SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02635815

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

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
MeSH: Hypertension Hypertension, Portal
HPO: Hypertension Portal hypertension

1 Interventions

Name: Upper gastrointestinal endoscopy

Description: Upper gastrointestinal endoscopy using the Pentax video endoscope EG 3440

Type: Procedure

Group I Group II


Primary Outcomes

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

Time: 1 year

Time Perspective: Prospective

Cohort


There are 4 SNPs

SNPs


1 C677T

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 --- --- G20210A --- --- C677T ---


2 G1691A

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 ---


3 G20210A

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 --- --- G20210A ---


4 V617F

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 --- --- G20210A --- --- C677T --- --- V617F ---



HPO Nodes


HPO:
Hypertension
Genes 282
MKKS TET2 LDLRAP1 HGD IL12B TMEM67 DNAJB11 POU6F2 MYH7 PDE3A MYH11 ERCC4 PRTN3 ERCC6 DIS3L2 ZMPSTE24 MYLK TRAF3IP1 HLA-B ACAT1 TMEM237 LEMD3 HLA-DPA1 HLA-DPB1 ENPP1 CYP11B1 IFT172 MAT2A CYP11B2 CYP17A1 HLA-DRB1 CYP21A2 MAX SDCCAG8 B2M KIF1B CD2AP TRPC6 ACTA2 MC4R GBA BBS1 BBS2 CDH23 BBS4 HMBS PTPN22 HPSE2 IRF5 ACTN4 GCH1 EXT2 TNFRSF11A KCTD1 ACVRL1 GPR101 MDH2 RREB1 WNK1 NPHP4 TRIP13 ADA2 BBS9 BANF1 NFU1 ALX4 STAT1 PHF21A MKS1 HIRA NOD2 SLC52A3 LRIG2 ARL6 JAK2 SLC2A10 TTC8 ERCC8 KLHL3 GJA1 BMPR2 FBN1 GANAB NF1 CLCN2 GLA GPC3 MGP ALMS1 BRCA2 SDHAF2 FIG4 ARHGAP31 NFIX KCNJ5 SCN2B TMEM70 UFD1 PKD1 PKD2 SCNN1A PKHD1 SCNN1B WDR35 FGA SCNN1G MYMK CC2D2A MAFB CACNA1H NR3C2 CCR6 FGFR2 GNAS HSD11B2 SLC52A2 NME1 FH PLIN1 ADAMTSL4 ABCG5 ABCG8 WNK4 NOTCH1 TBX1 NOTCH2 SDHA FOXF1 NOTCH3 SDHB SDHC SDHD PCSK9 PDE11A GP1BB COL1A1 FOXE3 MPL COL3A1 NPHP1 CUL3 VHL COL4A3 COL4A4 COL4A5 CACNA1D COL5A1 COL5A2 IFT27 KRT8 FMO3 RPGRIP1L FMR1 FN1 COMT OFD1 MLX SH2B3 KRT18 CLIP2 CALR SMARCAL1 LZTFL1 CEP290 WRN WT1 BBIP1 ITGA8 ELP1 FUZ BAZ1B POR ABCB6 APOA1 POU3F4 PAM16 APOB GATA5 AIP CAV1 BBS5 REST CPOX RET NR3C1 PPARG OSGEP RFC2 GTF2IRD1 ECE1 IDUA NSMCE2 SERPINA6 LARS2 TMEM127 EDA CBS LDLR JMJD1C ABCC6 WDPCP CEP164 TNFRSF11B BBS10 WDR19 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 MFAP5 USP8 MLXIPL ANGPTL6 LIMK1 VAC14 NPHP3 GTF2I THPO TRNC SEC24C LMNA COX1 COX2 COX3 EGFR ARVCF GUCY1A1 SUGCT CYTB LMX1B TRIM32 TRIM28 BBS7 PDE8B VANGL1 LOX ND1 ARMC5 IQCB1 XPNPEP3 ND4 ND5 DYRK1B ND6 PRKACA PRKAR1A NKX2-5 TRNE TRNF YY1AP1 CCN2 BSCL2 TRNH CTLA4 ELN TRNK TRNL1 PRKG1 C8ORF37 TRNQ TRNS1 TRNS2 TRNV TRNW HBB LYZ ENG MUC1 BBS12 G6PC SLC37A4 TBL2 EDA2R H19 COQ7 TP53 SMAD3 CEP19 SMAD4 INVS SMAD6
Portal hypertension
Genes 51
MPL JAK2 MST1 TET2 IL12A TMEM67 IL12RB1 MLXIPL TCF4 DCDC2 NPHP3 EOGT RPGRIP1L MMEL1 ALMS1 SPIB DLL4 ARHGAP31 CALR GPR35 INPP5E SHPK HLA-DRB1 DGUOK BTNL2 RBPJ PKHD1 GLIS3 TJP2 FARSB GBE1 CC2D2A POU2AF1 IRF5 ELN ACVRL1 GDF2 DOCK6 ENG SP110 ADA2 F5 SLC30A10 TNFSF15 TNPO3 NEUROG3 NOTCH1 CLDN1 STN1 SMAD4 PIGM