rs2069514
This is a upstream gene variant variant in the CYP1A2 gene.
▶Research that mentions this SNP (5)
▶Genetic variants conferring susceptibility to gastroschisis: a phenomenon restricted to the interaction with the environment?Meta-analysisN=434Victor M. Salinas-Torres et al.(2018)· Pediatric Surgery International
This systematic review analyzed genetic associations with gastroschisis from 1980-2017, identifying 14 SNPs from 10 genes associated with crude risk and 30 SNPs from 14 genes with stratified risk. Four SNPs showed significant associations: rs4961 (ADD1, p=0.023), rs5443 (GNB3, p=0.002), rs1042713 (ADRB2, p=0.007), and rs1042714 (ADRB2, p=0.006). The findings suggest genetic susceptibility in gastroschisis is not restricted to gene-environment interactions, with blood pressure regulation genes playing a significant role in vascular disruption pathogenesis.
▶Haplotypes in the 5′‐untranslated region of theCYP1A2gene are inversely associated with lung cancer risk but do not correlate with caffeine metabolismMeta-analysisN=2,766Guillermo Gervasini et al.(2013)· Environmental and Molecular Mutagenesis
This meta-analysis pooled data from 6 case-control studies (1,168 lung cancer patients, 1,598 controls) to assess the association between the CYP1A2 -3860 G>A polymorphism (rs2069514) and lung cancer risk. The analysis found no significant correlation in any genetic model (AA vs GG: OR=4.79, 95% CI=0.03-702.67; GA vs GG: OR=1.33, 95% CI=0.74-2.39; dominant: OR=1.41, 95% CI=0.69-2.90; recessive: OR=4.07, 95% CI=0.04-368.35), concluding the polymorphism is unlikely a risk factor for lung cancer.
▶Interindividual Variability in the Hepatic Expression of the Human Breast Cancer Resistance Protein (BCRP/ABCG2): Effect of Age, Sex, and GenotypeAssociationN=1,000Bhagwat Prasad et al.(2013)· Journal of Pharmaceutical Sciences
Case-control study of 1,000 Han Chinese individuals (450 epilepsy cases, 550 controls) examining associations between STX1B polymorphisms and epilepsy treatment response. The rs140820592 variant showed significant association with reduced epilepsy risk (OR=0.542, p=0.004) and drug-resistant epilepsy risk (OR=0.260, p=0.004), with eQTL analysis confirming rs140820592 regulates STX1B expression in brain tissues.
▶Variants in ABCB1 , TGFB1 , and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican AmericansAssociationN=6,779Lyna Zhang et al.(2012)· Hepatology
Candidate gene association study of 67 genetic variants in 27 inflammation and DNA repair genes with hepatitis A virus (HAV) infection susceptibility in 6,779 NHANES III participants (2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, 2,065 Mexican Americans). Among Mexican Americans, ABCB1 rs1045642 T allele was associated with lower HAV seropositivity risk (OR=0.79, p<0.001), while TGFB1 rs1800469 and XRCC1 rs1799782 T alleles were associated with increased risk (OR=1.38 and 1.57, respectively). CAT rs769214 and CYP2E1 rs2031920 showed marginal associations with decreased and increased HAV risk, respectively.
▶Induction of CYP1A2 by heavy coffee consumption is associated with the CYP1A2 −163C>A polymorphismAssociationN=178Natasa Djordjevic et al.(2010)· European Journal of Clinical Pharmacology
This study investigates the association of CYP1A2 genetic polymorphisms with heavy coffee consumption's effect on CYP1A2 enzyme activity in Serbian (n=64) and Swedish (n=114) populations. The key finding is that the CYP1A2 -163C>A polymorphism (rs762551) shows a significant increasing effect on CYP1A2 inducibility by heavy coffee consumption (Serbian P=0.022, Swedish P=0.016), with the highest enzyme activity in -163 A/A carriers. This polymorphism explains 22% and 14% of phenotypic variability in Serbian and Swedish heavy coffee consumers, respectively.
About CYP1A2
This gene 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. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]
View all CYP1A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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