SNPMiner Trials by Shray Alag


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Report for SNP rs2231142

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 The Effects of BCRP Q141K on Allopurinol Pharmacokinetics and Dynamics

Subjects will undergo a placebo and allopurinol phase to better understand the effects of the reduced function BCRP Q141K variant on allopurinol pharmacokinetics and pharmacodynamics.

NCT02956278 Chronic Gout Hyperuricemia Drug: Allopurinol Other: Placebo
MeSH: Hyperuricemia
HPO: Hyperuricemia

Inclusion Criteria: - self-identified as Asian/European ancestry - generally healthy with approved lab values for CBC,HFP,RFP, and uric acid - Subjects with the ABCG2 genotype, homozygous, heterozygous or homozygous for the major allele of rs2231142 will be recruited Exclusion Criteria: - vascular disease - renal impairment - medications/supplements that affect uric acid levels - pregnant or lactating women - prior history of allergic reaction to allopurinol or testing positive for HLA-B*5801 allele - risk of urinary or gastric retention or narrow-angle glaucoma - impaired hepatic function - evidence of anemia - evidence or diagnosis of congestive heart failure - smokers - subjects with a mutation other than rs2231142 in the ABCG2 genotype - subjects taking hormonal contraceptives or other hormonal medications - evidence of recreational drug use as determined by questionnaire Inclusion Criteria: - self-identified as Asian/European ancestry - generally healthy with approved lab values for CBC,HFP,RFP, and uric acid - Subjects with the ABCG2 genotype, homozygous, heterozygous or homozygous for the major allele of rs2231142 will be recruited Exclusion Criteria: - vascular disease - renal impairment - medications/supplements that affect uric acid levels - pregnant or lactating women - prior history of allergic reaction to allopurinol or testing positive for HLA-B*5801 allele - risk of urinary or gastric retention or narrow-angle glaucoma - impaired hepatic function - evidence of anemia - evidence or diagnosis of congestive heart failure - smokers - subjects with a mutation other than rs2231142 in the ABCG2 genotype - subjects taking hormonal contraceptives or other hormonal medications - evidence of recreational drug use as determined by questionnaire Chronic Gout Hyperuricemia Hyperuricemia null

Primary Outcomes

Measure: Allopurinol/Oxypurinol Renal Clearance

Time: as determined by blood/urine levels taken over the course of one week

Measure: Uric Acid Levels

Time: as determined by blood/urine levels taken over the course of one week

Secondary Outcomes

Measure: Allopurinol/Oxypurinol steady state concentrations

Time: as determined by blood/urine levels taken over the course of one week

Measure: Allopurinol/Oxypurinol AUC

Time: as determined by blood levels taken over the course of one week

2 Federal Cardiomonitoring System. Determination of the Efficiency of a Single-lead ECG Recorded With CardioQVARK Cardiac Monitor in Order to Detect Atrial Fibrillation in Primary Health Centers.

This interventional prospective multicenter nonrandomized clinical and epidemiological study is the first Russian study aimed at evaluating the effectiveness of a single-lead electrocardiography device (CardioQVARK) in screening for atrial fibrillation in primary health care.

NCT04204330 Atrial Fibrillation Device: CardioQvark cardiac monitor and software, single-lead ECG
MeSH: Atrial Fibrillation
HPO: Atrial fibrillation Paroxysmal atrial fibrillation

For new oral anticoagulants - rs2244613 of the gene CES1, rs1045642 (C3435T), rs1128503 (C1236T), rs2032582 (G2677T / А) of the gene ABCB1, rs2231142 (С421А, Q141K) of the gene ABCG2, rs776746 (A6986G * 399 CYP3 CYP3) CYP3A4.. Inclusion Criteria: Men and women aged 18 to 96 years who have one or more of the following risk factors: - hypertonic disease - history of ischemic stroke or transient ischemic attacks - type 1 and type 2 diabetes - 1-3 degrees obesity - heart failure or the presence of a clinic to reduce exercise tolerance associated with shortness of breath - coronary heart disease or the presence of symptoms of chest pain, in the absence of an established diagnosis of coronary heart disease - the presence of peripheral arterial atherosclerosis - the presence of a clinic of interruptions in the work of the heart (bouts of rapid, irregular heartbeats, pauses in work of heart) Non-inclusion criteria: - Acute coronary syndrome - Acute ischemic or hemorrhagic stroke - Acute psychosis - The presence of severe concomitant diseases with an expected life expectancy of less than 2 years Exclusion Criteria: Refusal of further participation in the study Inclusion Criteria: Men and women aged 18 to 96 years who have one or more of the following risk factors: - hypertonic disease - history of ischemic stroke or transient ischemic attacks - type 1 and type 2 diabetes - 1-3 degrees obesity - heart failure or the presence of a clinic to reduce exercise tolerance associated with shortness of breath - coronary heart disease or the presence of symptoms of chest pain, in the absence of an established diagnosis of coronary heart disease - the presence of peripheral arterial atherosclerosis - the presence of a clinic of interruptions in the work of the heart (bouts of rapid, irregular heartbeats, pauses in work of heart) Non-inclusion criteria: - Acute coronary syndrome - Acute ischemic or hemorrhagic stroke - Acute psychosis - The presence of severe concomitant diseases with an expected life expectancy of less than 2 years Exclusion Criteria: Refusal of further participation in the study Atrial Fibrillation Atrial Fibrillation This is an interventional, prospective, multicenter, nonrandomized clinical and epidemiological study.

Primary Outcomes

Description: Total number of AF cases newly diagnosed during the study period.

Measure: Total number of AF cases newly diagnosed during the study period.

Time: Through study completion, an average of 1 year

Description: Number of patients who, for the first time ever, were assigned to anticoagulation therapy.

Measure: Number of patients who, for the first time ever, were assigned to anticoagulation therapy.

Time: Through study completion, an average of 1 year

Description: Assessed using data obtained from pharmacokinetic analysis. International normalised ratio (INR) - target range from 2 to 3.

Measure: Compliance to anticoagulation therapy for warfarin.

Time: 6 months after administration of anticoagulants

Description: Assessed using data obtained from pharmacokinetic analysis. Quantitative determination of the concentration of drugs in the blood (blood sampling three hours after taking the drug).

Measure: Compliance to anticoagulation therapy for new oral anticoagulants.

Time: 6 months after administration of anticoagulants

Description: Evaluated as incremental cost-effectiveness ratio of screening per quality adjusted life year gained, and per stroke avoided.

Measure: Cost-effectiveness of using the single-lead CardioQVARK ECG device in screening for AF in primary health care.

Time: Through study completion, an average of 1 year

Secondary Outcomes

Description: Mean time to diagnosis.

Measure: Mean time to diagnosis.

Time: Through study completion, an average of 1 year

Description: Number of patients with a CHA₂DS₂-VASc score (the CHA2DS2-VASc Score is the most commonly utilized method to predict thromboembolic risk in atrial fibrillation) of ≥ 1.

Measure: Number of patients with a CHA₂DS₂-VASc score (the CHA2DS2-VASc Score is the most commonly utilized method to predict thromboembolic risk in atrial fibrillation) of ≥ 1.

Time: Through study completion, an average of 1 year

Description: Number of patients with a CHA₂DS₂-VASc score (the CHA2DS2-VASc Score is the most commonly utilized method to predict thromboembolic risk in atrial fibrillation) of ≥ 2.

Measure: Number of patients with a CHA₂DS₂-VASc score (the CHA2DS2-VASc Score is the most commonly utilized method to predict thromboembolic risk in atrial fibrillation) of ≥ 2.

Time: Through study completion, an average of 1 year

Description: Defined as frequency of ischemic stroke or transient ischemic attack in patients with newly diagnosed AF and assigned anticoagulants.

Measure: Incidence of ischemic stroke or transient ischemic attack after enrollment in the study.

Time: Through study completion, an average of 1 year

Description: Defined as frequency of massive hemorrhage in patients with newly diagnosed AF and assigned anticoagulants.

Measure: Incidence of massive hemorrhage after enrollment in the study.

Time: Through study completion, an average of 1 year

Description: Defined as frequency of hemorrhagic stroke in patients with newly diagnosed AF and assigned anticoagulants.

Measure: Incidence of hemorrhagic stroke after enrollment in the study.

Time: Through study completion, an average of 1 year

Description: For warfarin - CYP2C9 (CYP2C9 * 2, CYP2C9 * 3), VKORC1 (1 marker), CYP4F2 (1 marker), GGCX (1 marker). For new oral anticoagulants - rs2244613 of the gene CES1, rs1045642 (C3435T), rs1128503 (C1236T), rs2032582 (G2677T / А) of the gene ABCB1, rs2231142 (С421А, Q141K) of the gene ABCG2, rs776746 (A6986G * 399 CYP3 CYP3) CYP3A4.

Measure: Pharmacogenetic testing by polymorphic markers

Time: 6 months after administration of anticoagulants


HPO Nodes


Hyperuricemia
Genes 38
HPRT1 ALMS1 MYC HMGCL PFKM TNFRSF11B ALDOB HMGCL ACAT1 PPARG UMOD UMOD HNF1B PRPS1 PHKG2 HPRT1 REN G6PC CLDN16 SLC37A4 PHKA2 SARS2 PPARG SH2B1 HPRT1 TNFRSF11A PFKM HNF4A ALDOB HPRT1 EIF2AK3 TNFRSF11B SEC61A1 UMOD SLC37A4 FBP1 HNF1B MUC1
Paroxysmal atrial fibrillation
Genes 12
KCNJ5 SCN5A CSRP3 KCNA5 KCNJ2 SCN2B MYL4 ABCC9 TBX5 KCNE2 SCN1B PRKAG2