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Report for SNP rs1465952

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Effect of SNPs in p53 and p53 Response Elements on the Inflammatory Response to DNA Damage

Background: - Research has shown that certain proteins in cells may be linked to higher risks of developing inflammations, tumors, and other medical problems. By examining how the blood cells of healthy volunteers respond to environmental exposures, researchers hope to better understand the relationship of genes, environmental factors, and human diseases. Objectives: - To examine how specific genes and proteins in blood cells respond to environmental exposures. Eligibility: - Healthy volunteers between 18 and 45 years of age. Design: - The study will involve one visit of 45 to 60 minutes. - Participants will be screened with a brief physical examination and finger stick to determine if they are eligible to donate blood for the study, and will complete a questionnaire about any medications or other drugs (e.g., cigarettes) they may be taking. - Participants will provide a blood sample for research purposes.

NCT01143519 HIV-1 Seropositive Inflammation Cancer Cardiomyopathy
MeSH: Cardiomyopathies Inflammation
HPO: Cardiomyopathy

The primary endpoint of this study is p53 target gene expression measured by RTPCR for the following five SNPs: p53 rs1042522, MDM2 rs2279744, FLT1 C-677T, TLR8 rs3761624 and RMM1 rs1465952.. p53 promoter occupancy.

Measured by ChIP analysis for the following SNPs: FLT1 C-677T, TLR8 rs3761624 and RMM1 rs1465952.. - INCLUSION CRITERIA: - Male or female 18 years of age or older - Participants must be able to understand and provide written informed consent to participate in the study - Participants must be able to travel to the CRU - Nonpregnant - Healthy participants as defined by the International Red Cross guidelines (Healthy means that an individual feels well and can perform normal activities.

The five SNPs are p53 rs1042522, MDM2 rs2279744, FLT1 C-677T, TLR8 rs3761624 and RMM1 rs1465952.

The secondary objectives are to: (1) to determine the p53 promoter occupancy measured by ChIP analysis for the following SNPs: FLT1 C-677T, TLR8 rs3761624 and RMM1 rs1465952; (2) to measure apoptosis by Annexin V-PI assay for p53 rs1042522 SNPs; (3) to examine the cell cycle profile analysis (FACS) by cytofluorometry for p53 rs1042522SNPs; and (4) to determine DNA repair using Pulse Field Electrophoresis Gel (TAFE gels) for the following p53 rs1042522SNPs.

Primary Outcomes

Description: The primary endpoint of this study is p53 target gene expression measured by RTPCR for the following five SNPs: p53 rs1042522, MDM2 rs2279744, FLT1 C-677T, TLR8 rs3761624 and RMM1 rs1465952.

Measure: p53 target gene expression

Time: analysis on blood drawn at visit

Secondary Outcomes

Description: Measured by ChIP analysis for the following SNPs: FLT1 C-677T, TLR8 rs3761624 and RMM1 rs1465952.

Measure: p53 promoter occupancy

Time: analysis on blood drawn at visit


HPO Nodes


Cardiomyopathy
Genes 711
GTF2H5 UBR1 ND5 GMPPB CLPB RNASEH1 MYH7 COX15 TNNT2 TNNI3 MYPN AGPAT2 DMD DPM3 EYA4 CRYAB FHL2 POMT2 SGCD NDUFV2 DSG2 TREX1 TERT SLC40A1 IDUA TMEM43 RMRP DOLK NDUFAF4 FKRP SURF1 NUBPL COQ2 NDUFB10 EMD LMNA SLC25A4 SLC19A3 HMGCL MYH6 MYL3 MYH7 LAMA2 NBAS ERCC4 PMM2 HNRNPA1 GYS1 MTO1 ENPP1 SHOC2 SELENON SCN5A CENPE MYH6 NDUFAF5 COX6B1 TNNT2 CPT2 COL7A1 COX15 SLC2A10 SARDH CPT2 FANCF SDHA NDUFV2 SUFU GMPPB ND2 FTO CRYAB WFS1 POMT2 MYH7 RRM2B TRNL1 SURF1 COX8A SGCD NDUFA11 IL12B PLN H19-ICR CAV3 MLYCD TMEM43 GBE1 SDHD SELENON RBM20 FKRP GNPTAB BRAF DMD CLIP2 MYPN BMP2 HLA-B TRNF DPM3 FLNC LMNA PEX5 NPPA PARS2 NDUFS2 TAF1A OPA1 FHL1 COX14 ATPAF2 MYH7 PNPLA2 AARS2 SCN5A ELAC2 NDUFS2 DES PCCB DMD NDUFS1 MYH7 PET100 IFIH1 MYLK2 CLN3 ACTN2 TBL2 ALMS1 COX20 TGFB3 HAMP FAH CDKN1C MC2R EYA4 MEN1 FKTN FANCG IDUA HSD17B10 NDUFAF2 TTR MYH7 IGF2 FXN AIP TSFM SPTB PEX13 RAF1 NEXN PEX12 MIPEP JUP TPM2 MYBPC3 ND5 SLC25A3 MMP1 MYOT NAGA POLG ACADS SLC25A20 FXN SKI DES GPC3 COA5 SPTA1 SDHAF1 DSG2 GTF2I HADHA TXNRD2 ATP5F1D TWNK TMEM126A MIB1 LMNA COA8 HFE POMK TPM2 TRNH GNS MYPN NDUFB11 LAMB3 PEX6 ACTN2 MPLKIP PRDM16 NUP107 NDUFA10 CHKB FOS LMNA LDB3 ITPA FOXRED1 NNT PDGFRA NDUFAF3 DMD BCS1L HADHA RNU4ATAC TRNL1 PCCA GATA4 ND4 SDHA POLG CAV1 ND2 CPT1A FANCB RAD51 SHOC2 JUP BAG3 RMND1 MMUT NDUFA2 NDUFS1 GABRD DTNA FANCD2 DES VPS13A AGK MRPL3 TRNE PEX10 TACO1 LMNA MRPS22 XRCC4 ND1 NDUFS4 ACAD9 ATAD3A DSC2 TNNC1 BRCA1 TAZ MAP2K1 POLG FASTKD2 ACADVL NDUFA6 NDUFAF5 MAP2K2 TRNS1 NDUFB8 TK2 FKRP KRAS TPM1 BRAF PRDM16 TMPO ACTC1 USP8 XRCC2 DCAF8 FIG4 MYH6 SDHAF1 RAF1 HNRNPA2B1 ANKS6 GPC4 CPT2 POLG TOP3A KAT6B COX1 SGSH ARSB TNNI3 AGL NEBL NDUFS6 STAR MRAP CSRP3 NDUFA12 KCNQ1OT1 LDB3 DSP NDUFA13 ACTC1 D2HGDH JUP NDUFB9 TCAP FANCL TRNW COX3 PLN TTPA DSP RNU4ATAC LIAS GYG1 GPR101 MYL2 GTF2E2 MAP2K1 LIMS2 TIMMDC1 TGFB1 RNASEH2A LMNA DSP ALG1 SDHA TWNK COX2 SCO1 MTFMT TTR FOXRED1 EPB42 RRM2B GSN PHYH DES GTPBP3 COX10 GPC3 TMEM126B ABHD5 HADHA MAP3K20 POLG PTPN11 COG7 VCL NDUFB11 GLA TPM2 NDUFAF1 SLC30A10 MAP2K2 WARS2 SYNE2 KRAS MGME1 FOXRED1 KLF1 ATAD3A HRAS ATP6 NDUFAF2 HACD1 ALG1 GMPPB ABCC6 PPARG XYLT1 PPCS SLC25A4 RAD51C GATA5 DNAJC19 ANK1 DLD COL7A1 PHYH LDB3 NDUFA1 EPG5 IDH2 PSEN1 HJV NDUFB3 BAZ1B NDUFA4 PEX7 ERCC2 TNNI3 TRNW COA8 ECHS1 SYNE2 ND6 BSCL2 ACAD9 TFR2 TARS1 NRAS TRNV TMEM70 ND4 NEXN RFWD3 MYOZ2 FHL1 NDUFS8 LMNA NEU1 RFC2 DSP RERE NDUFAF3 NDUFS3 TRNT BAG3 HADHB CSRP3 TACO1 SLC19A2 GSN LAMA4 NDUFS4 XK TWNK ACAD8 TRNQ FLNC FKTN GJA5 SLC25A20 RBCK1 TRNN GTF2IRD1 FANCI NDUFS7 SOS1 C1QBP PTPN11 XYLT2 ANKRD1 EPG5 BSCL2 TNNI3 RNF113A MAD2L2 MRPS14 SGCB PMM2 PEX7 TRNK TNNI3 NAXD GATAD1 ACTC1 TWNK NAGA LAMP2 TPI1 TRNK TAZ FANCA PCCB ANKRD11 NDUFAF4 SLX4 AGK MYBPC3 IDUA TPM1 ATP5F1E TAPT1 ATP6 RBM20 LMNA COQ4 KRAS HAMP FBXL4 AIP ADCY5 LDB3 TTN NDUFS2 ELN KCNQ1 ABCC9 SMC1A TPM3 BOLA3 TTN CAVIN1 PPCS PALB2 VCL HADHA FHL1 MICOS13 NAGLU ACTA1 SLC25A4 FANCE SDHD FANCM HCCS NEXN TNNT2 RAF1 HJV MYH6 BRAF WFS1 TCAP TTN PNPLA2 SLC22A5 KLHL41 ACTA1 PDHA1 HCCS CAP2 PEX26 TPM3 PSEN2 NDUFV1 ND6 ACTA1 PPARG HGSNAT PKP2 CSRP3 PTPN11 ACADL TTN BBS2 HADH PSEN2 MYOT KBTBD13 ADCY5 NDUFB11 PEX3 NEB DMD TAZ NDUFA11 FIG4 AHCY ACADVL DLD NDUFA2 RYR1 PRKAG2 DSG2 TNNI3K ERBB3 ND3 TNNT2 POLG2 NUP107 NDUFS7 FKTN ABCC9 RAF1 TNNC1 PIGT ANO5 DOLK PRDM16 NF1 PRKAG2 RAF1 NDUFAF6 TMEM70 LMNA PEX2 LTBP4 KCNH1 PRKAG2 BAG3 BRAF CRYAB TPM1 SLC25A4 PPP1CB TRNS2 SGCB SYNE1 SPEG VPS33A TPM3 NDUFA10 FHL1 TNNC1 NDUFV2 CISD2 SGCA ALMS1 HPS1 MYH7 KCNJ8 ERCC3 LIMK1 NDUFV1 PEX11B GATAD1 MYPN SLC4A1 NDUFAF1 RNASEH2B TRNS1 POMT1 GNE TRIP4 MAP2K1 NEK8 BRCA2 ATP6V1A TRNL1 NDUFS3 JPH2 RIT1 PGM1 COX7B AIP PPA2 RYR2 AHCY ND1 LIPT1 ACTA1 NDUFS8 CRYAB GPC4 RAB3GAP2 MRPL44 POMT1 LAMA3 HFE TXNRD2 TMEM126B ACAD8 DNAJC19 H19 SDHA ND1 NEB LAMC2 VAC14 SCO2 LAMP2 ADAR POMT1 NDUFA9 JUP LAMA4 SCO2 MGME1 PEX14 HADH RNASEH2C LMNA TANGO2 CDH23 SDHA PEX1 TRNK FLAD1 PEX16 FKTN PEX7 POMGNT1 SDHB PSEN1 COX7B ND3 HRAS COA6 GLB1 MYL2 AGPAT2 HBB MMUT USP9X ABCC6 PEX19 PET100 FANCC HADHB MYO18B LMNA BRIP1 NDUFB11 YARS2 KCNAB2 PCCA VCL POMT1 MYBPC3 NDUFS2 TRNT1 GUSB SLC25A3 VCP PLN ITGA7 CPT2 UBE2T NDUFS4 DSP ABCC9 SAMHD1 NDUFS8 MLX