SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Mutation G308A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Impact of Different Genetic Polymorphism on the Pulmonary Pressure in Patients With Pulmonary Hypertension of Different Cause With Special Focus on Patients With Chronic Heart Failure

Pulmonary Hypertension (PH) is a disease that is characterized by vasoconstriction of small vessels of the lung. Many cases do have proliferation of endothelial cells within these vessels. A possible influence of polymorphisms of genes relevant for inflammatory and endothelial processes is suspected. Especially patients with chronic heart failure can develope PH. The reasons therefore are lacking. The researchers investigate different polymorphism and the influence of these on pulmonary artery pressure (measured invasively) in patients with congestive heart failure (CHF) and patients with primary pulmonary hypertension.

NCT00893178 Congestive Heart Failure Pulmonary Hypertension
MeSH: Hypertension, Pulmonary Hypertension Heart Failure
HPO: Congestive heart failure Hypertension Left ventricular dysfunction Pulmonary arterial hypertension Right ventricular failure

Rate of G308A TNF alpha polymorphism within the different groups. --- G308A ---

Primary Outcomes

Measure: Correlation of the Expression of Glu 298ASP Polymorphism with pulmonary pressure

Time: Dec. 2010

Secondary Outcomes

Measure: Rate of G308A TNF alpha polymorphism within the different groups

Time: Dec. 2010

2 Case Control Study of the Risk Factors for Pressure Ulcers in Tunisian Patients

Development of pressure ulcer (PU) is complex and multifactorial. The association of a constituted PU and of clinical / biological major elements is demonstrated and justifies. Prevention of PU is an important health priority, one that requires clear identification of risk factors.

NCT02578004 Pressure Ulcers Other: biochemical and molecular analysis
MeSH: Pressure Ulcer Ulcer
HPO: Pressure ulcer

The genotypic and allelic frequencies of -238G/A were calculated This study investigated the association between TNF-α−238G>A and Pressure ulcer in Tunisian population.. Genotyping of TNF- α G308A. --- G308A ---

The genotypic analysis of the TNF-α G308A polymorphism was performed using Allele-specific PCR (AS-PCR) amplification. --- G308A ---

Primary Outcomes

Description: Body Mass Index (BMI) is a simple index of weight-for-height. It is defined as the weight in kilograms divided by the square of the height in metres (kg/m2).

Measure: Anthropometric characteristics

Time: one hour

Description: - Plasma levels glucose in mmol/l was measured by standard enzymatic methods using reagents in a fully automated analyzer Cx5 Pro-Bechman Coulter-Fuller-Ton

Measure: Diabetes mellitus

Time: one hour

Description: Lipid markers: total serum cholesterol (CH), serum triglyceride, serum HDL- CH, in mmol/l, levels were measured by standard enzymatic methods using reagents in a fully automated analyzer (Randox Antrim, UK; CX9-BECKMANN). Low density lipoprotein cholesterol (LDL-C) in mmol / l was determined by Friedewald formula. non esterified fatty acids in serum was determined by colorimetric method at 550 nm (mmol/l)

Measure: Dyslipidemia

Time: one hour

Description: - renal profile: urea (mmol/l), creatinine and uric acid (μmol/l) levels were measured by standard enzymatic methods using reagents in a fully automated analyzer ( Cx9 Pro-Bechman Coulter-Fuller-Ton).

Measure: Renal failure

Time: one hour

Description: - C-reactive protein (CRP), in mg/l, was measured using immunoturbidimetric methods (COBAS INTEGRA 400 Roche).

Measure: Inflammatory parameter

Time: one hour

Description: - α1‐acid glycoprotein, in g/l, measured using the dry chemistry method (BN prospec, siemens)

Measure: Endogenous inflammatory marker

Time: one hour

Description: albumin (chronic marker) and prealbumin (early marker) were measured, in g/l, using the dry chemistry method (BN prospec, siemens). Protide in g/l was measured by standard enzymatic methods using reagents in a fully automated analyzer (CX9-BECKMANN).

Measure: Markers of nutritional status

Time: one hour

Description: Serum total homocysteine concentrations in μmol/l were measured by using an AxSYM (ABBOTT) homocysteine assay. thiobarbituric acid reactive substances (TBARS) in serum was determined by the fluorimetric method of Yagi in μmol/l.

Measure: Marker of lipid peroxidation

Time: one day

Description: - Serum catalase activity in KU/l was determined according to the spectrophotometric method of Goth .

Measure: Antioxidant parameters

Time: one day

Description: Serum total antioxidant status in mmol/l was measured with RANDOX kit (Cat. No. NZ 2332; Randox Labs Ltd., Crumlin, UK) by colorimetric method at 600 nm .

Measure: Total antioxidant status

Time: one hour

Description: Serum copper in μmol/l was indicated spectrophotometrically with RANDOX kit (Cat. No. CU 2340; Randox Labs Ltd., Crumlin, UK) at 580 nm according. Serum zinc was measured in μmol/l with RANDOX kit (Cat. No. ZN 2341; Randox Labs Ltd, Crumlin, UK) at 560 nm.

Measure: Determination of trace elements

Time: one hour

Description: - Nutritional Risk Index (NRI) was originally derived from the serum albumin concentration and the ratio of present to usual weight [NRI = (1.489 x albumin, g/L) + (41.7 x present weight/ideal body weight)] and categorized as follows: severe risk (NRI < 83.5), moderate risk (83.5 < NRI < 97.5) and no risk (NRI > 97.5).

Measure: Nutritional status

Time: 3 hours

Description: - Prognostic Inflammatory and Nutritional Index (PINI) is a simple clinical [PINI = AAG x CRP / albumine x prealbumin] and classificated as follows: normal (130. These scores gained in popularity as it uses an objective rather than subjective measurements to determine nutritional risk in hospitalized patient populations.

Measure: Nutritional risk

Time: 3 hours

Description: The bacterial colonization of a wound is a recognized detrimental factor in the multifactorial process of wound healing. wound per patient suffering from pressure ulcer was cultured by swab to determine the bacterial species of the infection and helps guide antibiotic therapy. The representative sample is collected before topical or systemic antibiotics are initiated and pain assessment should be conducted prior to wound procedures such as dressing changes and debridement. Bacterial swabs provide information on the predominant flora.

Measure: A microbiological diagnosis

Time: 3 days

Description: - Serum gelatinase activities of MMP-9 by zymography (%)

Measure: Proteomics

Time: 2 days

Description: Genomic DNA was extracted from whole blood using the salting out method for the part of molecular biology.

Measure: DNA extraction

Time: 2 days

Description: Genetic polymorphism in the MMP9 coding region 1562C>T was screened following the polymerase chain reaction and restriction fragment length polymorphism (RFLP-PCR). The frequency distributions of different MMP9-1562 C/T genotypes and allele were investigated. The relationship between the polymorphism of the MMP-9 gene and the severity of PU was analyzed.

Measure: Genotype for the MMP9-1562 C/T polymorphism

Time: 1 days

Description: TNF-α G238A promoter polymorphism were determined by the RFLP-PCR method. The genotypic and allelic frequencies of -238G/A were calculated This study investigated the association between TNF-α−238G>A and Pressure ulcer in Tunisian population.

Measure: Genotyping of TNF- α G238A

Time: 1 days

Description: The genotypic analysis of the TNF-α G308A polymorphism was performed using Allele-specific PCR (AS-PCR) amplification. In this study, we have analyzed the TNF-α gene promoter -308G/A polymorphism in Tunisian patients with PU to evaluate the contribution of this SNP in genetic susceptibility to PU.

Measure: Genotyping of TNF- α G308A

Time: 1 days


HPO Nodes


Congestive heart failure
Genes 250
PTEN HJV BAZ1B PEX7 HBA1 ND1 TNNT2 TRIM37 ACAD9 AGPAT2 TRNS1 LMNA EYA4 ND4 MYH7 LMNA RFC2 DSP NDUFAF3 TMEM43 SF3B1 HADHB SLC25A11 COX2 ENG HBA2 CEP19 LMNA TRNQ TRNQ GTF2IRD1 IDS MYL3 MYH7 ATXN7 ND6 HNRNPA1 CACNA1S FLNC XYLT2 EPG5 BSCL2 MYH6 FBN1 TRNK GBA SLC2A10 TRNV COX3 RET PRKAR1A MDH2 TRNK IRF5 MYH7 GPR35 TRNL1 ENG SURF1 STAT1 NSMCE2 SGCD ATP5F1A PLN TUBB PLOD1 CAV3 SLC25A26 SLC19A2 MYD88 GLA TPM1 GNPTAB RBM20 LMNA CDH23 TRNW CLIP2 MYPN TSC1 BMP2 HAMP TRNF ADCY5 LMNA LDB3 TTN ELN ENPP1 CAVIN1 TF MAX ELAC2 NDUFS2 CYTB DES DMD MYLK2 MAX TBL2 HLA-DRB1 ALMS1 PNPLA2 SLC17A5 COG7 SLC22A5 MYH7 PSMB8 SCN1B EYA4 MST1 FH TMEM127 MYH7 ND6 PPARG SDHA MAPRE2 COX1 JUP PSEN2 RASA1 ND5 SLC25A3 LMNA DLST TRNF IFIH1 ADCY5 SDHB SCN4A FXN GDF2 GTF2I HADHA GJA1 GNA11 RYR1 HFE SNAP29 TRNH TNNI3K FLNA TRNS2 SDHAF2 LMNA ACVRL1 TSC2 CASR FOS FGFR3 TRNK TRNL1 BCHE CCR6 CAV1 FGF23 VHL TMEM70 ADAMTSL2 DTNA PRKAG2 BAG3 TRNE SMAD4 TRNS2 ACAD9 SDHC PRKAR1A TAZ CAV1 ALMS1 TRNS1 NDUFB8 LIMK1 CLIC2 GATAD1 SDHD NDUFAF1 PRDM16 SELENON TRPM4 ACTC1 PRKAR1A SCN5A RPS19 TRIP4 FBLN5 SDHB NDUFB11 ATP6V1A HNRNPA2B1 CCN2 PSMB8 PPA2 TRNL1 COX1 RAB3GAP2 TNNI3 HFE COL1A2 TRNC CLIC2 DSP ND1 SCO2 JUP SDHD TRNW COX3 EFEMP2 AGGF1 TMEM127 TCF4 LMNA DSP KIF1B COL1A1 COX2 TPI1 GNPTAB FGD1 PSEN1 RET GLB1 KCNJ5 PHYH DES GTPBP3 HADHB WRN ND5 MECP2 HADHA GDNF VCL GLA TTN KIF1B VHL VCP ABCC6 PPARG CP XYLT1 TET2 DNAJC19 IKBKG NKX2-5 ABCC6
Pulmonary arterial hypertension
Genes 126
LIFR GDF2 CAV1 TNFSF11 ABCD4 GJA1 PAM16 ARHGAP31 SPECC1L TRNH AGPAT2 CHST3 MED12 ACVRL1 BMPR2 FOS ND4 FGFR3 HBB FGFR1 EIF2AK4 TRNL1 GBA ACTA2 CCR6 CAV1 NOTCH1 COLQ PIGA DOCK6 TRNQ MPL SLC25A24 COG1 SFTPB SMAD4 LAMA2 SMAD9 TRNS2 CAV1 LIPA NOD2 SNX10 IRF5 KRAS CAV1 BSCL2 ALMS1 FLNA KRT18 GBA TRNS1 LIPT1 BMPR2 BANF1 SFTPC FIG4 KCNK3 FOXF1 FBN1 IRF5 PDSS1 CCN2 ENG STAT1 SFTPB IL12B ATP5F1A HSPG2 HLA-DRB1 COX1 PIGN CCN2 CLCN7 HLA-B TRNF CACNA1D EOGT NFU1 ND1 VAC14 TERT COL1A2 SCARB2 KIAA0319L CAVIN1 TRNW NOTCH1 COX3 FOXF1 JAK2 PPCS GBA COX7B MUC5B UBE2A RBPJ NKX2-1 GATA6 COL1A1 HLA-DRB1 COX2 CCR6 NFIX THPO ARHGAP31 HBB ND6 SLC37A4 TCIRG1 IDUA SARS2 ACVRL1 MGP DLL4 SFTPA2 ND5 KRT8 PPARG LAMB2 CACNA1D IKBKG TBX4 G6PC3 FIG4 MLX
Hypertension
Genes 410
GPC3 MPL PRKAR1A ABCG8 ND1 CYP11B1 TRNS1 B2M MMP2 BRCA2 SDCCAG8 HMBS LYZ PKD1 C8ORF37 BSCL2 WT1 SCNN1B SLC25A11 COX2 CEP19 TRNQ YY1AP1 ECE1 WT1 KCNJ5 ENPP1 FN1 PDE11A HGD SLC25A11 HSD11B2 MFAP5 GUCY1A1 DYRK1B SPRY2 SLC2A10 SMAD6 COX3 SCNN1G SCNN1B LARS2 FOXF1 NPHP4 TRNL1 TMEM67 IL12B HIRA TRIM28 MLXIPL CDH23 CLIP2 HLA-B TRNF POU6F2 NFU1 SDHC CEP290 ENPP1 EDA CYTB SDCCAG8 HLA-DPB1 SCNN1A NKX2-5 COL5A1 LEMD3 YY1AP1 TBL2 ALMS1 NOTCH3 CLCN2 ARVCF SEC24C CFH FH TGFB2 TMEM127 ARMC5 AIP SDHA JMJD1C COX1 ND5 COMT NF1 CACNA1D TGFBR1 REST LDLRAP1 GTF2I PDE3A TNFRSF11B MAT2A HSD11B2 TRNH CORIN SERPINA6 BBS10 AIP MAFB FOXE3 SCN2B SMAD4 CYP11B1 TRNK SLC52A3 TRNL1 CYP17A1 GBA SDHB BBS1 HBB CCR6 XPNPEP3 ERCC4 VHL BBS7 GP1BB TRNE OSGEP PPARG NOS3 TRPC6 HMBS JAK2 VHL KRT18 TRNS1 WT1 NPHP1 SDHD INVS KCTD1 OFD1 USP8 FIG4 TRIM28 LRIG2 PCSK9 SDHB SCNN1G CCN2 COL1A1 TRNL1 WT1 PTPN22 LDLR PRKAR1A COX1 VHL TRNC COQ7 LEMD3 PRKACA MKKS BBS5 SLC52A2 SDHD TRNW COX3 RREB1 GPR101 SMAD3 INVS KIF1B DNAJB11 COX2 APOA1 RET ARHGAP31 KCNJ5 WT1 ND5 GDNF CUL3 GLA FLT1 ACVRL1 TNFRSF11A VHL GNAS PRTN3 COL3A1 ABCC6 XYLT1 CYP11B1 ADAMTSL4 FGA C3 COL5A2 BBS9 ERCC6 KCNJ5 FBN1 APOB BAZ1B PAM16 POU3F4 TMEM70 ND4 STOX1 GNAS RFC2 TGFBR2 CALR IQCB1 CYP21A2 MMP14 SLC37A4 ALX4 TRNQ TBX1 THPO GTF2IRD1 GATA5 ND6 FN1 RPGRIP1L CFB ANGPTL6 RET XYLT2 VANGL1 NR3C1 PDE11A NR3C2 POR TRNK BMPR2 MGP TRNV SUGCT RET MYH11 PRKAR1A MDH2 FMO3 KLHL3 WNK4 TMEM237 LZTFL1 TRNK IRF5 STAT1 NSMCE2 MUC1 COL4A4 HLA-DPA1 GLA IDUA NOTCH2 TRNW CC2D2A SCNN1A NR3C1 CPOX USP8 BBS2 ELN CYP11B2 SMARCAL1 LMX1B BNC2 TRIM32 MAX MKS1 PKD2 LRP6 PRKACA COL3A1 SDHD NPHP1 MAX PRKG1 MYLK HLA-DRB1 DIS3L2 CFI LMX1B ACAT1 ELN EGFR ND6 ELP1 ELN SLC37A4 PPARG CEP164 LMNA PLIN1 DLST TP53 TRNF SMAD4 LOX UFD1 FMR1 SDHB NOTCH1 SMAD4 BBS12 IFT172 ABCG5 MYMK CFHR1 TRIP13 SLC2A10 GJA1 WDPCP FUZ CYP17A1 TRNS2 WDR35 MYH7 SDHAF2 LMNA NPHP3 GUCY1A1 EXT2 HPSE2 OFD1 LMNA FGFR2 MEF2A PLIN1 COL4A3 CEP290 ACTA2 KIF1B CD2AP TGFB3 FBN1 TRNS2 SH2B3 COL4A5 NOD2 SDHC PDE3A G6PC THBD FBN1 CAV1 TTC8 ALMS1 ITGA8 LMNA GANAB LIMK1 BBIP1 CTLA4 BANF1 CCDC28B CFHR3 FBN1 H19 CACNA1H ARMC5 AIP CCND1 ADA2 ARL6 EDA2R CBS SH2B3 TET2 CACNA1D ADA2 ND1 VAC14 IFT27 PDE8B CYP11B1 TRAF3IP1 CDH23 BBS1 TMEM127 COL4A3 GNAS ELP1 ACTA2 NPHP1 MTTP WNK1 WDR19 ZMPSTE24 CD46 GCH1 KCTD1 ADA2 ABCB6 ACTN4 NFIX ENG TGFBR3 ABCC6 WRN LMNA BBS4 PKHD1 FGFR2 MC4R ERCC8 KIF1B KRT8 TBX1 JAK2 PHF21A MLX ABCC6
Pressure ulcer