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Report for Clinical Trial NCT03209063

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

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
MeSH: Abortion, Spontaneous Abortion, Habitual
HPO: Spontaneous abortion

1 Interventions

Name: polymerase chain reaction

Description: diagnostic test as Polymerase chain reaction for detection of Prothrombin gene and methylenetetrahydrofolate reductase gene polymorphisms

Type: Diagnostic Test

Group 1 Group 2


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

Time Perspective: Prospective

Case-Control


There are 4 SNPs

SNPs


1 A1298C

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 ---


2 C677T

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 ---


3 G1691A

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 ---


4 G20210A

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 ---

Prothrombin G20210A refers to a human gene mutation that increases the risk of blood clots . --- G20210A ---

Study was conducted to evaluate the frequency of PT20210 among healthy Egyptians, (1.06%) had PT20210 G-A mutation.The variant causes elevated plasma prothrombin levels (hyperprothrombinemia), Prothrombin is the precursor to thrombin, which plays a key role in causing blood to clot (blood coagulation).Prothrombin G20210A can thus contribute to a state of hypercoagulability . --- G20210A ---



HPO Nodes


HPO:
Spontaneous abortion
Genes 70
MTMR14 DNAH9 CCDC103 DNAH11 DNAAF3 LRRC56 LRRC6 GAS8 SERPINC1 CFAP298 SPAG1 CCDC40 ARMC4 F13A1 HOXA13 GAS2L2 CCDC151 XIST MYF6 HTR1A DNAAF2 SYCP3 JAK2 RYR1 CFAP221 ANXA5 DNAAF1 RSPH4A OFD1 NME8 DNAAF4 DNAI2 CCDC65 MPL THPO BIN1 CFAP300 FOXJ1 ALB DNAI1 WRN DNM2 DNAAF6 FGG CCNO DNAH5 CCDC114 RSPH1 CCDC39 STK36 FGA F2 DNAJB13 RPGR MGP TTC25 DNAL1 DNAH1 ZMYND10 RSPH3 RSPH9 FGB SPEF2 DNAAF5 F13B DRC1 GPHN F5 MCIDAS HYDIN