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Report for Clinical Trial NCT00671892

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Role of TLR4 in Environmental Asthma

The overall goal of this project is to identify genes that are involved in the development of airflow obstruction and airway inflammation in asthmatics, and to determine whether polymorphisms in these differentially expressed genes predispose individuals to develop asthma. In this project, we hypothesize that polymorphisms of genes expressed by the airway epithelia in asthmatics following specific airway challenges predispose individuals to the development of asthma.

NCT00671892 Asthma
MeSH: Asthma
HPO: Asthma

1 Interventions

Name: Lipopolysaccharide endotoxin

Description: Delivered in nebulized form expressed in activity units(endotoxin units -EU). Subjects receive each dose 30 min after completing the previous dose, dose duration is approximately 10 minutes: Challenge One first saline then 5000 EU 10,000 EU 20,000 EU Challenge 1 and 2 must be at least 2 weeks apart. Challenge 2 Saline 40,000 EU 80,000 EU

Type: Biological

Challenge


Primary Outcomes

Measure: Ascertain individuals homozygous, and heterozygous for mutant TLR4 genotype, along with wild types by recruitment of healthy screening subjects in the community.

Time: completed

Secondary Outcomes

Measure: Assess the effect of TLR4 genotype on LPS endotoxin induced immune responses and assess the association of the LPS-induced immune response with LPS-induced airway responses.

Time: 24 hours

Purpose: Basic Science

Single Group Assignment


There are 2 SNPs

SNPs


1 D299G

We hypothesize that individuals with the co-segregating Asp299Gly and Thr399Ile mutations in the TLR4 gene will exhibit a defective immune response to LPS, and that specific components of altered immunity in these individuals are linked to characteristic airway responses to LPS. Specific Aim 1: Approximately 1000 individuals will be genotyped in order to establish 3 study groups: 10 subjects homozygous for the TLR4 299/399 mutation; 10 subjects heterozygous for the TLR4 299/399 mutation; and 10 subjects homozygous for wild type TLR 4. Specific Aim 2: Ten individuals with wild type TLR4, 10 individuals heterozygous for mutant TLR4 and 10 individuals homozygous for mutant TLR4 will be phenotyped for airway responsiveness to inhaled LPS. --- Asp299Gly ---


2 T399I

We hypothesize that individuals with the co-segregating Asp299Gly and Thr399Ile mutations in the TLR4 gene will exhibit a defective immune response to LPS, and that specific components of altered immunity in these individuals are linked to characteristic airway responses to LPS. Specific Aim 1: Approximately 1000 individuals will be genotyped in order to establish 3 study groups: 10 subjects homozygous for the TLR4 299/399 mutation; 10 subjects heterozygous for the TLR4 299/399 mutation; and 10 subjects homozygous for wild type TLR 4. Specific Aim 2: Ten individuals with wild type TLR4, 10 individuals heterozygous for mutant TLR4 and 10 individuals homozygous for mutant TLR4 will be phenotyped for airway responsiveness to inhaled LPS. --- Asp299Gly --- --- Thr399Ile ---



HPO Nodes


HPO:
Asthma
Genes 138
DNAH9 COL5A2 DNAH11 NFKB2 TDGF1 DDX41 SPAG1 ARMC4 GP1BA GAS2L2 CCDC151 ERCC2 TNF SPINK5 GP1BB GAS1 TGIF1 CCL11 CDON DLL1 CFAP221 PTGER2 TBX21 LRBA RSPH4A CFTR FLG NME8 DNAAF4 ZIC2 SCGB3A2 CCDC65 SDHD ADRB2 TBX1 GP1BB SIX3 IDS NODAL NSUN2 ELOVL4 PEPD CARMIL2 CFAP300 FGF8 GP9 FOXJ1 DNAI1 CASP8 DOCK8 CCDC151 DISP1 IL13 CCNO ALMS1 RSPH1 CCDC39 STK36 MUC7 NOD2 CARD11 CCDC28B DNAL1 DNAH1 ZMYND10 RSPH3 RSPH9 MS4A2 PLA2G7 HNMT DRC1 NKX2-1 SHH COL1A1 CCDC103 SPINK5 FGFR1 DNAAF3 MTOR HIRA LRRC56 LRRC6 GAS8 CFAP298 NEK9 CCDC40 IL4R PGM3 DOCK8 DNAAF2 GLI2 RREB1 TGFB1 PTCH1 GRHL2 SIK3 SCN4A BBS1 TALDO1 DNAAF1 NKX2-1 OFD1 TRAIP PLCG2 HLA-G COL5A1 ALMS1 DNAI2 BCL11B LIG4 GTF2H5 PGM3 ARVCF PEX5 CDSN SEC24C DNAAF6 DNAH5 CCDC114 ADA PLA2G7 JMJD1C DNAJB13 RPGR FOXH1 ALOX5 TTC25 FCGR2A TBX1 COMT COX4I2 UFD1 SPEF2 SUFU DNAAF5 LIFR MCIDAS HYDIN