SNPMiner Trials by Shray Alag


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Report for SNP rs762551

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Can Including Genotype Information Increase the Effectiveness of Dietary Interventions? Polymorphism of the CYP1A2 Gene and Caffeine Intake in Healthy Adults

Personalized nutrition is one of the most up to date trends in human nutrition and gains much interest of general public and scientists as well. Although we have gained some knowledge on gene-trait associations, the real effectiveness and usefulness of genotype-based nutritional recommendations is unknown. Many personalized nutrition companies are on the market today, some of them use personalized nutrition based on genotype analysis. For this reason, scientific basis of this approach should be clarified. Moreover, the effect of using genotype information in dietary interventions aimed at decreasing caffeine intake has never been tested. Our project can thus increase knowledge which can be applied in dietary counseling practice. Although we focus on caffeine intake, the study is designed as a proof of concept.

NCT04122053 CYP1A2 Polymorphism Behavioral: Intervention group with genotype information Behavioral: Control group without genotype information

genotyping for CYP1A2 polymorphism (rs762551); assessment of possible genotypes (AA, AC, CC) will be performed with the use of TaqMan probes.

Primary Outcomes

Description: caffeine intake (mg/day)

Measure: Caffeine intake level from dietary sources

Time: 8 weeks

Description: genotyping for CYP1A2 polymorphism (rs762551); assessment of possible genotypes (AA, AC, CC) will be performed with the use of TaqMan probes

Measure: frequency of minor allel

Time: Baseline

Secondary Outcomes

Description: Changes in BM (kg) within groups and between groups

Measure: body mass(BM)

Time: Baseline, 8 weeks

Description: FFM changes within (kg) groups and between groups

Measure: Fat Free Mass (FFM)

Time: Baseline, 8 weeks

Description: FM% changes within groups and between groups

Measure: Fat Mass% (FM%)

Time: Baseline, 8 weeks

Description: Changes in TChol (mg/dl) within groups and between groups

Measure: Total cholesterol (TChol)

Time: Baseline, 8 weeks

Description: HDL-C (mg/dl) concentrations change within the group and between the groups

Measure: Blood HDL-cholesterol (HDL-C)

Time: Baseline, 8 weeks

Description: LDL-C (mg/dl) concentrations change within the group and between the groups

Measure: Blood LDL-cholesterol (LDL-C)

Time: Baseline, 8 weeks

Description: TAG (mg/dl) concentrations change within the group and between the groups

Measure: Blood triacylglycerol (TAG)

Time: Baseline, 8 weeks

Description: GLU (mg/dl) concentrations change within the group and between the groups

Measure: Blood glucose (GLU)

Time: Baseline, 8 weeks

Description: INS (ulU/ml) concentrations change within the group and between the groups

Measure: Insulin (INS)

Time: Baseline, 8 week

Description: macro and micronutrient intake (g,mg,ug)

Measure: Dietary intake

Time: Baseline

Description: ASPAT [U/l] Changes within groups and between groups

Measure: aspartate aminotransferase (ASPAT)

Time: Baseline, 8 weeks

Description: ALAT [U/l] Changes within groups and between groups

Measure: Alanine transaminase (ALAT)

Time: Baseline, 8 weeks

Description: WC (cm) Changes within groups and between groups

Measure: waist circumference (WC)

Time: Baseline, 8 weeks

Description: HC (cm) changes within groups and between groups

Measure: hips circumference (HC)

Time: Baseline, 8 weeks

2 Clinical and Genetic Influencing Factors on Clozapine Pharmacokinetics in Schizophrenic Patients

Clozapine (Clz), an atypical antipsychotic, is the reference medication for patients with treatment-resistant schizophrenia. Due to the high inter-individual variability of its pharmacokinetics and its narrow therapeutic index, a close therapeutic drug monitoring (TDM) of Clz is highly recommended. Several factors can cause a variation in the pharmacokinetics as age, smoking habits, coffee consumption and drug interaction. Genetic factors related to hepatic expression levels of the cytochrome P450 (CYP), regulate the hepatic clearance of Clz, thereby determine its bioavailability. The CYP1A2 and CYP2C19 isoenzymes are mainly responsible for the metabolism of several drugs including Clz. It has been demonstrated that there is an interethnic variation in the expression and function of these two isoenzymes. This variation is caused by single nucleotide polymorphisms (SNPs) of genes encoding these proteins. While the Influence of the different polymorphisms related to CYP1A2 and CYP2C19 have been established especially in Asian and Caucasian populations, no study has examined the impact of these SNPs in the southern Mediterranean populations. Moreover, the impact of these SNPs is very controversial. The present study aims to investigate in Tunisian schizophrenic patients, the influence of genetic (CYP1A2 and CYP2C19 polymorphisms) and non-genetic factors on Clz pharmacokinetics.

NCT04240496 CYP1A2 Polymorphism CYP2C19 Polymorphism Clozapine Schizophrenia Other: Determination of plasma concentration of clozapine/ Genotyping
MeSH: Schizophrenia
HPO: Schizophrenia

Determination of the correlation between the presence of CYP1A2*1F (rs762551;-163C> A), CYP1A2*1C (rs2069514;-3860 G> A) and CYP 2C19*2 (rs4244285; 681G>A) and the variability of C0/Daily dose.. - Technique: PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism).

Primary Outcomes

Description: Technique : HPLC/UV (high-performance liquid chromatography associated with a UV detector)

Measure: Determination of trough plasma concentration of clozapine (C0)

Time: One and a half months

Secondary Outcomes

Description: - Technique: PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism)

Measure: Determination of the correlation between the presence of CYP1A2*1F (rs762551;-163C> A), CYP1A2*1C (rs2069514;-3860 G> A) and CYP 2C19*2 (rs4244285; 681G>A) and the variability of C0/Daily dose.

Time: One and a half months


HPO Nodes


Schizophrenia
Genes 71
USH1C RTN4R USH1G HIRA UPF3B GJA5 DNAJC13 DNMT3A KRT86 HTR2A APOL4 CLRN1 DRD3 CEP78 ARSG MSTO1 TRNE PRODH RREB1 GIGYF2 PDZD7 MTHFR RBM12 ADGRV1 NKX2-1 TRNS2 KRT83 SNCA MYO7A COMT CIB2 PCDH15 WHRN TBX1 GP1BB DSG4 ZDHHC9 ARSA ARVCF WFS1 PRODH PSAP APOL2 SEC24C KRT81 LRRK2 CHI3L1 MYO7A ATP2A2 SHANK3 SYN2 EIF4G1 CHRNA7 GBA FLI1 MED12 VPS35 JMJD1C MSTO1 USH2A AKT1 GJA8 TBX1 COMT UFD1 PRODH DISC2 TBX1 HARS1 CDH23 DAOA