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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.

Recently, we confirmed that p53 can target the TLR8 ssRNA responsive receptor in a single nucleotide polymorphism (SNP)-dependent manner (rs3761624).

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