Genetics Research
rs12769205
Gene: CYP2C19 — Cytochrome P450 Family 2 Subfamily C Member 19
Chr 10:94775367
10q23.33
Intron Variant
Population Frequencies12
African
A 0.81278G 0.18722AA 0.65656AG/GA 0.312438GG 0.031001pop=26,386
African American
A 0.81296G 0.18704AA 0.657065AG/GA 0.311788GG 0.031148pop=25,620
African Others
A 0.807G 0.193AA 0.639687AG/GA 0.334204GG 0.02611pop=766
Asian
A 0.7108G 0.2892AA 0.50849AG/GA 0.404543GG 0.086966pop=8,716
East Asian
A 0.7045G 0.2955AA 0.500431AG/GA 0.408216GG 0.091353pop=6,962
European
A 0.861375G 0.138625AA 0.742793AG/GA 0.237163GG 0.020044pop=222,708
Latin American 1
A 0.856G 0.144AA 0.726476AG/GA 0.259048GG 0.014476pop=5,250
Latin American 2
A 0.89697G 0.10303AA 0.804045AG/GA 0.185844GG 0.010112pop=11,472
Other
A 0.84879G 0.15121AA 0.719931AG/GA 0.25771GG 0.022359pop=10,376
Other Asian
A 0.7355G 0.2645AA 0.540479AG/GA 0.389966GG 0.069555pop=1,754
South Asian
A 0.6585G 0.3415AA 0.438983AG/GA 0.438983GG 0.122034pop=1,180
Studies8
Unread Studies8 ▼
1
At least 500 genetic polymorphisms associated with the CYP2C19 and CYP2C18 enzymes have been identified, yet few polymorphisms have been measured in the Saudi population. Therefore, this study was aimed at determining the frequencies of numerous unmeasured CYP2C19 and CYP2C18 genetic variations, and their clinical and pharmacological implications, in KSA. A multicenter cross-sectional study was conducted to determine the frequency of 141 CYP2C19 and CYP2C18 genetic variants. Blood samples from 3…
2
Valproic acid (VPA) is commonly used to treat epilepsy and bipolar disorder, requiring therapeutic concentrations of 50-100 mg/L to balance efficacy and safety. Despite known clinical and genetic factors influencing VPA metabolism, integrated predictive models are limited. This study analyzed VPA concentrations in 497 samples from 275 Chinese participants, examining 23 clinical variables and 24 genetic SNPs. Participants were grouped by SNP profiles, with one cluster showing significantly e…
3
Anti-infective medicines are crucial for treating infections, but improper dosing can cause toxicity, resistance and treatment failure. Pharmacogenomics can address genetic variations affecting drug efficacy and safety. Despite the high burden of diseases like TB and HIV in Sri Lanka and South Asia, pharmacogenomic data for these populations are limited. This study aims to fill this gap by investigating pharmacogenomic variants in a South Asian population from Sri Lankan. Pharmacogenomic data on…
4
Single-nucleotide variants (SNVs) give rise to important inter-individual and inter-ethnic variabilities in the metabolism and disposition of several therapeutic agents and may cause differences in the treatment response to clinically important drugs like antiarrhythmics, antidepressants, antihistamines, and antipsychotics, among others. Information about the prevalence of variants in the Dominican Republic population is still limited. The aim of this study was to describe the frequency distribu…
5
Clopidogrel exhibits substantial variability in therapeutic response, largely contributed by genetic factors. The pharmacogenomic variants data on clopidogrel metabolism in South Asians have been sparsely studied. This study explores the impact of CYP2C19 and CES1 gene variants on clopidogrel metabolism in Sri Lankans, revealing significant pharmacogenomic insights with broader implications for South Asians. Genotype data were filtered out from an anonymized database of 690 Sri Lankans, and mino…
6
Fluoxetine is one of the most prescribed antidepressants, yet it still faces challenges due to high intersubject variability in patient response. Mainly metabolized by the highly polymorphic gene CYP2D6, important differences in plasma concentrations after the same doses are found among individuals. This study investigated the association of fluoxetine pharmacokinetics (PK) with pharmacogenetic variants. A bioequivalence crossover trial (two sequences, two periods) was conducted with fluoxetine…
7
The human genome contains millions of single nucleotide polymorphisms (SNPs); many of these SNPs are intronic and have unknown functional significance. SNPs occurring within intron branchpoint sites, especially at the adenine (A), would presumably affect splicing; however, this has not been systematically studied. We employed a splicing prediction tool to identify human intron branchpoint sites and screened dbSNP for identifying SNPs located in the predicted sites to generate a genome-wide branc…
8
CYP2C19 rs12769205 alters an intron 2 branch point adenine leading to an alternative mRNA in human liver with complete inclusion of intron 2 (exon 2B). rs12769205 changes the mRNA reading frame, introduces 87 amino acids, and leads to a premature stop codon. The 1000 Genomes project (http://browser.1000genomes.org/index.html) indicated rs12769205 is in linkage disequilibrium with rs4244285 on CYP2C19*2, but found alone on CYP2C19*35 in Blacks. Minigenes containing rs12769205 transfected into Hep…
Curated Studies0 ▼
These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.
No curated studies yet.
Unused Studies0 ▼
No unused studies.