rs1800440, CYP1B1

N. diseases: 29
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Basal cell carcinoma
CUI: C0007117
Disease: Basal cell carcinoma
0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
Frontal fibrosing alopecia
CUI: C4255374
Disease: Frontal fibrosing alopecia
0.700 GeneticVariation GWASCAT Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02. 30850646 2019
Basal Cell Cancer
CUI: C0751676
Disease: Basal Cell Cancer
0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
Respiratory Tract Diseases
CUI: C0035242
Disease: Respiratory Tract Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Basal Cell Neoplasm
CUI: C0206710
Disease: Basal Cell Neoplasm
0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
Postmenopausal frontal fibrosing alopecia
0.700 GeneticVariation GWASCAT Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02. 30850646 2019
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.050 GeneticVariation BEFREE In summary, this meta-analysis suggests that Leu432Val polymorphism is associated with ovarian cancer, lung cancer, and endometrial cancer risk; Asn453Ser and Arg48Gly polymorphisms are associated with endometrial cancer risk among Caucasians, Ala119Ser polymorphism is associated with prostate cancer risk, and Ala119Ser polymorphism is associated with breast cancer risk in Caucasians. 25475389 2015
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
0.050 GeneticVariation BEFREE In summary, this meta-analysis suggests that Leu432Val polymorphism is associated with ovarian cancer, lung cancer, and endometrial cancer risk; Asn453Ser and Arg48Gly polymorphisms are associated with endometrial cancer risk among Caucasians, Ala119Ser polymorphism is associated with prostate cancer risk, and Ala119Ser polymorphism is associated with breast cancer risk in Caucasians. 25475389 2015
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.050 GeneticVariation BEFREE CYP1B1 Leu432Val and Asn453Ser polymorphisms demonstrated an increased and decreased risk for endometrial cancer, respectively. 23370603 2013
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
0.050 GeneticVariation BEFREE CYP1B1 Leu432Val and Asn453Ser polymorphisms demonstrated an increased and decreased risk for endometrial cancer, respectively. 23370603 2013
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.050 GeneticVariation BEFREE In conclusion, this meta-analysis provides strong evidence that CYP1B1 gene R48G, L432V, and N4</span>53S polymorphisms are associated with endometrial cancer risk, but not A119S. 21191305 2011
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
0.050 GeneticVariation BEFREE In conclusion, this meta-analysis provides strong evidence that CYP1B1 gene R48G, L432V, and N4</span>53S polymorphisms are associated with endometrial cancer risk, but not A119S. 21191305 2011
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.050 GeneticVariation BEFREE The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymorphism were associated with a decreased risk of developing endometrial cancer. 20381444 2010
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
0.050 GeneticVariation BEFREE The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymorphism were associated with a decreased risk of developing endometrial cancer. 20381444 2010
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
0.050 GeneticVariation BEFREE We evaluated the association between the CYP1B1 Leu432Val and CYP1B1 Asn453Ser polymorphisms and the COMT Val158Met polymorphism and invasive endometrial cancer risk in a case-control study nested within the Nurses' Health Study (n = 222 cases, 666 controls). 14656940 2004
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.050 GeneticVariation BEFREE We evaluated the association between the CYP1B1 Leu432Val and CYP1B1 Asn453Ser polymorphisms and the COMT Val158Met polymorphism and invasive endometrial cancer risk in a case-control study nested within the Nurses' Health Study (n = 222 cases, 666 controls). 14656940 2004
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE In summary, this meta-analysis suggests that Leu432Val polymorphism is associated with ovarian cancer, lung cancer, and endometrial cancer risk; Asn453Ser and Arg48Gly polymorphisms are associated with endometrial cancer risk among Caucasians, Ala119Ser polymorphism is associated with prostate cancer risk, and Ala119Ser polymorphism is associated with breast cancer risk in Caucasians. 25475389 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 GeneticVariation BEFREE In summary, this meta-analysis suggests that Leu432Val polymorphism is associated with ovarian cancer, lung cancer, and endometrial cancer risk; Asn453Ser and Arg48Gly polymorphisms are associated with endometrial cancer risk among Caucasians, Ala119Ser polymorphism is associated with prostate cancer risk, and Ala119Ser polymorphism is associated with breast cancer risk in Caucasians. 25475389 2015
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.040 GeneticVariation BEFREE In summary, this meta-analysis suggests that Leu432Val polymorphism is associated with ovarian cancer, lung cancer, and endometrial cancer risk; Asn453Ser and Arg48Gly polymorphisms are associated with endometrial cancer risk among Caucasians, Ala119Ser polymorphism is associated with prostate cancer risk, and Ala119Ser polymorphism is associated with breast cancer risk in Caucasians. 25475389 2015
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.040 GeneticVariation BEFREE In summary, this meta-analysis suggests that Leu432Val polymorphism is associated with ovarian cancer, lung cancer, and endometrial cancer risk; Asn453Ser and Arg48Gly polymorphisms are associated with endometrial cancer risk among Caucasians, Ala119Ser polymorphism is associated with prostate cancer risk, and Ala119Ser polymorphism is associated with breast cancer risk in Caucasians. 25475389 2015
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.040 GeneticVariation BEFREE According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and SULT2B1 (rs12460535, rs2665582, rs10426628) were significantly associated with prostate cancer progression and hormone levels. 24682418 2014
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.040 GeneticVariation BEFREE According to a multivariate analysis, CYP1B1 (rs1800440), COMT (rs16982844), and SULT2B1 (rs12460535, rs2665582, rs10426628) were significantly associated with prostate cancer progression and hormone levels. 24682418 2014
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.040 GeneticVariation BEFREE The results suggest that L432V, N453S, and A119S polymorphisms of CYP1B1 might be associated with the susceptibility of PCa. 23861929 2013
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.040 GeneticVariation BEFREE The results suggest that L432V, N453S, and A119S polymorphisms of CYP1B1 might be associated with the susceptibility of PCa. 23861929 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 GeneticVariation BEFREE We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (het) = 0.003) and within CYP17A1 (rs743572; p (het) = 0.009) in which never users of HT were at a decreased risk of breast cancer, while ever users were at a non-significant increased risk. 22418777 2012