Detection of novel genetic variants within the aquaporins 1 and 5

ISRCTN ISRCTN55161632
DOI https://doi.org/10.1186/ISRCTN55161632
Secondary identifying numbers N/A
Submission date
06/05/2009
Registration date
03/07/2009
Last edited
03/07/2009
Recruitment status
No longer recruiting
Overall study status
Completed
Condition category
Respiratory
Prospectively registered
Protocol
Statistical analysis plan
Results
Individual participant data

Plain English summary of protocol

Not provided at time of registration

Contact information

Dr Michael Adamzik
Scientific

Klinik fur Anasthesiologie und Intensivmedizin
Hufelandstrasse 55
Essen
45122
Germany

Study information

Study designObservational single-centre case-control study
Primary study designObservational
Secondary study designCase-control study
Study setting(s)Hospital
Study typeDiagnostic
Scientific titleDetection of novel genetic polymorphisms (single nucleotide polymorphisms [SNPs]) within the aquaporins 1 and 5: an observational single-centre study
Study objectivesWe hypothesised that single nucleotide polymorphisms (SNPs) within the aquaporins 1 and 5 contribute to the phenotypic variability of acute respiratory distress syndrome (ARDS), sepsis or bronchial asthma.
Ethics approval(s)Local ethics committee (Vorsitzender der Ethikkommission, Institut für Pharmakologie, Universitätsklinikum Essen) approved on the 9th December 2002 (ref: 01-97-1697, 05-2776, 06-3078, 07-3313)
Health condition(s) or problem(s) studiedAquaporines, cell migration and inflammation
InterventionThe following analyses will be performed on each participant:
1. Deoxyribonucleic acid (DNA) extraction from rest material of the routine diagnostic, e.g., saliva, urine or blood
2. Identification of novel DNA polymorphisms through sequencing polymerase chain reaction (PCR) products of the AQP1 and 5 promoter. The method of "slowdown PCR" should be used to amplify promoter fragments with extremely high GC content (greater than 85%).
3. Determination of transcriptional activity of haplotypes by reporter assays in different cell lines
4. Haplotype-dependent analysis of radiation and chemotherapeutics on cell proliferation in cell systems
5. Haplotype-dependent analysis of messenger ribonucleic acid (mRNA) level by quantitative real time PCR
6. Haplotype-dependent analysis of protein level by Western Blot
7. Haplotype-dependent analysis of cell migration
8. Haplotype-dependent analysis of transcription factors which bind to the polymorphic regions by electrophoretic mobility shift assay (EMSA)
9. Genotyping of ARDS, sepsis, bronchial asthma patients and healthy caucasian subjects by restriction fragment length polymorphism (RFLP) and pyrosequencing and haplotype-dependent analysis of survival and disease course using SPSS and GraphPad Prism software
Intervention typeOther
Primary outcome measureDetection of SNPs wthin the Aqquaporin 1 and 5 gen which contribute to the phenotypic variability of ARDS, sepsis and bronchial asthma, measured at 30 day survival and 100 day survival
Secondary outcome measuresAnalysis of survival, disease course and rehabilitation, measured at 30 day survival and 100 day survival
Overall study start date01/01/2005
Completion date01/01/2011

Eligibility

Participant type(s)Patient
Age groupAdult
Lower age limit18 Years
SexBoth
Target number of participants200 healthy caucasian subjects, 150 ARDS-, 200 sepsis- and 100 bronchial asthma patients
Key inclusion criteria1. Acute respiratory distress syndrome:
1.1. Timing: acute onset
1.2. Oxygenation: partial pressure of oxygen in arterial blood (PaO2)/fraction of inspired oxygen (FiO2) ratio less than 200 mmHg (regardless of positive end expiratory pressure [PEEP])
1.3. Chest radiograph: bilateral infiltrates seen on frontal chest radiograph
1.4. Pulmonary artery wedge (PAW): less than 18 mmHg when measured or no clinical evidence of left atrial hypertension
2. Lung function testing with body plethysmography-revealed bronchial asthma
3. Patients with severe sepsis
4. Aged 18 to 70 years, both genders
Key exclusion criteriaNo written informed consent is obtained
Date of first enrolment01/01/2005
Date of final enrolment01/01/2011

Locations

Countries of recruitment

  • Germany

Study participating centre

Klinik fur Anasthesiologie und Intensivmedizin
Essen
45122
Germany

Sponsor information

German Research Council (Deutsche Forschungsgemeinschaft [DFG]) (Germany)
Research council

c/o Dr Simone Mueller
Lebenswissenschaften 1
Geschaftsstelle
Kennedyallee 40
Bonn
53170
Germany

Website http://www.dfg.de/
ROR logo "ROR" https://ror.org/018mejw64

Funders

Funder type

Research council

German Research Council (Deutsche Forschungsgemeinschaft [DFG]) (Germany) - pending as of 06/05/2009

No information available

Results and Publications

Intention to publish date
Individual participant data (IPD) Intention to shareNo
IPD sharing plan summaryNot provided at time of registration
Publication and dissemination planNot provided at time of registration
IPD sharing plan

Study outputs

Output type Details Date created Date added Peer reviewed? Patient-facing?
Results article results 01/11/2008 Yes No