SNPMiner Trials by Shray Alag


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Report for SNP rs1799963

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Prediction of Recurrent Pregnancy Loss by a New Thrombophilia Based Genetic Risk Score

Recurrent pregnancy loss (RPL) is a clinical problem affecting 1-5% of couples of reproductive age. The contribution of thrombophilia to RPL is disputed. This controversy is partly due to low sensitivity of the genetic variants currently used to evaluate hereditary thrombophilia: the Leiden mutation (identified as rs6025) in the coagulation factor 5 (F5L) gene and mutation G20210A (identified as rs1799963) in the prothrombin (PT) gene. Our objective was to determine whether a wider algorithm that includes clinic and genetic variants associated with thrombophilia could be more useful in the prediction for RPL than FVL and PT alone.

NCT03336463 Miscarriage, Recurrent
MeSH: Abortion, Spontaneous Abortion, Habitual Thrombophilia
HPO: Hypercoagulability Spontaneous abortion

This controversy is partly due to low sensitivity of the genetic variants currently used to evaluate hereditary thrombophilia: the Leiden mutation (identified as rs6025) in the coagulation factor 5 (F5L) gene and mutation G20210A (identified as rs1799963) in the prothrombin (PT) gene.

Primary Outcomes

Description: Repeated clinical pregnancy loss and/or foetal death (≥ 2 consecutive or ≥ 3 non-consecutive) before the 20th weeks of pregnancy

Measure: Recurrent Pregnancy Loss

Time: 20 weeks

Description: Pregnancy with life-birth

Measure: Pregnancy at term

Time: 20 weeks

2 Evaluation of the Incidence of Cancer in the Follow-up of Women With 3 Consecutive Embryonic Demises Before 10 Weeks or 1 Fetal Death, According to Their Thrombophilia Status, With a Special Focus on Women With an Obstetric Antiphospholipid Symdrome (oAPS)

A number of case reports describe the association of antiphospholipid antibodies (aPL Abs) with hematological and solid organ malignancies. Especially in elderly patients, thrombotic events associated with aPL Abs can be the first manifestation of malignancy. Cancer-associated monoclonal gammopathy of the IgM type can be accompanied by positive lupus anticoagulant (LA) or an anticardiolipin (aCL) IgM. Cancer and antiphospholipid antibody syndrome (APS) can coexist in sporadic cases, while some cancer patients with or without thrombosis may show some transitory aPL Ab positivity, the most striking symptomatic clinical feature, catastrophic APS, being even described in cancer patients. Some reports suggest a significant incidence of malignancies in APS patients. Cancer was the 2nd cause of death (13.9%), after bacterial infection, during the 10-year follow-up of the 1,000 APS patients studied by the Euro-Phospholipid Project Group, but no control group was simultaneously evaluated. The risk of cancer in patients with APS is thus still uncertain. The Nîmes Obstetricians and Haematologists APS (NOH-APS) study was based on the recruitment of a cohort of women with no history of thrombosis, who had experienced pregnancy loss fulfilling the clinical criteria of obstetrical APS (oAPS), who were either positive for aPL Abs (APS group), or positive for the F5 rs6025 or F2 rs1799963 polymorphism (Thrombophilia group), or negative for thrombophilia screening (Control group). We now want to assess the comparative incidence of cancer in women for whom an oAPS diagnosis had been made. This evaluation will be carried out during the 2017 medical follow-up step, corresponding to a median follow-up of 17 years. An external, local population-derived control group, the registry of tumors in Montpellier area (Registre des Tumeurs de l'Hérault) will be used to compute standardized incidence ratios (SIRs).

NCT03969498 Antiphospholipid Syndrome Pregnancy Related Cancer
MeSH: Fetal Death Thrombophilia Antiphospholipid Syndrome
HPO: Hypercoagulability Stillbirth

The Nîmes Obstetricians and Haematologists APS (NOH-APS) study was based on the recruitment of a cohort of women with no history of thrombosis, who had experienced pregnancy loss fulfilling the clinical criteria of obstetrical APS (oAPS), who were either positive for aPL Abs (APS group), or positive for the F5 rs6025 or F2 rs1799963 polymorphism (Thrombophilia group), or negative for thrombophilia screening (Control group).

Primary Outcomes

Description: Comparison of the incidence of cancer diagnosis during the follow-up of patients included between January 1, 1995 and January 1, 2005, evaluated at the date of the annual consultation of 2017, in 3 groups of women sharing the same initial clinical symptoms (NOH-APS cohort), categorized according to the results of thrombophilia screening.

Measure: Comparison of the incidence of cancer diagnosis

Time: 2017


HPO Nodes


Hypercoagulability
Genes 19
PROC SPTA1 SPTB F5 MYD88 EPB42 SLC4A1 PROS1 AGGF1 HRG PROC GATA2 THBD PLAT ANK1 PROS1 F9 DLD PIGA
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
Stillbirth
Genes 25
RNU4ATAC LBR SLC26A2 OSTM1 GDF5 ZMPSTE24 FLNA COL11A1 FLNB FLNA TRIP11 CENPF PTH1R LMNA PHGDH HYLS1 ESCO2 COL2A1 GBA SLC35D1 NEK8 ALPL NSDHL SLC26A2 MUSK