Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762551
rs762551
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.100 GeneticVariation BEFREE We also evaluated patient genotype in the caffeine metabolism related single nucleotide polymorphism rs762551. 30179617

2019

dbSNP: rs762551
rs762551
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.100 GeneticVariation BEFREE In stratified analysis, a statistical significance within the caffeinated group was observed for the change in systolic BP in the stratum of CYP1A2 polymorphism with daily caffeine consumption ≤90 mg/day: change in systolic BP in the CYP1A2 rs762551 CC group (mean ± SD = 11.8 ± 5.9) was higher than that in the AA/CA group (4.1 ± 5.5). 30773300

2019

dbSNP: rs762551
rs762551
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.100 GeneticVariation BEFREE Spot urine samples obtained 6 hours following 200-mg caffeine administration were used to determine caffeine metabolite ratios (CMRs); blood samples were used to determine CYP1A2*1F (rs762551) and CYP1A2*1C (rs2069514) polymorphisms and the hormonal profile (estradiol, progesterone, and luteinizing and follicle-stimulating hormones) at EFP, LFP, and LP. 30591530

2019

dbSNP: rs762551
rs762551
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.100 GeneticVariation BEFREE This study aimed to examine whether functional single nucleotide polymorphisms (SNPs) in 1976T > C (ADORA2A; rs5751876) and -163C > A (CYP1A2; rs762551) influence the effect of caffeine on the postprandial glucose (GLU) response to a carbohydrate meal. 31324842

2019

dbSNP: rs762551
rs762551
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.100 GeneticVariation BEFREE Participants were measured twice in a metabolic chamber for a day, four weeks apart, with outcomes including 22 h EE (8:30-6:30), substrate utilization from the respiratory quotient (RQ), plasma caffeine levels (16:00), and genotyping for the single-nucleotide polymorphism (SNP) rs762551. 31694152

2019

dbSNP: rs762551
rs762551
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.100 GeneticVariation BEFREE Our findings do not support the hypothesis of an interaction between the GRIN2A-rs4998386 or CYP1A2-rs762551 polymorphism and caffeine intake in determining PD risk. 29318639

2018

dbSNP: rs762551
rs762551
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.100 GeneticVariation BEFREE Specifically, the rs762551 SNP in the CYP1A2 gene has been demonstrated to influence caffeine metabolism, with carriers of the C allele considered to be of a 'slow' metaboliser phenotype. 29569539

2018

dbSNP: rs762551
rs762551
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.100 GeneticVariation BEFREE The effects of caffeine on basketball performance were established according to players' CYP1A2 genotype (rs762551): AA homozygotes (n = 10) and C-allele carriers (n = 9). 29668752

2018

dbSNP: rs762551
rs762551
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.100 GeneticVariation BEFREE The association between the single nucleotide polymorphism rs762551 in the cytochrome P450 family 1, subfamily A2 gene (CYP1A2) and caffeine consumption remains controversial. 27173183

2016

dbSNP: rs762551
rs762551
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.100 GeneticVariation BEFREE The observed increased risk of PD among female but not male carriers of the rs762551 polymorphism of CYP1A2 and the interactions of caffeine with ESR1 rs3798577 and ESR2 rs1255998 may provide clues to explain the relationship between gender, caffeine intake, estrogen status and risk of PD and need to be replicated. 20304699

2010

dbSNP: rs762551
rs762551
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.100 GeneticVariation BEFREE We collected information on lifetime coffee drinking and we studied two genes: ADORA2A, which encodes the major receptor activity of caffeine in the brain (variants rs5751876 and rs3032740), and CYP1A2, which encodes the major rate-limiting step of caffeine metabolism (variants rs35694136 and rs762551). 18759349

2008

dbSNP: rs5751876
rs5751876
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.070 GeneticVariation BEFREE This study aimed to examine whether functional single nucleotide polymorphisms (SNPs) in 1976T > C (ADORA2A; rs5751876) and -163C > A (CYP1A2; rs762551) influence the effect of caffeine on the postprandial glucose (GLU) response to a carbohydrate meal. 31324842

2019

dbSNP: rs5751876
rs5751876
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.070 GeneticVariation BEFREE ADORA2A has been shown to be responsible for the wakefulness-promoting effect of caffeine and the 1976T>C genotype (SNP rs5751876, formerly 1083T>C) to contribute to individual sensitivity to caffeine effects on sleep. 31817803

2019

dbSNP: rs5751876
rs5751876
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.070 GeneticVariation BEFREE The association between caffeine consumption and objective sleep variables is dependent on ADORA2A c.1083T>C genotypes. 28215251

2017

dbSNP: rs5751876
rs5751876
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.070 GeneticVariation BEFREE We collected information on lifetime coffee drinking and we studied two genes: ADORA2A, which encodes the major receptor activity of caffeine in the brain (variants rs5751876 and rs3032740), and CYP1A2, which encodes the major rate-limiting step of caffeine metabolism (variants rs35694136 and rs762551). 18759349

2008

dbSNP: rs5751876
rs5751876
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.070 GeneticVariation BEFREE At the 150 mg dose of caffeine, we found a significant association between caffeine-induced anxiety (Visual Analog Scales, VAS) and ADORA2A rs5751876 (1976C/T), rs2298383 (intron 1a) and rs4822492 (3'-flank), and DRD2 rs1110976 (intron 6). 18305461

2008

dbSNP: rs5751876
rs5751876
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.070 GeneticVariation BEFREE We examined whether genetic variability in caffeine metabolism [cytochrome P450 1A2 (CYP1A2) -163A-->C] or the main target of caffeine action in the nervous system [adenosine A(2A) receptor (ADORA2A) 1083C-->T] is associated with habitual caffeine consumption. 17616786

2007

dbSNP: rs5751876
rs5751876
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.070 GeneticVariation BEFREE Here we show in humans that (1) habitual caffeine consumption is associated with reduced sleep quality in self-rated caffeine-sensitive individuals, but not in caffeine-insensitive individuals; (2) the distribution of distinct c.1083T>C genotypes of the adenosine A2A receptor gene (ADORA2A) differs between caffeine-sensitive and -insensitive adults; and (3) the ADORA2A c.1083T>C genotype determines how closely the caffeine-induced changes in brain electrical activity during sleep resemble the alterations observed in patients with insomnia. 17329997

2007

dbSNP: rs2470893
rs2470893
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.030 GeneticVariation BEFREE Caffeine intake allele score (rs4410790 + rs2470893) was associated with a 42% higher coffee intake. 28031317

2016

dbSNP: rs2470893
rs2470893
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.030 GeneticVariation BEFREE However, when excluding smokers and users of hormonal contraceptives, 89% of caffeine AUC variation was due to genetic effects and, even in the entire group, 8% of caffeine AUC variation could be explained by a CYP1A1/1A2 promotor polymorphism (rs2470893). 27509179

2016

dbSNP: rs2470893
rs2470893
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.030 GeneticVariation BEFREE We examined whether these SNPs (AHR: rs6968865 and rs4410790; CYP1A1-CYP1A2: rs2472297 and rs2470893) and 6 additional tag SNPs in the AHR gene were associated with habitual caffeine consumption in a Costa Rican population. 22854411

2012

dbSNP: rs2472297
rs2472297
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.030 GeneticVariation BEFREE We used two genetic variants robustly associated with caffeine intake (rs4410790 and rs2472297) as proxies for coffee consumption in a sample of 46,687 men of European ancestry from 25 studies in the PRACTICAL consortium. 27741566

2017

dbSNP: rs2472297
rs2472297
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.030 GeneticVariation BEFREE Including international consortia, odds ratios per caffeine intake allele for ischaemic heart disease were 1.00 (0.98-1.02) for rs4410790, 1.01 (0.99-1.03) for rs6968865, 1.02 (1.00-1.04) for rs2470893, 1.02 (1.00-1.04) for rs2472297 and 1.03 (0.99-1.06) for rs2472299. 28031317

2016

dbSNP: rs2472297
rs2472297
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.030 GeneticVariation BEFREE Compared with subjects who consumed <100 mg caffeine/d, subjects who consumed >400 mg caffeine/d were more likely to be carriers of the T, C, or T allele for rs6968865, rs4410790, and rs2472297, respectively. 22854411

2012

dbSNP: rs4410790
rs4410790
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.030 GeneticVariation BEFREE We used two genetic variants robustly associated with caffeine intake (rs4410790 and rs2472297) as proxies for coffee consumption in a sample of 46,687 men of European ancestry from 25 studies in the PRACTICAL consortium. 27741566

2017