Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1048943
rs1048943
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE The results of the present study suggest that CYP1A1 Ile462Val polymorphism might be a low-penetrant risk factor for acute leukemia. 23056546

2012

dbSNP: rs1048943
rs1048943
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis
0.010 GeneticVariation BEFREE Association of CYP1A1 rs1048943 variant with aggressive periodontitis and its interaction with hyperlipidemia on the periodontal status. 31032950

2019

dbSNP: rs1048943
rs1048943
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure
0.010 GeneticVariation BEFREE The final model which included >5 risk alleles in the CYP1A1 (rs2606345, rs4646903, rs1048943), GCLC, AGT, and AGTR1 genes was associated with pleuritis, empyema, acute respiratory distress syndrome, all PC and acute respiratory failure (ARF). 24068433

2013

dbSNP: rs1048943
rs1048943
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 GeneticVariation BEFREE CYP1A1 Ile462Val and MPO G-463A interact to increase risk of adenocarcinoma but not squamous cell carcinoma of the lung. 16195240

2006

dbSNP: rs1048943
rs1048943
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.030 GeneticVariation BEFREE The odds ratio (OR) of lung cancer for the variant CYP1A1 Ile(462)Val polymorphism (Ile/Val, Val/Val) was 2.99 [95% confidence interval (95%CI) 1.51-5.91]; this effect was stronger on lung adenocarcinoma (OR 4.85, 95%CI 2.03-11.6). 12771031

2003

dbSNP: rs1048943
rs1048943
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.030 GeneticVariation BEFREE Theses results suggest that the CYP1A1 Ile462Val polymorphism is associated with a reduced risk of lung adenocarcinoma in never-smoking Korean women, whereas specific combinations of variant genotypes for metabolic enzymes increase lung cancer risk considerably. 17980933

2008

dbSNP: rs1048943
rs1048943
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.030 GeneticVariation BEFREE In this study, polymorphisms in five genes involved in the metabolism of carcinogens or in the repair of damaged DNA in lung cells, NQO1-Pro187Ser, GSTT1-positive/null, GSTM1-positive/null, CYP1A1-Ile462Val, and OGG1-Ser326Cys, were examined for association with lung adenocarcinoma risk in a case-control study of 198 patients and 152 control subjects. 12163326

2002

dbSNP: rs1048943
rs1048943
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis
0.010 GeneticVariation BEFREE Association of CYP1A1 rs1048943 variant with aggressive periodontitis and its interaction with hyperlipidemia on the periodontal status. 31032950

2019

dbSNP: rs1048943
rs1048943
Aggressive periodontitis, generalized
0.010 GeneticVariation BEFREE Hyperlipidemia could modulate the effect of CYP1A1 rs1048943 on the periodontal status of GAgP. 31032950

2019

dbSNP: rs1048943
rs1048943
CUI: C0003467
Disease: Anxiety
Anxiety
0.010 GeneticVariation BEFREE The ETS-exposed group with both the CYP1A1 MspI and the CYP1A1 Ile462Val variants had higher scores, as reflected in total CBCL score as well as scores on the internalizing scale and its emotional subdomain, the anxious scale, and the externalizing scale and its aggressive subdomain. 20855412

2010

dbSNP: rs1048943
rs1048943
CUI: C0004096
Disease: Asthma
Asthma
0.010 GeneticVariation BEFREE To assess the effect of IL13 (-1112 C>T and Arg110Gln), GSTP1 (Ile105Val), and CYP1A1 (Ile462Val) on asthma risk and ETS exposure, we recruited 201 unrelated children and classified them into four groups: (1) control without ETS exposure; (2) control with ETS exposure; (3) with asthma and with ETS exposure and (4) with asthma and without ETS exposure. 22236719

2012

dbSNP: rs1048943
rs1048943
CUI: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma
0.010 GeneticVariation BEFREE The CYP1A1 IVS1 + 606 (rs2606345) T allele was associated with gallbladder [odds ratio (OR) = 2.0, 95% confidence interval (CI), 1.3-3.0] and bile duct cancers (OR = 1.8, 95% CI = 1.1-3.1), whereas the CYP1A1 Ex7 + 131 (rs1048943) G allele was associated with ampulla of Vater cancer (OR = 2.9, 95% CI = 1.5-5.4). 19168589

2009

dbSNP: rs1048943
rs1048943
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.020 GeneticVariation BEFREE CYP1A1 (Ile462Val), CYP1B1 (Ala119Ser and Val432Leu), GSTM1 (null), and GSTT1 (null) polymorphisms and bladder cancer risk in a Turkish population. 23886208

2013

dbSNP: rs1048943
rs1048943
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.020 GeneticVariation BEFREE The aim of this study was to investigate a possible association of the CYP1A1 Ile462Val and GSTM1 null polymorphisms with the risk of developing bladder cancer in a Turkish population. 21709011

2011

dbSNP: rs1048943
rs1048943
CUI: C0005967
Disease: Bone neoplasms
Bone neoplasms
0.010 GeneticVariation BEFREE The allelic variation frequency of the CYP1A1 gene at exon 7 (Ile 462 Val) in bone tumor patients was 0.462, which was significantly higher than that in the normal controls (0.223). 26681006

2015

dbSNP: rs1048943
rs1048943
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.010 GeneticVariation BEFREE The increased risk of brain tumors was evident for CYP1A1 rs2606345 (P = 0.0028; OR = 2.06; 95 % CI, 1.27-3.34) and minor haplotypes rs2606345-rs1048943-rs4646903 in females (global haplotype association P value, 0.0011). 23661361

2013

dbSNP: rs1048943
rs1048943
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.080 GeneticVariation BEFREE The objective of this study was to assess the association between M2 (A2455G, Ile462Val) and M4 (C2453A, Thr461Asn) polymorphisms in CYP1A1 and breast cancer risk among Jordanian women and in subgroups stratified by menopausal status and smoking history. 26838244

2016

dbSNP: rs1048943
rs1048943
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.080 GeneticVariation BEFREE No association was found between any CYP1A1 Ile462Val polymorphism and breast cancer. 17603290

2007

dbSNP: rs1048943
rs1048943
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.080 GeneticVariation BEFREE We here carried out a population based case-control study of the CYP MspI (CYP1A1*1/M1) and Ile462Val (CYP1A1*2/M2) polymorphisms in CYP1A1 to clarify their importance in determining breast cancer susceptibility in a South Indian population. 22292665

2011

dbSNP: rs1048943
rs1048943
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.080 GeneticVariation BEFREE We investigated the associations between two CYP1A1 polymorphisms (Ile462Val and Thr461Asn) and one CYP1B1 polymorphism (Leu432Val) and breast cancer risk. 17063266

2007

dbSNP: rs1048943
rs1048943
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.080 GeneticVariation BEFREE We examined the potential association of breast cancer risk in Mexican women with the polymorphisms CYP1A1 rs1048943, CYP1B1 rs1056836, COMT rs4680, GSTP1 rs1695, GSTT1 null and GSTM1 null which are involved in estrogen metabolism pathway. 23000097

2013

dbSNP: rs1048943
rs1048943
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.080 GeneticVariation BEFREE The genotype distribution of Ile462Val in controls was also close to that expected under HWE with no significant differences between breast cancer cases and the controls (P = 0.44). 11698341

2001

dbSNP: rs1048943
rs1048943
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.080 GeneticVariation BEFREE No association between COMT 1947 G>A (rs4680) or CYP1A1 4889 A>G (rs1048943) and breast cancer was found. 20878621

2011

dbSNP: rs1048943
rs1048943
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.080 GeneticVariation BEFREE The increased risk of breast cancer associated with E+P use was greater among women with at least one rare allele of the CYP1A1 Ile(462)Val, CYP1A1 MspI, CYP1B1 Asn(453)Ser, and PGR Val(660)Leu polymorphisms than among women homozygous for the common allele of these polymorphisms. 18628428

2008

dbSNP: rs1048943
rs1048943
CUI: C0007121
Disease: Bronchogenic Carcinoma
Bronchogenic Carcinoma
0.010 GeneticVariation BEFREE The '1.9 allele' is associated with an increased incidence of Kreyberg Type I bronchogenic carcinomas in Japan and has recently been correlated with a valine-to-isoleucine substitution at position 462 in the haeme-binding region. 1844873

1991