SNPMiner Trials by Shray Alag


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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


SNP 0
HP:0000822: Hypertension
Genes 411
PLIN1 SMARCAL1 LIMK1 SDCCAG8 ELP1 TSC2 FMR1 CPOX GNAS COX1 SH2B3 LYZ CLCN2 NF1 NOTCH3 ARL6 EDA2R ELN APOA1 CTLA4 CC2D2A MLX FGFR2 ADA2 TRNC MMP14 MTRR BANF1 GLA TRNK TRNL1 CCR6 GPC3 CYP11B2 ERCC8 TRIM32 CFH ACVRL1 COL3A1 LRP6 TRNK XYLT2 CFI CALR ITGA8 SLC37A4 SUGCT GBA NF1 CD46 WT1 WRN KLHL3 BBS4 THPO SDHA POU6F2 ABCG8 CORIN NFIX PDE8B NOD2 ARVCF INVS PRKAR1A RET GLA SLC25A11 SCNN1A TRIM28 TRNQ OFD1 B2M WT1 TNFRSF11B ARMC5 FGFR2 HLA-DPB1 PPARG EDA TP53 BNC2 ALX4 LMX1B NPHP1 ACAT1 ACTA2 GNAS GTF2IRD1 SDHC UFD1 ENPP1 GATA5 LEMD3 MYH11 HGD SDHD RET RFC2 IRF5 KCNJ5 LDLR ERCC6 DLST REST CAV1 GANAB BBS10 SMAD3 TET2 TRNW MUC1 POU3F4 OFD1 ADA2 SDHB ERCC4 BBS9 CD2AP LMNA CYP11B1 MEF2A MMP2 CLIP2 COL4A3 ELN COMT HPSE2 BBS2 XYLT1 PRKACA JMJD1C SMAD4 VANGL1 G6PC WNK4 DIS3L2 TMEM70 HBB ENPP1 MAFB LZTFL1 TRNS2 PKD2 USP8 HIRA TRIP13 DNAJB11 FBN1 TGFBR1 CFHR1 SH2B3 PKD1 LMNA PRKAR1A SDHB SCN2B PRTN3 NR3C2 WDR35 MDH2 DNMT3A ELP1 ALMS1 ELN TRNL1 IQCB1 RET MKKS YY1AP1 LARS2 AIP TBX1 TGFBR2 SPRY2 FBN1 NOTCH1 ABCB6 PRKACA MTTP MYLK ARL6 ABCC6 TRAF3IP1 COL5A2 RET STOX1 H19 LEMD3 FGA TMEM67 SEC24C MAX CYP11B1 SLC25A11 ND6 KIF1B ACTN4 ADA2 HSD11B2 DYRK1B NPHP1 BMPR2 PDE3A ND1 TTC8 JAK2 MGP NOTCH2 VHL SDHB SDHAF2 VHL MYMK NPHP3 ABCC6 TGFBR3 PPARG ALMS1 SMAD6 TRPC6 CCDC28B TMEM127 VHL TNFRSF11A SCNN1B BBS5 SCNN1B ARHGAP31 APOB SDHD SDHD PDE3A GDNF RREB1 CYP11B1 ECE1 TMEM237 TRNE SDHC FH YY1AP1 LMNA TGFB2 COX3 GPR101 CYP17A1 BRCA2 THBD LMX1B WNK1 LRIG2 FIG4 CEP290 HLA-DRB1 XPNPEP3 CCND1 MKS1 ACTA2 FUZ COL4A3 CYTB SMAD4 LMNA TRNV SLC2A10 FBN1 PRKG1 COQ7 MLXIPL KIF1B AIP FLT1 SERPINA6 CFB PLIN1 HLA-B NKX2-5 WT1 PKD1 EGFR MC4R EPAS1 SLC2A10 GCH1 BAZ1B NSMCE2 VHL PCSK9 KRT8 WT1 WDPCP TRNK PKD2 APRT HLA-DPA1 MPL COL4A5 KCTD1 SDHD TRIM28 GP1BB THSD1 BBS12 CEP290 FMO3 CYP21A2 CUL3 NPHP4 PKHD1 BICC1 COL4A4 BSCL2 NR3C1 WT1 GANAB C3 COX2 TRNF IFT27 GTF2I STAT1 SDCCAG8 PAM16 MFAP5 LOX IL12B SLC37A4 LDLRAP1 MYH7 BBS7 TGFB3 CBS ARMC5 CEP164 ADAMTSL4 INVS CDH23 COL5A1 CACNA1D LMNA PTPN22 SCNN1A SDHB ABCG5 TBX1 FN1 TMEM127 BBS1 CYP17A1 FN1 RPGRIP1L AIP PHF21A CACNA1H POR ND5 ENG BBS1 PDE11A EXT2 COL1A1 GUCY1A1 TSC1 FBN1 TBL2 HMBS HMBS C8ORF37 NR3C1 FOXF1 PRKAR1A NPHP1 CEP19 KRT18 MAX ABCC6 VAC14 KIF1B KCTD1 TRNS1 HSD11B2 GJA1 SCNN1G KCNJ5 BBIP1 PDE11A ANGPTL6 CDH23 KCNJ5 MAT2A SMAD4 IDUA IFT172 CACNA1D WDR19 ZMPSTE24 CYP11B1 FOXE3 CCN2 GNAS SCNN1G GUCY1A1 NFU1 VHL USP8 CFHR3 NOS3 COL3A1 JAK2 OSGEP