SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation G1691A

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There are 8 clinical trials

Clinical Trials


1 Downstream Molecular Signals of P2Y12 Receptors in Hyporeactive Patients Under Clopidogrel Treatment (A Possible Mechanism of HOTPR:High On- Treatment Platelet Reactivity)

The investigators designed the following experiment to observe the pattern of administration in vitro, which can be completely excluded liver enzyme cytochrome P450 metabolism under the influence and observe the relevant P2Y12 receptor downstream signal changes, hope in the above experiments, that the human body directly for the difference between the existence of drug reactions exist.

NCT03190005
Conditions
  1. Stable Angina
Interventions
  1. Drug: clopidogrel
  2. Drug: Placebos
MeSH:Angina, Stable

The investigators ran a previous related plan within 2014 under the medical study project budget of the Taipei City hospital, which named "platelet reactivity as a post-percutaneous coronary stent implantation antiplatelet adjust the reference", it has been figured that responsibility under the P2Y12 receptor inhibitors were significantly different between the taiwanese and Caucasians (taiwanese revealed clopidogrel lower responsive, but stronger reaction to ticagrelor), although "low" response to clopidogrel between taiwanese (In fact, according to our experiments, 30 days after medication, the rate of HOTPR-High On- Treatment Platelet Reactivity; namely PRU≥208, the taiwanese and Caucasians are very close to each), but it has relative lower subacute stent thrombosis rate than the Caucasian at 30 days(This reaction is also known as the "Asian paradox" ), according to literature known abroad because of the high prevalence of CYP2C19 point gene deletion rate among the Asians (compare with Caucasians: ~ 65% vs ~ 30%); there also suggested other possible explanations: Caucasian factor V Leiden (G1691A) and prothrombin (G20210A) a higher proportion of mutations, on hemostatic factors (fibrinogen, d-dimer, and factor VIII) and plasma endothelial activation markers (such as von Willebrand factor, intercellular adhesion molecule 1, and E-selectin) existed differences between the races; in addition, a number of different indicators of inflammation, such as CRP. --- G1691A ---

Primary Outcomes

Description: PRU(Platelet Rreactivity Unit) 24 hours after DAPT(Dual AntiPlatelet Therapy) Western blot after medication

Measure: PRU(Platelet Rreactivity Unit) 24 Hours After DAPT(Dual AntiPlatelet Therapy) Western Blot After Medication

Time: 24 hours

2 The Role of Prothrombin Gene and Methylenetetrahydrofolate Reductase(MTHFR) Gene Polymorphisms as Risk Factors for Recurrent Miscarriage

Recurrent miscarriage is a pregnancy loss before 20 weeks of gestation. The recurrent pregnancy loss(RPL) usually occurring in the first trimester of gestation and its rate is quite high (15-20% even in full reproductive period) . In 2012, the American Society for Reproductive Medicine Practice Committee issued a statement that defined recurrent pregnancy loss as a disease distinct from infertility defined by two or more failed consecutive pregnancies.approximately 40% of couples will have an etiology identified that could be associated with their loss.

NCT03209063
Conditions
  1. Recurrent Miscarriage
Interventions
  1. Diagnostic Test: polymerase chain reaction
MeSH:Abortion, Spontaneous Abortion, Habitual
HPO:Spontaneous abortion

40% of couples will have an etiology identified that could be associated with their loss.Thrombophilia is the tendency to develop thromboses due to inherited defects in the coagulation system.Thrombophilia was identified as a major cause of RPL,Because pregnancy is a hypercoagulable state, thromboembolism is the leading cause of antepartum and postpartum maternal mortality .The four most common genetic markers for thrombophilia are; prothrombin gene mutation(FII, G20210A), methylene tetra hydrofolate reductase mutations (MTHFR ,C677T and A1298C), factor V Leiden (FVL, G1691A) , and plasminogen activator inhibitor 1 (PAI-1) . --- G20210A --- --- C677T --- --- A1298C --- --- G1691A ---

Primary Outcomes

Description: using polymerase chain reaction Polymerase chain reaction

Measure: The study will compare the percentage of prothrombin gene and MTHFR gene polymorphisms in cases with recurrent miscarriage and healthy control group.

Time: 2 days

3 VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System

As an external validation test of the performance of the VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System, clinical trials will be conducted at three sites. This study will assess genotyping accuracy as compared to bidirectional sequencing and genotyping reproducibility across variables such as user, day, and site.

NCT00959504
Conditions
  1. Detection and Genotyping of Facto
  2. Detection and Genotyping of Factor V and Factor II Point Mutations

Detection of Factor V Leiden G1691A and Factor II (Prothrombin) G20210A Point Mutations in DNA As an external validation test of the performance of the VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System, clinical trials will be conducted at three sites. --- G1691A ---


4 Thrombophilic Risk Factors in Preterm and Infants Treated at Ha'Emek Medical Center Between the Years 1990 to 2010

There are several factor that can be related to Neonatal Thrombotic events. Among them hypercoagulability can be the cause of those events. Factor V Leiden (FVL) and Prothrombin mutation are the most common causes of hereditary thrombophilia. The incidence of in the arab population is known to be higher than the incidence in another western populations. The purpose of this study is to review retrospectively the thrombophilic risk factors that were found in a cohort of premature babies and term newborns treated and investigated at the Neonatal Intensive Care Unit and at the Pediatric Hematology Unit.

NCT01443273
Conditions
  1. Premature
  2. Thrombosis
Interventions
  1. Other: Medical Records study
MeSH:Thrombosis

Also the three common genetic factors are analysed including Factor F Leiden (G1691A), Prothrombin Mutation (G20210A) and MTHFR polymorphism (C677T). --- G1691A ---

Primary Outcomes

Description: Recruitment of all premature and term infants born at Emek Medical Center and suffer from thrombotic events.

Measure: The frequency of thrombophilic risk factors in preterms and infants

Time: One year

5 Effectiveness of Aspirin in Compare With Heparin Plus Aspirin in Recurrent Pregnancy Loss Treatment

This study evaluated the effect of anticoagulant treatment on the live-birth rate in women with a history of at least two continuous unexplained miscarriages or thrombophilia. It also compared two methods of treatment with aspirin and aspirin plus heparin.

NCT01542411
Conditions
  1. Recurrent Pregnancy Loss
MeSH:Abortion, Habitual

Inclusion Criteria: - unexplained recurrent miscarriage, - women had previous venous or arterial thromboembolism or who were heterozygous or homozygous for mutations for FV Leiden G1691A, prothrombin gene G20210A (FII G20210A), and methyltetrahydrofolate reductase C677T (MTHFR C677T) Exclusion Criteria: - abnormal karyotypes of both partners, - uterine and cervical anatomical disorders on pelvic ultrasonography or hysteroscopy, - abnormal ovaries and abnormal endocrine tests. --- G1691A ---


6 Fixed-dose vs. Phenotype-based PrAsugrel Dose to MATCH Therapeutic Zone in Asians With Acute Coronary Syndrome

The purpose of this study is to determine whether the fixed-dose (prasugrel 10 mg/d vs. 5 mg/d) vs. phenotype (platlet function test by VerifyNow P2Y12 assay)-based prasugrel dose adjustment can match therapeutic zone of platelet reactivity in PCI-treated Asians with acute coronary syndrome

NCT01951001
Conditions
  1. Acute Coronary Syndrome
  2. Platelet Thrombus
  3. Bleeding
Interventions
  1. Drug: Prasugrel
MeSH:Acute Coronary Syndrome Syndrome

The convincing associations of arterial thrombosis to coagulation system and inflammation have been repeatedly demonstrated in multiple clinical trials: fibrinogen, factor V Leiden (G1691A) and prothrombin G20210A gene mutations, high-sensitivity C-reactive protein (CRP) and so on. --- G1691A ---

Primary Outcomes

Description: "Therapeutic zone" has been defined based on the previous clinical trials (85 ≤ VerifyNow P2Y12 Reaction Unit ≤ 208)

Measure: Proportion matching to the optimal therapeutic zone

Time: 1 month

Secondary Outcomes

Description: BARC Definition for bleeding: defined as type 1, 2, 3 (3a, 3b and 3c), and 5 (5a and 5b), according to the Bleeding Academic Research Consortium classification Type 1 (nuisance or superficial bleeding Type 2 (internal bleeding) Type 3a (TIMI minor bleeding) Type 3b (TIMI major bleeding) Type 3c (life threatening bleeding) Type 4 (CABG-related bleeding) Type 5a (probable fatal bleeding) Type 5b (definite fatal bleeding)

Measure: Prevalence of BARC bleeding

Time: 1 month

Description: "LPR" means "low on-treatment platelet reactivity", which can increase the risk of clinically serious bleeding

Measure: The cutoff of "LPR" in Asians

Time: 1 month

Description: Multiple clinical studies have shown that the cutoff of about 266 PRU is associated with the risk of ischemic event in Asians. LPR will be based on the data of the A-MATCh trial.

Measure: Proportion matching to Asian therapeutic zone of platelet reactivity

Time: 1 month

Other Outcomes

Description: MACE includes composite of CV death, non-fatal MI, stent thrombosis, stroke or ischemia-driven TVR

Measure: Composite of major adverse clinical events (MACE)

Time: 1 month

7 Weight Adjusted Low Molecular Weight Heparin in Recurrent Implantation Failure: a Randomized Open Labeled Trial

Prospective randomized study of patients with infertility candidates to Assisted ReproductiveTechniques (ART), screened for all inclusion and exclusion criteria, submitted to ART cycle with or without low molecular weight heparin (LMWH) administration. Aims of the study are to evaluate, primarily, pregnancy rate/embryo transfer, secondarily take home babies/embryo transfer, implantation rate, and the role of thrombophilic factors

NCT02991950
Conditions
  1. Infertility
  2. Low Molecular Weight Heparin
Interventions
  1. Drug: Parnaparin Sodium
MeSH:Infertility Body Weight
HPO:Infertility

All enrolled patients were previously screened for the presence or not of thrombophilic defects: protein C or protein S or AT deficiency, FV G1691A and FIIG20210A mutations, C677T MTHFR polymorphism,hyperhomocysteinemia, antiphospholipid antibodies. --- G1691A ---

Primary Outcomes

Description: the investigators measured the pregnancy rate/embryo transfer using betaHcg dosage 12 days after embryo transfer

Measure: pregnancy rate/embryo transfer

Time: 12-14 days

Secondary Outcomes

Description: Live birth was defined as delivery of one or more live infants after 23 gestational weeks.

Measure: take home babies/embryo transfer

Time: 38-40 weeks after embryo transfer

Description: ultrasound was performed to evaluate implantation rate calculated as as number of gestational sacs divided by number of transferred embryos multiplied by 100

Measure: implantation rate

Time: 3 weeks

Description: All enrolled patients were previously screened for the presence or not of thrombophilic defects: protein C or protein S or AT deficiency, FV G1691A and FIIG20210A mutations, C677T MTHFR polymorphism,hyperhomocysteinemia, antiphospholipid antibodies. The investigators excluded from the enrollment patients with severe thrombophilia: protein C, protein S, AT deficiency or homozygous FV Leiden and FIIG20210A mutations or double heterozygosity for FV Leiden and FIIG20120 mutations because in this patients the international guide lines suggest and recommend the use of antithrombotic prophylaxis

Measure: role of thrombophilia in interfering with pregnancy rate/take home baby/implantation rate

Time: 12-14 days and 38-40 weeks and 3 weeks

8 Risk Factors for Variceal Bleeding in Egyptian Patients With Non-Cirrhotic Portal Hypertension

Background & Aims: Non-cirrhotic portal hypertension (NCPH) represents a relatively infrequent group of conditions. This work aimed at determining causes of NCPH and evaluating the role of some clinical, laboratory, imaging and endoscopic parameters in prediction of variceal bleeding in an Egyptian cohort with NCPH. Methods: Sixty patients with non-cirrhotic portal hypertension and oesophageal varices were included. All underwent complete clinical evaluation, laboratory investigations, Color Doppler ultrasonography, platelet count/spleen diameter (mm) ratio and upper gastrointestinal endoscopy. Patients were classified into two groups according to variceal bleeding: (1) Group I: twenty six patients with history of bleeding or had an attack of bleeding during one year follow-up; and (2) Group II: thirty four patients without bleeding.

NCT02635815
Conditions
  1. Portal Hypertension
Interventions
  1. Procedure: Upper gastrointestinal endoscopy
MeSH:Hypertension, Portal Hypertension
HPO:Hypertension Portal hypertension

It was done only for patients with Budd-Chiari syndrome and extrahepatic portal vein thrombosis: anticardiolipin antibodies, lupus anticoagulant, antinuclear antibodies, protein C, S, antithrombin III, factor V Leiden G1691A mutation, prothrombin gene G20210A mutation, methylene tetrahydrofolate reductase C677T mutation by PCR, Janus tyrosine kinase-2 (JAK II) V617F mutation by PCR (to exclude myeloproliferative disorders) and flow cytometry for CD55 and CD59 (to exclude paroxysmal nocturnal hemoglobinuria); (4) Abdominal ultrasonography: for liver size, echogenicity, spleen size, portal vein diameter and ascites; (5) Color Doppler ultrasonographic study: was done in the morning after an overnight fasting using a color Doppler unit with a 3.5 MHz convex probe for confirmation of portal vein (PV) patency and diameter, mean PV flow velocity (mean PVV) (cm/sec), PV direction of flow, splenic vein patency and diameter, presence of portosystemic collaterals and patency of hepatic veins; (6) Platelet count/spleen diameter ratio: calculated as: platelet count/ maximum spleen bipolar diameter by ultrasound in mm; (7) Ultrasonography guided liver biopsy: for diagnosis of NCPH and exclusion of cirrhotic portal hypertension; and (8) Upper gastrointestinal endoscopy using the Pentax video endoscope EG 3440. --- G1691A ---

Primary Outcomes

Measure: The presence or absence of variceal bleeding within one year of follow up.

Time: 1 year


HPO Nodes


HP:0000822: Hypertension
Genes 424
MAT2A WT1 LMNA HGD FN1 TRNL1 SERPINA6 YY1AP1 TRNK BBIP1 GTF2IRD1 TRNC KCNJ5 CLCN2 MGP TGFBR2 BBS1 CYP11B2 RET ARVCF KCNJ5 EGFR OSGEP SH2B3 TRNS2 SLC2A10 NKX2-5 LMNA RREB1 IFT172 LZTFL1 ND1 FBN1 FMO3 HLA-DPA1 GUCY1A1 APOB SCNN1G CEP164 BBS10 FUZ SDHB MUC1 REST ABCC6 TTC8 CLIP2 H19 ELN FGFR2 GATA5 PKD1 NF1 NPHP1 KCTD1 WNK4 HIRA GP1BB GNAS IRF5 EDA2R LMX1B NFU1 PLIN1 MEN1 SEC24C ELN GNAS COL3A1 NPHP1 SLC37A4 ERCC8 HLA-DPB1 NOTCH1 CFHR1 THSD1 SDCCAG8 DLST PKHD1 PPOX ACTN4 DNMT3A NOD2 SCNN1B C8ORF37 ECE1 XYLT1 ACTA2 GDNF CTLA4 PAM16 EPAS1 BBS4 ARL6 CCR6 DNAJB11 CDH23 ENPP1 WT1 DIS3L2 PKD2 MFAP5 GLA PKD2 NPHP1 TRNW NF1 IFT27 BANF1 CFI LMNA WNK1 WT1 ARHGAP31 SMARCAL1 FGFR2 STAT2 ACVRL1 CEP290 ADA2 NF1 SDHAF2 ENPP1 PRKAR1A IQCB1 PRTN3 TET2 SMAD6 XYLT2 NOD2 SDHD HPSE2 MYH11 SDHD COX1 PDE8B CAV1 C3 SMAD4 SCNN1G ELP1 USP8 EXT2 USP8 KIF1B SLC25A11 FBN1 CBS WDPCP BBS9 BRCC3 ACAT1 SPRY2 TRNF STAT1 SUGCT ELP1 SCNN1A GPR101 PPARG ZMPSTE24 MAX LRIG2 TRNS1 GJA1 ERCC8 BSCL2 CYP11B1 NPHP3 TRNE FIG4 CCND1 CD2AP KCTD1 TRAF3IP1 TRNK GBA TGFB2 CYTB HMBS GLA TRIM32 EDA SDHC TNFRSF11A LDLRAP1 MMP2 XPNPEP3 PKD1 KIF1B ABCC6 TRIM28 SDHB SDCCAG8 ALMS1 MAFB FN1 PTPN22 ACP5 ERCC4 LEMD3 CYP11B1 BBS7 SDHB LDLR SCNN1A NPHP4 KRT18 HSD11B2 CDKN1B CCN2 CUL3 GANAB PDE3A VANGL1 TSC2 ACTA2 PCSK9 CEP19 CFB SMAD4 MTTP COL4A5 LYZ FOXE3 IDS PRKG1 SLC37A4 PHF21A GUCY1A1 B2M RET INVS KCNJ5 PPARG WRN PLIN1 BMPR2 CDKN2C MMP14 VHL POU6F2 ELN COL4A3 CPOX ABCB6 CDH23 LMX1B THBD KIF1B SLC2A10 PDE11A JMJD1C CYP17A1 TRNK TBX1 IL12B COQ7 TBL2 TBX1 WDR19 LRP6 FMR1 SDHD CORIN RFC2 CACNA1H CYP11B1 MKKS ADA2 LIMK1 NOTCH3 MKS1 FLT1 BBS1 CACNA1D YY1AP1 CDKN2B ND6 LMNA MLX VAC14 PKHD1 TRIP13 PDE11A MEF2A IDS TRIM28 NDUFAF6 NOS3 TRNQ SDHB SDHC STOX1 SMAD3 ALX4 APRT LOX OFD1 IDUA TMEM127 COL3A1 AIP FBN1 LMNA CFH WT1 VHL NR3C1 CYP17A1 TSC1 ALMS1 SMAD4 POU3F4 FGA HMBS TP53 HBB ARMC5 BRCA2 SDHA CACNA1D ABCG5 RET UFD1 TREX1 NOTCH2 ABCC6 G6PC1 ARMC5 SCNN1B CCDC28B GTF2I JAK2 KLHL3 BBS5 MYH7 ERCC6 APOA1 TRNV TMEM127 TGFBR1 GNAS FBN1 ARL6 GCH1 COX2 MDH2 NFIX OFD1 AIP COL4A3 WDR35 ENG MAX CFHR3 TMEM70 NSMCE2 LARS2 LEMD3 ND5 CYP21A2 NR3C1 DZIP1L BNC2 VHL BICC1 ERCC6 PRKACA MC4R PRKACA ADA2 CYP11B1 INF2 HLA-DRB1 MYLK TGFB3 MTRR MYMK POR COL4A4 JAK2 SDHD SCN2B CEP290 ITGA8 FH DYRK1B TRPC6 HLA-B PRKAR1A MLXIPL BBS12 MDM2 MPL TMEM237 VHL BBS2 PDE3A NR3C2 KRT8 GPC3 PRKAR1A BAZ1B ERCC4 VHL TGFBR3 CDKN1A COMT WT1 SLC25A11 RET COX3 AIP ABCG8 HSD11B2 GANAB TMEM67 CD46 ADAMTSL4 TNFRSF11B ANGPTL6 INVS TRNL1