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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation G308A

Developed by Shray Alag, 2020-2021.
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
Conditions
  1. Pressure Ulcers
Interventions
  1. 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

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
Conditions
  1. Congestive Heart Failure
  2. Pulmonary Hypertension
MeSH:Hypertension, Pulmonary Hypertension Heart Failure
HPO:Abnormal left ventricular function Congestive heart failure Hypertension 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


HP:0001635: Congestive heart failure
Genes 264
TLL1 DSP PLN SLC25A26 BSCL2 DSP NDUFB11 ACTC1 RET TRNL1 JUP CAV1 TRNK SGCD ACTC1 KCNJ5 GTF2IRD1 TRNC FXN WRN HBA2 TTN CAVIN1 VHL ATP6V1A PPA2 FGFR3 MYH7 TRNS2 EYA4 PLOD1 LMNA BMP2 KIF1B SLC2A10 NDUFB8 GNA11 CACNA1S ND1 HADHA TCF4 GAA TRNK VCL GATA6 TBL2 MYL3 PLOD1 ABCC6 GNPTAB SDHD STRADA PNPLA2 ENG LMNA CLIP2 RFC2 TAZ TPI1 COL1A2 BAG3 LIMK1 DSP GTPBP3 DES IRF5 NDUFAF1 ELN SELENON PSMB8 HJV MYD88 MYH6 AGGF1 EYA4 ATP5F1A TET2 ND6 HFE DMD MST1 MAPRE2 DLST DNMT3A TNNI3K TUBB TNNT2 EFEMP2 TRIP4 DNAJC19 XYLT1 TRNQ SDHB GDNF ADCY5 EPAS1 GDF2 PRKAG2 PSEN2 CCR6 AFF4 COL1A1 CDH23 CITED2 ENPP1 RAB3GAP2 BCHE FLNC GLA SF3B1 TRNW HADHA DES IFIH1 MECP2 TMEM70 GATAD1 ACAD9 HBB ACVRL1 HADHB MTTP RASA1 TMEM127 FGF23 NF1 PRDM16 SDHAF2 PRKAR1A FGD1 LMNA NDUFAF3 TNNI3 RBM20 VHL IKBKG VPS33A XYLT2 MYH6 SDHD TRPM4 GLB1 ALMS1 SDHD COX1 TPM1 AGPAT2 SCN5A CLIC2 SCO2 LMNA CAV1 SDHA LMNA HAMP RYR1 CASR MYH7 TRIM37 KIF1B LMNA PTEN SURF1 ACTN2 MYH7 RET LMNA ATXN7 LMNA SLC19A2 GTF2I RPS19 MYH7 TRNF STAT1 GTPBP3 PPARG TRNV TMEM127 LDB3 MAX TBX20 TRNS1 COX2 MDH2 SCO1 MYLK2 GJA1 HFE NDUFS2 GK TTN ELAC2 HNRNPA2B1 IDS TBX20 TRNE MAX NSMCE2 ACAD9 TRNK CYTB GATA4 ND5 GLA ADCY5 HBA1 HADHB SNAP29 MYH7 NKX2-5 SLC22A5 SDHC HBB CITED2 HLA-DRB1 HNRNPA1 ABCC6 SDHB SLC25A3 ALMS1 CP VCP SCN4A HBB FH FBN1 DTNA FOS PRKAR1A TF SDHB COG7 VHL TLL1 PPARG FLNA ENG PSEN1 CCN2 MYPN GPR35 BAZ1B JUP EPG5 SLC25A11 RET CLIC2 COX3 FBLN5 SLC17A5 CAV3 NKX2-5 CEP19 TMEM43 PEX7 SMAD4 PHYH CYTB SCN1B MYSM1 ADAMTSL2 PRKAR1A TRNL1
HP:0000822: Hypertension
Genes 424
MAT2A WT1 LMNA HGD FN1 TRNL1 SERPINA6 YY1AP1 TRNK BBIP1 GTF2IRD1 TRNC KCNJ5 CLCN2 MGP TGFBR2 BBS1 CYP11B2 RET ARVCF KCNJ5 EGFR OSGEP SH2B3 TRNS2 SLC2A10 NKX2-5 LMNA RREB1 IFT172 LZTFL1 ND1 FBN1 FMO3 HLA-DPA1 GUCY1A1 APOB SCNN1G CEP164 BBS10 FUZ SDHB MUC1 REST ABCC6 TTC8 CLIP2 H19 ELN FGFR2 GATA5 PKD1 NF1 NPHP1 KCTD1 WNK4 HIRA GP1BB GNAS IRF5 EDA2R LMX1B NFU1 PLIN1 MEN1 SEC24C ELN GNAS COL3A1 NPHP1 SLC37A4 ERCC8 HLA-DPB1 NOTCH1 CFHR1 THSD1 SDCCAG8 DLST PKHD1 PPOX ACTN4 DNMT3A NOD2 SCNN1B C8ORF37 ECE1 XYLT1 ACTA2 GDNF CTLA4 PAM16 EPAS1 BBS4 ARL6 CCR6 DNAJB11 CDH23 ENPP1 WT1 DIS3L2 PKD2 MFAP5 GLA PKD2 NPHP1 TRNW NF1 IFT27 BANF1 CFI LMNA WNK1 WT1 ARHGAP31 SMARCAL1 FGFR2 STAT2 ACVRL1 CEP290 ADA2 NF1 SDHAF2 ENPP1 PRKAR1A IQCB1 PRTN3 TET2 SMAD6 XYLT2 NOD2 SDHD HPSE2 MYH11 SDHD COX1 PDE8B CAV1 C3 SMAD4 SCNN1G ELP1 USP8 EXT2 USP8 KIF1B SLC25A11 FBN1 CBS WDPCP BBS9 BRCC3 ACAT1 SPRY2 TRNF STAT1 SUGCT ELP1 SCNN1A GPR101 PPARG ZMPSTE24 MAX LRIG2 TRNS1 GJA1 ERCC8 BSCL2 CYP11B1 NPHP3 TRNE FIG4 CCND1 CD2AP KCTD1 TRAF3IP1 TRNK GBA TGFB2 CYTB HMBS GLA TRIM32 EDA SDHC TNFRSF11A LDLRAP1 MMP2 XPNPEP3 PKD1 KIF1B ABCC6 TRIM28 SDHB SDCCAG8 ALMS1 MAFB FN1 PTPN22 ACP5 ERCC4 LEMD3 CYP11B1 BBS7 SDHB LDLR SCNN1A NPHP4 KRT18 HSD11B2 CDKN1B CCN2 CUL3 GANAB PDE3A VANGL1 TSC2 ACTA2 PCSK9 CEP19 CFB SMAD4 MTTP COL4A5 LYZ FOXE3 IDS PRKG1 SLC37A4 PHF21A GUCY1A1 B2M RET INVS KCNJ5 PPARG WRN PLIN1 BMPR2 CDKN2C MMP14 VHL POU6F2 ELN COL4A3 CPOX ABCB6 CDH23 LMX1B THBD KIF1B SLC2A10 PDE11A JMJD1C CYP17A1 TRNK TBX1 IL12B COQ7 TBL2 TBX1 WDR19 LRP6 FMR1 SDHD CORIN RFC2 CACNA1H CYP11B1 MKKS ADA2 LIMK1 NOTCH3 MKS1 FLT1 BBS1 CACNA1D YY1AP1 CDKN2B ND6 LMNA MLX VAC14 PKHD1 TRIP13 PDE11A MEF2A IDS TRIM28 NDUFAF6 NOS3 TRNQ SDHB SDHC STOX1 SMAD3 ALX4 APRT LOX OFD1 IDUA TMEM127 COL3A1 AIP FBN1 LMNA CFH WT1 VHL NR3C1 CYP17A1 TSC1 ALMS1 SMAD4 POU3F4 FGA HMBS TP53 HBB ARMC5 BRCA2 SDHA CACNA1D ABCG5 RET UFD1 TREX1 NOTCH2 ABCC6 G6PC1 ARMC5 SCNN1B CCDC28B GTF2I JAK2 KLHL3 BBS5 MYH7 ERCC6 APOA1 TRNV TMEM127 TGFBR1 GNAS FBN1 ARL6 GCH1 COX2 MDH2 NFIX OFD1 AIP COL4A3 WDR35 ENG MAX CFHR3 TMEM70 NSMCE2 LARS2 LEMD3 ND5 CYP21A2 NR3C1 DZIP1L BNC2 VHL BICC1 ERCC6 PRKACA MC4R PRKACA ADA2 CYP11B1 INF2 HLA-DRB1 MYLK TGFB3 MTRR MYMK POR COL4A4 JAK2 SDHD SCN2B CEP290 ITGA8 FH DYRK1B TRPC6 HLA-B PRKAR1A MLXIPL BBS12 MDM2 MPL TMEM237 VHL BBS2 PDE3A NR3C2 KRT8 GPC3 PRKAR1A BAZ1B ERCC4 VHL TGFBR3 CDKN1A COMT WT1 SLC25A11 RET COX3 AIP ABCG8 HSD11B2 GANAB TMEM67 CD46 ADAMTSL4 TNFRSF11B ANGPTL6 INVS TRNL1