs4646903	*	No	Endometriosis	Wu et al. 119	121/171	Asian	Taiwan	Taqman assay	Yes	No	Yes
CYP1A1	rs4646903	T > C	No	Migraine	Sutherland et al. 110	268/140	Caucasian	Australia	PCR-RFLP				Yes
CYP1A1	rs1048943	A > G	No	Endometriosis	Huber et al. 72	32/790	Caucasian	Austria	Multiplex-PCR	Yes	No	Yes
CYP1A1	rs1048943	A > G	No	Migraine	Sutherland et al. 110	268/140	Caucasian	Australia	PCR-RFLP				Yes
CYP1A1	rs4646422	G > A	No	Endometriosis	Wang HS et al. 98	300/337	Asian	Taiwan	MALDI-TOF MS	Yes	No	Yes
CYP17A1	rs743572	T > C	Yes	Endometriosis	Bozdag et al. 120	46/39	Asian	Turkey	PCR	Yes	Yes	Yes
CYP17A1	rs743572	*	Yes	Endometriosis	Hsieh et al. 60	119/108	Asian	Taiwan	PCR	Yes	Yes	No
CYP17A1	rs743572	A > G	Yes	Endometriosis	Szczepańska et al. 121	115/197	Caucasian	Poland	HRM	Yes	Yes	Yes
CYP17A1	rs743572	T > C	No	Endometriosis	Vietri et al. 122	104/86	Caucasian	Italy	PCR	Yes	Yes	Yes
CYP17A1	rs743572	T > C	No	Endometriosis	De Carvalho et al. 79	121/281	Caucasian	Brazil	PCR-RFLP	Yes	No	No
CYP17A1	rs743572	T > C	No	Endometriosis	Huber et al. 72	32/790	Caucasian	Austria	Multiplex-PCR	Yes	No	Yes
CYP17A1	rs743572	T > C	No	Endometriosis	Vietri et al. 122	104/86	Caucasian	Italy	PCR	Yes	Yes	Yes
CYP17A1	rs743572	T > C	No	Endometriosis	Juo et al. 105	105/312	Asian	China	PCR-RFLP	Yes	No	No
CYP17A1	rs743572	*	No	Endometriosis	Kado et al. 36	140/177	Asian	Japan	PCR-RFLP	Yes	No	Yes
CYP17A1	rs743572	*	No	Endometriosis	Trabert et al. 40	256/567	Caucasian	USA	PCR-RFLP	Yes	No	Yes
CYP17A1	rs743572	*	No	Endometriosis	Wu et al. 61	121/171	Asian	Taiwan	Taqman assay	Yes	Yes	Yes
CYP17A1	rs619824	G > T	No	Endometriosis	Zhao et al. 123	768/768	Caucasian	Australia	MALDI-TOF MS	Yes	Yes	Yes
CYP17A1	rs3740397	C > G	No	Endometriosis	Zhao et al. 123	768/768	Caucasian	Australia	MALDI-TOF MS	Yes	Yes	Yes
CYP17A1	rs4919687	G > A	No	Endometriosis	Zhao et al. 123	768/768	Caucasian	Australia	MALDI-TOF MS	Yes	Yes	Yes
CYP17A1	rs6163	C > A	No	Endometriosis	Zhao et al. 123	768/768	Caucasian	Australia	MALDI-TOF MS	Yes	Yes	Yes
CYP17A1	rs6162	G > A	No	Endometriosis	Zhao et al. 123	768/768	Caucasian	Australia	MALDI-TOF MS	Yes	Yes	Yes
CYP17A1	rs743572	T > C	No	Endometriosis	Zhao et al. 123	768/768	Caucasian	Australia	MALDI-TOF MS	Yes	Yes	Yes
CYP17A1	rs2486758	T > C	No	Endometriosis	Zhao et al. 123	768/768	Caucasian	Australia	MALDI-TOF MS	Yes	Yes	Yes
CYP17A1	rs10786712	*	No	Endometriosis	Wu et al. 61	121/171	Asian	Taiwan	Taqman assay	Yes	No	Yes
CYP19A1	rs10046	*	No	Endometriosis	Wu et al. 61	121/171	Asian	Taiwan	Taqman assay	Yes	No	Yes
CYP19A1	rs10046	C > T	No	Endometriosis	Lamp et al. 49	150/199	Caucasian	Estonia	PCR-RFLP	Yes	No	Yes
CYP19A1	rs10046	C > T	No	Endometriosis	Szaflik et al. 74	100/100	Caucasian	Poland	Sanger sequencing	Yes	No	Yes
CYP19A1	rs10046	*	No	Endometriosis	Szczepańska et al. 122	115/197	Caucasian	Poland	HRM	Yes	Yes	Yes
CYP19A1	rs10046	T > C	No	Endometriosis	Wang L et al. 124	146/225	Asian	China	PCR	Yes	No	No
CYP19A1	rs10046	*	Yes	Migraine	Coşkun et al. 63	142/141	Asian	Turkey	PCR				Yes
CYP19A1	rs10046	*	Yes	Migraine	Ghosh et al. 56	334/200	Asian	India	PCR-SSCP				Yes
CYP19A1	rs10046	*	No	Migraine	Rodriguez-Acevedo et al. 67	282/155	Caucasian	Australia	MALDI-TOF MS				Yes
CYP19A1	rs10046	*	No	Migraine	An et al. 55	494/533	Asian	China	MALDI-TOF MS				Yes
CYP19A1	rs10046	*	No	Migraine	Oterino et al. 68	356/374	Caucasian	Spain	Real-Time PCR assay				Yes
CYP19A1	rs4646	C > A	No	Endometriosis	Szaflik et al. 74	100/100	Caucasian	Poland	Sanger sequencing	Yes	No	Yes
CYP19A1	rs4646	*	Yes	Migraine	Ghosh et al. 56	334/200	Asian	India	PCR-SSCP				Yes
CYP19A1	rs4646	*	No	Migraine	An et al. 55	494/533	Asian	China	MALDI-TOF MS				Yes
CYP19A1	rs4646	*	No	Migraine	Rodriguez-Acevedo et al. 67	282/155	Caucasian	Australia	MALDI-TOF MS				Yes
CYP19A1	rs700519	C > T	No	Endometriosis	Wang HS et al. 98	300/337	Asian	Taiwan	MALDI-TOF MS	Yes	No	Yes
CYP19A1	rs700519	C > T	No	Endometriosis	Tsuchiya et al. 37	75/57	Asian	Japan	PCR	Yes	Yes	Yes
CYP19A1	rs700519	C > T	No	Endometriosis	Huber et al. 72	32/790	Caucasian	Austria	Multiplex-PCR	Yes	No	Yes
CYP19A1	rs700519	C > T	No	Migraine	Sutherland et al. 110	268/140	Caucasian	Australia	PCR-RFLP				Yes
CYP19A1	rs2236722	T > C	No	Endometriosis	Wang HS et al. 98	300/337	Asian	Taiwan	MALDI-TOF MS	Yes	No	Yes
CYP19A1	rs2236722	T > C	No	Endometriosis	Wang L et al. 124	146/225	Asian	China	PCR	Yes	No	No
CYP19A1	TTTA repeat	(TTTA)n	Yes	Endometriosis	Arvanitis et al. 114	275/346	Caucasian	Greece	PCR	Yes	No	Yes
CYP19A1	TTTA repeat	(TTTA)n	Yes	Endometriosis	Kado et al. 36	140/177	Asian	Japan	PCR-RFLP	Yes	No	Yes
CYP19A1	TTTA repeat	(TTTA)n	No	Endometriosis	Lamp et al. 49	150/199	Caucasian	Estonia	PCR-RFLP	Yes	No	Yes
CYP19A1	TTTA repeat	(TTTA)n	No	Endometriosis	Hur et al. 125	224/188	Asian	Korea	PCR	Yes	Yes	Yes
CYP19A1	TTTA repeat	(TTTA)n	No	Endometriosis	Wang L et al. 124	146/225	Asian	China	PCR	Yes	No	No
CYP19A1	Val80	G > A	Yes	Endometriosis	Vietri et al. 122	104/86	Caucasian	Italy	PCR	Yes	Yes	Yes
CYP19A1	Val80	G > A	No	Endometriosis	Hur et al. 125	224/188	Asian	Korea	PCR	Yes	Yes	Yes
CYP19A1	C1558T	C > T	Yes	Endometriosis	Vietri et al. 122	104/86	Caucasian	Italy	PCR	Yes	Yes	Yes
CYP19A1	C1558T	C > T	No	Endometriosis	Huber et al. 72	32/790	Caucasian	Austria	Multiplex-PCR	Yes	No	Yes
CYP19A1	rs1004982	*	Yes	Endometriosis	Trabert et al. 40	256/567	Caucasian	USA	PCR-RFLP	Yes	No	Yes
CYP19A1	rs1870049	*	Yes	Endometriosis	Trabert et al. 40	256/567	Caucasian	USA	PCR-RFLP	Yes	No	Yes
CYP19A1	rs936307	*	Yes	Endometriosis	Trabert et al. 40	256/567	Caucasian	USA	PCR-RFLP	Yes	No	Yes
CYP19A1	rs8042086	*	Yes	Endometriosis	Wu et al. 61	121/171	Asian	Taiwan	Taqman assay	Yes	No	Yes
CYP19A1	TCT ins/del	*	No	Endometriosis	Lamp et al. 49	150/199	Caucasian	Estonia	PCR-RFLP	Yes	No	Yes
CYP19A1	115T > C	*	No	Endometriosis	Hur et al. 125	224/188	Asian	Korea	PCR	Yes	Yes	Yes
CYP19A1	1531C > T	*	No	Endometriosis	Hur et al. 125	224/188	Asian	Korea	PCR	Yes	Yes	Yes
CYP19A1	rs700518	A > G	No	Endometriosis	Wang L et al. 124	146/225	Asian	China	PCR	Yes	No	No
CYP19A1	rs2899470	*	Yes	Endometriosis	Smolarz et al. 77	200/200	Caucasian	Poland	HRM	Yes	No	Yes

ASRM: American Society for Reproductive Medicine; IHS: International Headache Society; ESR: estrogen receptor; PCR: polymerase chain reaction; PCR-SSCP: polymerase chain reaction-single-strand conformation polymorphism; PCR-RFLP: polymerase chain reaction-restriction fragment length polymorphism; HRM: high resolution melt; MALDI TOF MS: matrix-assisted laser desorption ionization-time-of-flight mass spectrometry; SNP: single nucleotide polymorphism; PGR: progesterone receptor; AR: androgen receptor; FSH: follicle stimulating hormone; FSHR: follicle stimulating hormone receptor; FSHB: FSH beta-subunit; SHBG: sex hormone-binding globulin; NRIP: nuclear receptor interacting protein; COMT: Catechol-O-methyl-transferase.

^*Not mentioned.