• Gene id: 1543

Gene Summary

• Gene Symbol: CYP1A1   Gene   UCSC   Ensembl
• Aliases: AHH, AHRR, CP11, CYP1, CYPIA1, P1-450, P450-C, P450DX
• Gene name: cytochrome P450 family 1 subfamily A member 1
• Alternate names: cytochrome P450 1A1, aryl hydrocarbon hydroxylase, cytochrome P1-450, dioxin-inducible, cytochrome P450 form 6, cytochrome P450, family 1, subfamily A, polypeptide 1, cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1, cytochrome P4,
• Gene location: 15q24.1 (74725609: 74719541)     Exons: 7     NC_000015.10
• Gene summary(Entrez): This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This prot
• OMIM: 108330

SNPs

rs1048943

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.74720644T>A
NC_000015.10   g.74720644T>C
NC_000015.10   g.74720644T>G
NC_000015.9   g.75012985T>A
NC_000015.9   g.75012985T>C
NC_000015.9   g.75012985T>G
NG_008431.2   g.3103T>A
NG_008431.2   g.3103T>C
NG_008431.2   g.3103T>G
NM_000499.4   c.1384A>T
NM_  

rs4646903

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.74719300A>G
NC_000015.10   g.74719300A>T
NC_000015.9   g.75011641A>G
NC_000015.9   g.75011641A>T
NG_008431.2   g.1759A>G
NG_008431.2   g.1759A>T
NG_061374.1   g.11229T>C
NG_061374.1   g.11229T>A|SEQ=[A/G/T]|GENE=CYP1A1

rs4646422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.74722964C>G
NC_000015.10   g.74722964C>T
NC_000015.9   g.75015305C>G
NC_000015.9   g.75015305C>T
NG_008431.2   g.5423C>G
NG_008431.2   g.5423C>T
NM_000499.4   c.134G>C
NM_000499.4   c.134G>A
NM_000499.5   c.134G>C
NM_000499.5   c.134G>A
NM_000499.3   c.13

Protein Summary

• Protein general information: P04798  
  • Name: Cytochrome P450 1A1 (EC 1.14.14.1) (CYPIA1) (Cytochrome P450 form 6) (Cytochrome P450 C) (Cytochrome P450 P1)
  • Length: 512  
  • Mass: 58,165
  • Tissue specificity: Ovary, testis and brain (at protein level). In the ovaries, expressed during multiple stages of oogenesis, including primordial, primary, secondary and antral follicles with the highest expression in the oocytes. In the testis, express
• Sequence:

  MLFPISMSATEFLLASVIFCLVFWVIRASRPQVPKGLKNPPGPWGWPLIGHMLTLGKNPHLALSRMSQQYGDVLQ
  IRIGSTPVVVLSGLDTIRQALVRQGDDFKGRPDLYTFTLISNGQSMSFSPDSGPVWAARRRLAQNGLKSFSIASD
  PASSTSCYLEEHVSKEAEVLISTLQELMAGPGHFNPYRYVVVSVTNVICAICFGRRYDHNHQELLSLVNLNNNFG
  EVVGSGNPADFIPILRYLPNPSLNAFKDLNEKFYSFMQKMVKEHYKTFEKGHIRDITDSLIEHCQEKQLDENANV
  QLSDEKIINIVLDLFGAGFDTVTTAISWSLMYLVMNPRVQRKIQEELDTVIGRSRRPRLSDRSHLPYMEAFILET
  FRHSSFVPFTIPHSTTRDTSLKGFYIPKGRCVFVNQWQINHDQKLWVNPSEFLPERFLTPDGAIDKVLSEKVIIF
  GMGKRKCIGETIARWEVFLFLAILLQRVEFSVPLGVKVDMTPIYGLTMKHACCEHFQMQLRS

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002401  IPR008066  IPR036396  
  • Prosite: PS00086
  • PDB: 4I8V
  • PDBsum: 4I8V
  • STRING: ENSP00000369050
• Other Databases: GeneCards:  CYP1A1  Malacards:  CYP1A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001666	response to hypoxia	IEA	biological process
GO:0004497	monooxygenase activity	IBA	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006778	porphyrin-containing compound metabolic process	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0008283	cell proliferation	IEA	biological process
GO:0008395	steroid hydroxylase activity	IEA	molecular function
GO:0009308	amine metabolic process	IEA	biological process
GO:0009611	response to wounding	IEA	biological process
GO:0009615	response to virus	IEA	biological process
GO:0009624	response to nematode	IEA	biological process
GO:0009635	response to herbicide	IEA	biological process
GO:0009692	ethylene metabolic process	TAS	biological process
GO:0009792	embryo development ending in birth or egg hatching	IEA	biological process
GO:0009804	coumarin metabolic process	IEA	biological process
GO:0009812	flavonoid metabolic process	IEA	biological process
GO:0010041	response to iron(III) ion	IEA	biological process
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0016679	oxidoreductase activity, acting on diphenols and related substances as donors	IEA	molecular function
GO:0016711	flavonoid 3'-monooxygenase activity	IEA	molecular function
GO:0017143	insecticide metabolic process	IEA	biological process
GO:0017144	drug metabolic process	IDA	biological process
GO:0019341	dibenzo-p-dioxin catabolic process	IEA	biological process
GO:0019373	epoxygenase P450 pathway	TAS	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0019899	enzyme binding	IEA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0032094	response to food	IEA	biological process
GO:0032451	demethylase activity	IEA	molecular function
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0033189	response to vitamin A	IEA	biological process
GO:0035902	response to immobilization stress	IEA	biological process
GO:0042359	vitamin D metabolic process	IC	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042904	9-cis-retinoic acid biosynthetic process	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0046677	response to antibiotic	IEA	biological process
GO:0046685	response to arsenic-containing substance	IEA	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:0050665	hydrogen peroxide biosynthetic process	IEA	biological process
GO:0055093	response to hyperoxia	IEA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0060137	maternal process involved in parturition	IEA	biological process
GO:0070330	aromatase activity	IEA	molecular function
GO:0070365	hepatocyte differentiation	IEA	biological process
GO:0070576	vitamin D 24-hydroxylase activity	IDA	molecular function
GO:0070988	demethylation	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IDA	biological process
GO:0097267	omega-hydroxylase P450 pathway	TAS	biological process
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004497	monooxygenase activity	IBA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006778	porphyrin-containing compound metabolic process	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0008283	cell proliferation	IEA	biological process
GO:0008395	steroid hydroxylase activity	IEA	molecular function
GO:0009308	amine metabolic process	IEA	biological process
GO:0009404	toxin metabolic process	IEA	biological process
GO:0009611	response to wounding	IEA	biological process
GO:0009615	response to virus	IEA	biological process
GO:0009624	response to nematode	IEA	biological process
GO:0009635	response to herbicide	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0009692	ethylene metabolic process	TAS	biological process
GO:0009792	embryo development ending in birth or egg hatching	IEA	biological process
GO:0009804	coumarin metabolic process	IEA	biological process
GO:0009812	flavonoid metabolic process	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0010041	response to iron(III) ion	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0016679	oxidoreductase activity, acting on diphenols and related substances as donors	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0016711	flavonoid 3'-monooxygenase activity	IEA	molecular function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA	molecular function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA	molecular function
GO:0017143	insecticide metabolic process	IEA	biological process
GO:0017144	drug metabolic process	IDA	biological process
GO:0018894	dibenzo-p-dioxin metabolic process	IEA	biological process
GO:0019341	dibenzo-p-dioxin catabolic process	IEA	biological process
GO:0019373	epoxygenase P450 pathway	TAS	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019899	enzyme binding	IEA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0031090	organelle membrane	IEA	cellular component
GO:0032094	response to food	IEA	biological process
GO:0032451	demethylase activity	IEA	molecular function
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0032502	developmental process	IEA	biological process
GO:0033189	response to vitamin A	IEA	biological process
GO:0035902	response to immobilization stress	IEA	biological process
GO:0042359	vitamin D metabolic process	IC	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042904	9-cis-retinoic acid biosynthetic process	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0046483	heterocycle metabolic process	IEA	biological process
GO:0046677	response to antibiotic	IEA	biological process
GO:0046685	response to arsenic-containing substance	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048565	digestive tract development	IEA	biological process
GO:0050665	hydrogen peroxide biosynthetic process	IEA	biological process
GO:0055093	response to hyperoxia	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0060137	maternal process involved in parturition	IEA	biological process
GO:0070330	aromatase activity	IEA	molecular function
GO:0070365	hepatocyte differentiation	IEA	biological process
GO:0070576	vitamin D 24-hydroxylase activity	IDA	molecular function
GO:0070988	demethylation	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IDA	biological process
GO:0097267	omega-hydroxylase P450 pathway	TAS	biological process
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IEA	biological process
GO:0004497	monooxygenase activity	IBA	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0009692	ethylene metabolic process	TAS	biological process
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0017144	drug metabolic process	IDA	biological process
GO:0019373	epoxygenase P450 pathway	TAS	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0042359	vitamin D metabolic process	IC	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0070576	vitamin D 24-hydroxylase activity	IDA	molecular function
GO:0071407	cellular response to organic cyclic compound	IDA	biological process
GO:0097267	omega-hydroxylase P450 pathway	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04913	Ovarian steroidogenesis
hsa05204	Chemical carcinogenesis

Diseases

Associated diseases	References
Brill-Symmers disease	GAD: 20029944
Cancer	GAD: 18409147
Cancer (Adenocarcinoma)	GAD: 7834609
Cancer (Adenoma)	GAD: 20375710
Cancer (Aerodigestive tract)	GAD: 20012094
Cancer (basal cell)	GAD: 11511301
Leukoplakia	GAD: 18507060
Cancer (bladder)	GAD: 16956909
Cancer (brain)	GAD: 16598069
Cancer (cervical)	GAD: 19012698
Cancer (colon)	GAD: 16926176
Cancer (colorectal)	GAD: 16202920
Cancer (endometrial)	GAD: 15734958
Cancer (esophageal)	GAD: 15327835
Cancer (gastric)	GAD: 19521675
Cancer (head and neck)	GAD: 18767181
Cancer (Hepatocellular)	GAD: 19064581
Cancer (laryngeal)	GAD: 19252926
Cancer (leiomyoma)	GAD: 18763031
Cancer (leukemia)	GAD: 15981231
Cancer (liver)	GAD: 15341023
Cancer (lung)	GAD: 15640066
Cancer (lymphoma)	GAD: 18203021
Cancer (mesothelioma)	GAD: 16697254
Cancer (mouth)	GAD: 19160101
Cancer (myeloma)	GAD: 15136237
Cancer (non-Hodgkin lymphoma)	GAD: 12139735
Cancer (non-melanoma skin cancer)	GAD: 17083362
Cancer (oral)	GAD: 16393248
Cancer (ovarian)	GAD: 16284375
Cancer (pancreatic)	GAD: 12120227
Cancer (Papilary)	GAD: 18601742
Cancer (prostate)	GAD: 14719475
Cancer (Renal cell)	GAD: 17982751
Cancer (Squamous cell)	GAD: 10435155
Cancer (stomach)	GAD: 15991278
Cancer (testicular)	GAD: 19776291
Cancer (thyroid)	GAD: 17158763
Cancer (breast)	GAD: 12036913
Atherosclerosis	GAD: 11259393
Cardiovascular disease	GAD: 12704594
Hypertension	GAD: 15185560
Intrauterine growth retardation	GAD: 14665706
Cleft defects	GAD: 18449058
Cleft defects	GAD: 18698632
Graves disease	GAD: 19903800
Macular degeneration	GAD: 15774926
Eye diseases	GAD: 18447907
Pterygium	GAD: 20596254
Anemia	GAD: 12934333
Myelodysplastic syndrome	GAD: 11279306
Hodgkin disease	GAD: 11406608
Ankylosing spondylitis	GAD: 12880680
Arthritis	GAD: 12590982
Asthma	GAD: 12018173
Behcet's disease	GAD: 15088300
Crohn's disease	GAD: 12631667
Psoriasis	GAD: 12713578
Psoriatic arthritis	GAD: 15124938
Systemic lupus erythematosus (SLE)	GAD: 19561157
Systemic lupus erythematosus (SLE)	GAD: 10599336
Alzheimer's disease	GAD: 14582397
Diabetes	GAD: 12732844
Hypercholesterolemia	GAD: 12879168
Obesity	GAD: 20734064
Cholelithiasis	GAD: 18247309
Bone diseases	GAD: 19453261
Osteoporosis	GAD: 18779756
Peripheral nervous system diseases	GAD: 16484137
Amyotrophic lateral sclerosis (ALS)	GAD: 17852022
Parkinson disease	GAD: 11798822
Epilepsy	GAD: 21121773
Cirrhosis	GAD: 11436564
Dysmenorrhea	GAD: 11172643
Autism	GAD: 19598235
Mental disorder	GAD: 19860743
Chronic renal failure	GAD: 21085059
Abortion	GAD: 15333597
Adenomyosis	GAD: 16527884
Hypospadias	GAD: 15579657
Connective tissue diseases	GAD: 19527514
Endometriosis	GAD: 11393538
Preeclampsia	GAD: 15734083
Miscarriage	GAD: 19892789
Recurrent pregnancy loss (RPL)	GAD: 15299091
Preterm birth risk	GAD: 11520401
Endometriosis	INFBASE: 16527884
Female infertility	INFBASE: 11393538
Endometriosis	INFBASE: 11393538
Ovarian endometriosis	INFBASE: 18849443
Polycystic ovary syndrome (PCOS)	INFBASE: 19387820
Male factor infertility	MIK: 18774560
Male factor infertility	MIK: 17559847
Azoospermia	MIK: 15474075
Sperm concentration and motility	MIK: 21429951
Sperm motility	MIK: 27117375
Male factor infertility	MIK: 24488272
Spermatogenesis defects	MIK: 21429951
Azoospermia	MIK: 18980759
Spermatogenesis defects	MIK: 18980759
Male factor infertility	MIK: 9635090
Oligozoospermia	MIK: 18980759
Oligozoospermia	MIK: 15474075
Non obstructive azoospermia	MIK: 17651397
Chorioamnionitis	GAD: 18320229
Human spermatogenic defect	GAD: 18980759
Chronic obstructive pulmonary disease (COPD)	GAD: 18389617
Rhinitis	GAD: 20088379
Emphysema	GAD: 12579334
Encephalopathy	GAD: 17022435
Genital diseases	GAD: 19799358
Uterine fibroids	GAD: 16835796
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 15474075
Oligozoospermia	MIK: 15474075
Male infertility	MIK: 15474075
Spermatogenesis defects	MIK: 18980759
Sperm concentration	MIK: 21429951
Sperm motility	MIK: 21429951

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21429951	Spermatogenesis defects	rs1801132 and rs2228480 of the ER-? gene, rs1256049 and rs4986938 of the ER-? gene, rs605059 of the HSD17B1 gene, rs1799941 of the SHBG gene and rs1048943 and rs4646903 of the CYP1A1 gene		677 (10 fertile men, 467 infertile men)	Male infertility	ER-?  ER-? CYP19A1 HSD17B1 CYP1A1 CYP1B1 COMT GSTM1 GSTT1 SHBG
24488272	Idiopathic male infertility	rs1042389 in CYP2B6, rs1048943 in CYP1A1, and rs1799931 in NAT2		1001 (600 idiopathic infertile male patients, 401 controls)	Male infertility	CYP2B6 CYP1A1  NAT2
21775774	Idiopathic male infertility		Norther n Iran	350 (150 infertile men, 200 healthy men as controls)	Male infertility	GSTT1 GSTM1 and CYP1A1
18774560	Male factor infertility	CYP1A1 Val/Val or CYP1A1 Ile/Val, GSTM null genotype		215 (110 men with infertility, 105 healthy fertile men)	Male infertility	CYP1A1(*)2C  GSTM1 and GSTT1
24466186	Idiopathic male infertility	3801T>C polymorphism		2285 (1,060 cases, 1,225 controls)	Male infertility
24316127	Idiopathic male infertility		Asian	2285 (1,060 cases, 1,225 controls)	Male infertility
18774560	Male factor infertility			215 (110 men with infertility, 105 healthy fertile men)	Male infertility
17651397	Non-obstructive azoospermia or severe oligozoospermia, Male infertility		Chinese	418 (192 infertile patients with non-obstructive azoospermia or severe oligozoospermia, 226 fertile controls)	Male infertility
15474075	Azoospermia or severe oligozoospermia, Male infertility	Pro185Ala	Japanes e	235 (123 men with azoospermia or severe oligozoospermia, 112 men with proven fertility)	Male infertility
9635090	Male infertility	Mspl polymorphism in the 3'-flanking region of the CYP1A1 gene	Caucasi an	134 infertile Caucasian men	Male infertility
27117375	Total motile sperm	CYP1A1 3801T>C polymorphism			Male infertility
17559847	Male factor infertility	AHR (Arg554Lys), AHRR (Pro185Ala), and ARNT (G/C allele)	Estonia n	324 (112 with azoospermia or oligozoospermia, 212 controls)	Male infertility	AHR AHRR ARNT
27416666	Male infertility	CYP1A1 (rs4646422)	Han chi nese	1078 (636 infertile males, 442 normal healthy men)	Male infertility
19786002	Male infertility	CYP1A1*2A CC	Indian	436 (206 infertile men, 230 healthy fertile (control) subjects)	Male infertility
18980759	Oligozoospermia, azoospermia, impaired spermatogenesis	(rs180113 of ER-alpha gene, rs1256049 of ER-beta gene, rs1048943 of CYP1A1 gene, rs8191246 of HSD17B2 gene, and rs1799941 along with rs6259 of SHBG gene	Taiwane se Han	303 (183 oligozoospermatic (sperm count <20 x 10(6)/mL) or azoospermatic males, 120 fertile control males)	Male infertility	ER-alpha ER-beta CYP17 CYP19A1 HSD17B2 CYP1A1 CYP1B1 COMT SHBG
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881