SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Mutation G1691A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 8 clinical trials

Clinical Trials


1 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 Detection and Genotyping of Factor V and Factor II 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 ---


2 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 Premature Thrombosis 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

3 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 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 ---


4 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 Acute Coronary Syndrome Platelet Thrombus Bleeding 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 (95 ≤ VerifyNow P2Y12 Reaction Unit ≤ 208)

Measure: Percentage of patients showing the optimal therapeutic zone

Time: 1 month

Secondary Outcomes

Description: BARC Definition for bleeding: defined as type 1, 2, 3 (3a, 3b and 3c), 4, 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 (type 2 + 3 + 5 or type 1+ 2 + 3 + 4+ 5)

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 275 PRU is associated with the risk of ischemic event in Asians. LPR will be based on the data of the A-MATCh trial.

Measure: Percentage of patietns to match 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

5 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 Portal Hypertension 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

6 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 Infertility Low Molecular Weight Heparin 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

7 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 Stable Angina Drug: clopidogrel 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

8 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 Recurrent Miscarriage 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


HPO Nodes


HP:0000822: Hypertension
Genes 411
PLIN1 SMARCAL1 LIMK1 SDCCAG8 ELP1 TSC2 FMR1 CPOX GNAS COX1 SH2B3 LYZ CLCN2 NF1 NOTCH3 ARL6 EDA2R ELN APOA1 CTLA4 CC2D2A MLX FGFR2 ADA2 TRNC MMP14 MTRR BANF1 GLA TRNK TRNL1 CCR6 GPC3 CYP11B2 ERCC8 TRIM32 CFH ACVRL1 COL3A1 LRP6 TRNK XYLT2 CFI CALR ITGA8 SLC37A4 SUGCT GBA NF1 CD46 WT1 WRN KLHL3 BBS4 THPO SDHA POU6F2 ABCG8 CORIN NFIX PDE8B NOD2 ARVCF INVS PRKAR1A RET GLA SLC25A11 SCNN1A TRIM28 TRNQ OFD1 B2M WT1 TNFRSF11B ARMC5 FGFR2 HLA-DPB1 PPARG EDA TP53 BNC2 ALX4 LMX1B NPHP1 ACAT1 ACTA2 GNAS GTF2IRD1 SDHC UFD1 ENPP1 GATA5 LEMD3 MYH11 HGD SDHD RET RFC2 IRF5 KCNJ5 LDLR ERCC6 DLST REST CAV1 GANAB BBS10 SMAD3 TET2 TRNW MUC1 POU3F4 OFD1 ADA2 SDHB ERCC4 BBS9 CD2AP LMNA CYP11B1 MEF2A MMP2 CLIP2 COL4A3 ELN COMT HPSE2 BBS2 XYLT1 PRKACA JMJD1C SMAD4 VANGL1 G6PC WNK4 DIS3L2 TMEM70 HBB ENPP1 MAFB LZTFL1 TRNS2 PKD2 USP8 HIRA TRIP13 DNAJB11 FBN1 TGFBR1 CFHR1 SH2B3 PKD1 LMNA PRKAR1A SDHB SCN2B PRTN3 NR3C2 WDR35 MDH2 DNMT3A ELP1 ALMS1 ELN TRNL1 IQCB1 RET MKKS YY1AP1 LARS2 AIP TBX1 TGFBR2 SPRY2 FBN1 NOTCH1 ABCB6 PRKACA MTTP MYLK ARL6 ABCC6 TRAF3IP1 COL5A2 RET STOX1 H19 LEMD3 FGA TMEM67 SEC24C MAX CYP11B1 SLC25A11 ND6 KIF1B ACTN4 ADA2 HSD11B2 DYRK1B NPHP1 BMPR2 PDE3A ND1 TTC8 JAK2 MGP NOTCH2 VHL SDHB SDHAF2 VHL MYMK NPHP3 ABCC6 TGFBR3 PPARG ALMS1 SMAD6 TRPC6 CCDC28B TMEM127 VHL TNFRSF11A SCNN1B BBS5 SCNN1B ARHGAP31 APOB SDHD SDHD PDE3A GDNF RREB1 CYP11B1 ECE1 TMEM237 TRNE SDHC FH YY1AP1 LMNA TGFB2 COX3 GPR101 CYP17A1 BRCA2 THBD LMX1B WNK1 LRIG2 FIG4 CEP290 HLA-DRB1 XPNPEP3 CCND1 MKS1 ACTA2 FUZ COL4A3 CYTB SMAD4 LMNA TRNV SLC2A10 FBN1 PRKG1 COQ7 MLXIPL KIF1B AIP FLT1 SERPINA6 CFB PLIN1 HLA-B NKX2-5 WT1 PKD1 EGFR MC4R EPAS1 SLC2A10 GCH1 BAZ1B NSMCE2 VHL PCSK9 KRT8 WT1 WDPCP TRNK PKD2 APRT HLA-DPA1 MPL COL4A5 KCTD1 SDHD TRIM28 GP1BB THSD1 BBS12 CEP290 FMO3 CYP21A2 CUL3 NPHP4 PKHD1 BICC1 COL4A4 BSCL2 NR3C1 WT1 GANAB C3 COX2 TRNF IFT27 GTF2I STAT1 SDCCAG8 PAM16 MFAP5 LOX IL12B SLC37A4 LDLRAP1 MYH7 BBS7 TGFB3 CBS ARMC5 CEP164 ADAMTSL4 INVS CDH23 COL5A1 CACNA1D LMNA PTPN22 SCNN1A SDHB ABCG5 TBX1 FN1 TMEM127 BBS1 CYP17A1 FN1 RPGRIP1L AIP PHF21A CACNA1H POR ND5 ENG BBS1 PDE11A EXT2 COL1A1 GUCY1A1 TSC1 FBN1 TBL2 HMBS HMBS C8ORF37 NR3C1 FOXF1 PRKAR1A NPHP1 CEP19 KRT18 MAX ABCC6 VAC14 KIF1B KCTD1 TRNS1 HSD11B2 GJA1 SCNN1G KCNJ5 BBIP1 PDE11A ANGPTL6 CDH23 KCNJ5 MAT2A SMAD4 IDUA IFT172 CACNA1D WDR19 ZMPSTE24 CYP11B1 FOXE3 CCN2 GNAS SCNN1G GUCY1A1 NFU1 VHL USP8 CFHR3 NOS3 COL3A1 JAK2 OSGEP