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Report for Mutation R287Q

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Cytochrome P450 Epoxygenase Pathway Regulation of Macrophage Function

Background: Respiratory diseases affect more than 1 billion people worldwide. They are a growing public health concern. The lungs are constantly exposed to environmental factors such as dust, fumes, microbes, and pollutants. But much is still not known about how these pollutants lead to respiratory illnesses. Researchers want to collect samples from lungs and blood to see how genetics and environmental pollutants affect cellular responses or functioning. Objectives: To study how cytochrome P450 epoxygenase pathway enzymes affect macrophage function in the lungs and inflammatory responses. Eligibility: Adults ages 18 65 who can have a bronchoscopy. Design: All study visits will take place at the NIEHS Clinical Research Unit in Research Triangle Park, NC. At study visit 1, participants will be screened with medical history and physical exam. They will have blood and urine tests. They will take tests that measure their lung function. They will answer questionnaires. Before the visit, they will be given a list of medicines they cannot take. They also must not have caffeine on the day of their visit. The visit will last about 3 hours. At study visit 2, participants will give blood samples. They will undergo bronchoscopy. For this, they will get an intravenous line in a vein to get sedatives. Their airways will be numbed. Cells will be collected from their lungs. They will fast for 8 hours before the visit. They must have someone else drive them home from the visit. The visit will last about 3-4 hours. Participants will get a follow-up phone call about 1 day after study visit 2.

NCT02743468 Polymorphism Lung Inflammation
MeSH: Pneumonia Inflammation
HPO: Pneumonia

- INCLUSION CRITERIA: 1. Age 18 to 65 years, inclusive (males and females) 2. Able to travel to the NIEHS CRU for required study visits 3. Able to present a valid government-issued form of identification for entry to the NIEHS campus 4. Able to fast for 8 hours prior to the visit where bronchoscopy occurs 5. Has a responsible party who is willing and able to attend Visit 2 and drive the participant away from the CRU after completion of Visit 2, if the participant elects to undergo conscious sedation 6. Genotype information available for relevant CYP2J2 and EPHX2 polymorphisms, which indicates: - Wild type with respect to EPHX2 K55R, EPHX2 R287Q, and CYP2J2*7; or - Homozygous for EPHX2 K55R (wild type for the other SNPs); or - Homozygous for EPHX2 R287Q (wild type for the other SNPs); or - Homozygous for CYP2J2*7 (wild type for the other SNPs) EXCLUSION CRITERIA: 1. --- K55R --- --- R287Q ---

- INCLUSION CRITERIA: 1. Age 18 to 65 years, inclusive (males and females) 2. Able to travel to the NIEHS CRU for required study visits 3. Able to present a valid government-issued form of identification for entry to the NIEHS campus 4. Able to fast for 8 hours prior to the visit where bronchoscopy occurs 5. Has a responsible party who is willing and able to attend Visit 2 and drive the participant away from the CRU after completion of Visit 2, if the participant elects to undergo conscious sedation 6. Genotype information available for relevant CYP2J2 and EPHX2 polymorphisms, which indicates: - Wild type with respect to EPHX2 K55R, EPHX2 R287Q, and CYP2J2*7; or - Homozygous for EPHX2 K55R (wild type for the other SNPs); or - Homozygous for EPHX2 R287Q (wild type for the other SNPs); or - Homozygous for CYP2J2*7 (wild type for the other SNPs) EXCLUSION CRITERIA: 1. --- K55R --- --- R287Q --- --- K55R --- --- R287Q ---

EXCL 4. Any food or fluids for 8 hours prior to the bronchoscopy - INCLUSION CRITERIA: 1. Age 18 to 65 years, inclusive (males and females) 2. Able to travel to the NIEHS CRU for required study visits 3. Able to present a valid government-issued form of identification for entry to the NIEHS campus 4. Able to fast for 8 hours prior to the visit where bronchoscopy occurs 5. Has a responsible party who is willing and able to attend Visit 2 and drive the participant away from the CRU after completion of Visit 2, if the participant elects to undergo conscious sedation 6. Genotype information available for relevant CYP2J2 and EPHX2 polymorphisms, which indicates: - Wild type with respect to EPHX2 K55R, EPHX2 R287Q, and CYP2J2*7; or - Homozygous for EPHX2 K55R (wild type for the other SNPs); or - Homozygous for EPHX2 R287Q (wild type for the other SNPs); or - Homozygous for CYP2J2*7 (wild type for the other SNPs) EXCLUSION CRITERIA: 1. --- K55R --- --- R287Q ---

EXCL 4. Any food or fluids for 8 hours prior to the bronchoscopy - INCLUSION CRITERIA: 1. Age 18 to 65 years, inclusive (males and females) 2. Able to travel to the NIEHS CRU for required study visits 3. Able to present a valid government-issued form of identification for entry to the NIEHS campus 4. Able to fast for 8 hours prior to the visit where bronchoscopy occurs 5. Has a responsible party who is willing and able to attend Visit 2 and drive the participant away from the CRU after completion of Visit 2, if the participant elects to undergo conscious sedation 6. Genotype information available for relevant CYP2J2 and EPHX2 polymorphisms, which indicates: - Wild type with respect to EPHX2 K55R, EPHX2 R287Q, and CYP2J2*7; or - Homozygous for EPHX2 K55R (wild type for the other SNPs); or - Homozygous for EPHX2 R287Q (wild type for the other SNPs); or - Homozygous for CYP2J2*7 (wild type for the other SNPs) EXCLUSION CRITERIA: 1. --- K55R --- --- R287Q --- --- K55R --- --- R287Q ---

Primary Outcomes

Description: The primary outcome measure will evaluate macrophage phagocytosis of fluorescein isothiocyanate (FITC)-labeled beads and bacteria (Streptococcus pneumoniae) in an ex vivo assay, comparing alveolar macrophages from groups of individuals with and without EPHX2 and CYP2J2 polymorphisms of interest.

Measure: The primary outcome measure will evaluate macrophage phagocytosis of fluorescein isothiocyanate (FITC)-labeled beads and bacteria (Streptococcus pneumoniae) in an ex vivo assay, comparing alveolar macrophages from groups of individuals with and ...

Time: Cross-sectional

Secondary Outcomes

Description: Macrophage phagocytosis of FITC-labeled beads and bacteria (S. pneumoniae) in an ex vivo assay, comparing peripheral blood monocyte derived macrophages from groups of individuals with and without EPHX2 and CYP2J2 polymorphisms of interest

Measure: A

Time: Cross-sectional

Description: Ex vivo gene expression of inflammatory receptors [e.g., toll-like receptor (TLR) 2 and peptidoglycan recognition protein (PGLYRP) 1] and cytokines [e.g., interleukin (IL) -1beta, IL-6, and tumor necrosis factor (TNF)-alpha] in stimulated macrophages (alveolar and peripheral blood monocytederived)

Measure: B

Time: Cross-sectional

Description: Assessment of the lower airway microbiome from BAL fluid

Measure: C

Time: Cross-sectional

Description: Eicosanoid [EET and dihydroxyeicosatrienoic acids (DHET)] and cytokine (e.g., IL- 1beta, IL-6, and TNF-alpha) levels in serum and BAL

Measure: D

Time: Cross-sectional

Description: Differences in effect of functional polymorphisms on macrophage function, comparing interferon (IFN)- gamma-derived (M1) versusIL-4-derived (M2) macrophages

Measure: E

Time: Cross-sectional


HPO Nodes


Pneumonia
Genes 208
TIMM8A DNAH9 GAS8 DNAH11 TNFRSF11A TBC1D24 SPAG1 MS4A1 GAS2L2 CCDC151 NIPBL BTK LIG4 NFKB2 TCIRG1 IGLL1 RNF168 STAT3 TAF1 RSPH4A CFTR NME8 DNAAF4 LEP CCDC65 NADK2 CD55 COL11A2 NHLRC1 PEPD CFAP300 LTBP3 WAS DNAI1 TBCD IL2RG GFI1 NBN RSPH1 CCDC39 PMM2 ICOS TNFSF12 IFNGR1 CARD11 SFTPC DNAL1 OFD1 ZMYND10 IL21R FMO3 SLC35A1 PLOD1 ORC6 RAG2 CACNA1C GAS8 RYR1 CFAP298 GNPTAB TNFRSF13B KDM6A PANK2 RANBP2 CYBA USB1 UBB DOCK8 ADA DNAAF2 KMT2D SAMD9 MUC5B IL7R DNAAF1 ICOS RAG2 CARD11 PTPRC ALMS1 NOTCH3 NSMCE3 DNAI1 TNFRSF13C GRHL3 EGFR IL2RG DNAAF6 PNP DNAH5 SETBP1 CR2 CD3E ADA MASP2 SFTPA2 ACTA1 RAC1 TTC25 FCGR2A ZAP70 SPEF2 IGHM DNAAF5 NBN CD247 DDR2 CD19 ACADVL KIAA0586 TK2 BLNK ARMC4 SGCG RAG1 CXCR4 NCF1 SRP54 FOXP3 IRF8 CFAP221 RNU4ATAC KCNJ6 LRBA CD3D P4HTM SELENON CCDC114 TNFRSF13B PLG DCLRE1C SLC25A24 DCLRE1C ICOS IL7R FOXJ1 JAK3 IL2RG CASP8 RAG1 OSTM1 CFAP410 CCNO NCF2 UNC119 TNFRSF13C JAK3 RNF125 STK36 POLA1 CD19 CR2 DNAH1 RSPH3 RSPH9 CYBB DRC1 DCLRE1C CCDC103 DNAAF3 LRRC56 PIGN LRRC6 SP110 PRKCD ACP5 CCDC40 SLC35C1 BTK MTHFD1 PGM3 RAG1 TERT CHD7 CFB TGFB1 RNU4ATAC SMARCD2 NKX2-1 OFD1 ZBTB24 BTK DNAI2 WDR19 ZAP70 CD79B CD81 COL11A2 NFIX RAG2 ELANE AFF4 NFKB1 IL2RG TNFRSF13C TNFSF12 CCDC114 ADA GBA DNAJB13 RPGR CSPP1 RMRP EPM2A DNMT3B NFKB2 MCIDAS HYDIN