SNPMiner Trials by Shray Alag


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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 Poi 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 418
PDE11A WT1 BBS10 TGFB2 COL1A1 KCTD1 MLX ND5 SCNN1A GPR101 TRNS2 B2M CFI NOTCH3 ALX4 TNFRSF11A GATA5 EXT2 LYZ MUC1 ERCC6 TRNL1 STOX1 COX3 PRKACA MTTP BSCL2 TRNS1 PKD2 KRT8 TRNL1 SLC2A10 CDH23 LEMD3 WT1 TBX1 TRIM28 KCTD1 ND1 CYTB WNK1 ELP1 WDR19 AIP COX2 LOX TGFBR2 GCH1 KRT18 SCNN1B CORIN UFD1 CFH SCNN1G HGD PDE11A COL4A4 BRCA2 NR3C1 CACNA1D LMNA FBN1 ND1 TRNQ VHL JMJD1C CBS RPGRIP1L TGFBR3 POR SDHD TRNS1 ALMS1 CACNA1H TSC1 LRP6 CD2AP FBN1 COX2 DYRK1B SEC24C ADA2 HPSE2 NF1 LDLRAP1 HLA-DRB1 WNK4 ACVRL1 CCND1 FBN1 VHL GLA PDE3A ABCG8 SH2B3 MMP2 SLC52A2 ARMC5 SLC25A11 ERCC4 BBIP1 PAM16 HLA-DPA1 PDE8B ACAT1 LMNA GLA GUCY1A1 MAFB DIS3L2 COL5A2 NKX2-5 CYP11B1 TRNL1 BBS1 FGFR2 LEMD3 MYH7 PPARG FLT1 FN1 COMT MYMK MTRR FOXF1 FN1 CFB MKKS SDHD CYP11B1 MGP SDCCAG8 GJA1 SH2B3 CYP17A1 SUGCT TGFB3 COX1 ANGPTL6 ELN ACTN4 REST HMBS HSD11B2 ND5 SDHD SMAD4 ND4 KCNJ5 LRIG2 NPHP1 TRNQ FMO3 HMBS PTPN22 FGFR2 GBA ELN KIF1B SDHB SLC2A10 COX1 ENG RREB1 CCR6 CYP11B1 PLIN1 CCN2 LMX1B ACTA2 CD46 VHL CACNA1D G6PC PPARG MMP14 NPHP1 WRN APOA1 GP1BB KCNJ5 GPC3 ARHGAP31 RFC2 SMAD3 ND6 MAX SCNN1B ND6 CTLA4 PRTN3 SCNN1G RET PLIN1 USP8 C3 XYLT1 HLA-B XYLT2 FGA TRNC TRNF EPAS1 APOB BBS7 BBS2 BNC2 FOXE3 SDHC IQCB1 NOS3 BBS9 ABCC6 KIF1B COL4A5 H19 EDA2R CYP17A1 ELN PKHD1 HBB ENPP1 LIMK1 TBL2 LZTFL1 CPOX CEP164 USP8 CALR KIF1B SLC37A4 ZMPSTE24 TRNF SERPINA6 TMEM67 VHL JAK2 MDH2 ARMC5 SMARCAL1 FUZ ABCC6 TRNW POU3F4 SDHB NSMCE2 OFD1 MEF2A WT1 KLHL3 XPNPEP3 HIRA GNAS TP53 PDE3A CEP19 BANF1 SPRY2 INVS ADA2 BBS1 FBN1 NOD2 SDHC CLIP2 ERCC8 HSD11B2 NPHP3 TMEM127 HLA-DPB1 TNFRSF11B SDCCAG8 DLST MC4R CEP290 EGFR STAT1 TMEM127 COL3A1 YY1AP1 CAV1 COQ7 INVS ADA2 NOTCH1 TRNK BBS12 NFIX TRIP13 TRPC6 IDUA OFD1 LMX1B WDR35 ENPP1 BMPR2 CEP290 MFAP5 LMNA TRNK MKS1 POU6F2 PKD1 CC2D2A MAT2A MYH11 LDLR RET COL3A1 VHL CCDC28B SCN2B SDHB NOTCH2 ECE1 CDH23 IFT27 TRNV SMAD4 TRIM32 SDHAF2 GNAS MYLK ALMS1 ARL6 TSC2 AIP PRKAR1A WT1 ITGA8 TRIM28 ARVCF GTF2I LARS2 TRNW THPO COX3 CYP11B2 TMEM237 SLC37A4 CYP11B1 IFT172 COL5A1 SMAD6 TRAF3IP1 TMEM70 TRNH FH DNAJB11 NFU1 CFHR1 TBX1 BBS4 KCNJ5 COL4A3 AIP TRNS2 NR3C1 MLXIPL NPHP1 LMNA GUCY1A1 EDA SLC25A11 ACTA2 SCNN1A CFHR3 FMR1 LMNA TTC8 PRKG1 PRKACA TGFBR1 FIG4 ELP1 BAZ1B IL12B MAX IRF5 NPHP4 PHF21A ABCC6 RET WDPCP YY1AP1 CUL3 COL4A3 ADAMTSL4 BBS5 SLC52A3 OSGEP GANAB GNAS CYP21A2 TRNE SDHB ABCB6 VAC14 JAK2 RET SDHA PRKAR1A SDHD PCSK9 GDNF WT1 TET2 NR3C2 SMAD4 CLCN2 ABCG5 MPL C8ORF37 GTF2IRD1 VANGL1 TRNK THBD PRKAR1A