SNPMiner Trials by Shray Alag


SNPMiner Trials: Mutation Report


Report for Mutation G308A

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 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: Ulcer Pressure 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

2 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 Heart Failure Hypertension, Pulmonary
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


HPO Nodes


Congestive heart failure
Genes 180
HJV TPM1 VHL HFE MYD88 ATP6V1A CACNA1S NDUFB11 FLNA SCO2 TCF4 FLNC MYH6 PNPLA2 MYH7 FBLN5 EYA4 MYL3 PSEN1 PSEN2 RASA1 CLIP2 DSP GPR35 DNAJC19 COG7 SGCD DTNA ENPP1 ACAD9 FOS HLA-DRB1 MAX GNPTAB KIF1B EFEMP2 NDUFAF3 BAG3 AGPAT2 WRN TUBB SLC19A2 PSMB8 IKBKG GBA AGGF1 ACTC1 BAZ1B PEX7 CDH23 CP CASR IRF5 RPS19 TSC1 TSC2 TMEM43 SLC25A26 CAV1 FXN RET PPARG ACVRL1 RFC2 IDS MDH2 PTEN GTF2IRD1 NSMCE2 GDF2 TMEM127 SELENON TTN HNRNPA1 NDUFB8 TF MECP2 TRIP4 HNRNPA2B1 ADCY5 ABCC6 ELAC2 RBM20 NDUFS2 STAT1 RYR1 EPG5 SNAP29 SLC25A3 MST1 SLC2A10 SLC17A5 IFIH1 GJA1 DES FGF23 TNNI3K JUP LIMK1 PHYH LDB3 FBN1 GTF2I GLA NDUFAF1 TRNC GLB1 LMNA COX1 ALMS1 COX2 COX3 SDHAF2 CYTB CLIC2 ATXN7 KCNJ5 SURF1 RAB3GAP2 ND1 MYPN TMEM70 SLC22A5 SCN4A ND4 PPA2 ND5 ND6 FGD1 PRKAR1A GATAD1 TRNE TRNF GNA11 CCN2 CCR6 CAVIN1 BSCL2 TRNH FGFR3 ELN HADHA TRNK TRNL1 HADHB HAMP DMD TRNQ PRKAG2 TRNS1 FH HBA1 TRNS2 GTPBP3 HBA2 TRNV TNNI3 TRNW TNNT2 ENG MAPRE2 PLN PLOD1 PRDM16 TRIM37 TBL2 ATP5F1A SDHA TAZ SDHB VCL ADAMTSL2 SDHC VCP SDHD CEP19 SMAD4 COL1A1 COL1A2 TPI1
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
Pulmonary arterial hypertension
Genes 104
MPL PIGN KRAS SLC25A24 CACNA1D IL12B HSPG2 FLNA KRT8 EOGT TBX4 MLX HLA-B KRT18 PDSS1 DLL4 SFTPB SFTPC FOS HLA-DRB1 ACTA2 AGPAT2 KIAA0319L GATA6 LAMA2 IKBKG COX7B GBA TCIRG1 LAMB2 IRF5 PAM16 SPECC1L CAV1 PPARG ACVRL1 IDUA GDF2 COLQ PPCS TERT BANF1 NFU1 STAT1 NOD2 JAK2 GJA1 LIFR LIPT1 VAC14 BMPR2 LIPA TNFSF11 FBN1 SARS2 THPO SFTPA2 PIGA MGP COX1 ALMS1 COX2 CLCN7 G6PC3 COX3 FIG4 ARHGAP31 NFIX SCARB2 ND1 ND4 RBPJ ND5 ND6 SNX10 KCNK3 ABCD4 TRNF CCN2 CCR6 CAVIN1 BSCL2 FGFR1 TRNH FGFR3 EIF2AK4 TRNL1 TRNQ TRNS1 TRNS2 TRNW HBB DOCK6 ENG SLC37A4 MED12 ATP5F1A NOTCH1 FOXF1 SMAD4 CHST3 COL1A1 SMAD9 COL1A2
Pressure ulcer