Cardiovascular DiseasesNCT00005377
Molecular Epidemiology of Essential Hypertension
An observational study of Cardiovascular Diseases and Heart Diseases, run by The University of Texas Health Science Center, Houston.
Trial summary
To localize individual genes, called blood pressure quantitative trait genes [BPQTGs], which influence blood pressure levels in the population-at- large, and to determine if these genes are able to predict the occurrence of essential hypertension or coronary artery disease. Read more about this study
- Who is it for?
- Ages 0 to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- Cardiovascular Diseases, Heart Diseases, Coronary Disease
- How many people
- 573 participants
- Where
- No sites listed yet
- Study dates
- Jul 1994to May 2009
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 100 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Members of 573 randomly-ascertained multigeneration pedigrees from the Rochester Family Heart Study
No eligibility criteria
About this study
To localize individual genes, called blood pressure quantitative trait genes [BPQTGs], which influence blood pressure levels in the population-at- large, and to determine if these genes are able to predict the occurrence of essential hypertension or coronary artery disease.
Read the detailed description
BACKGROUND:
Essential hypertension reaches epidemic proportions among adults and is a significant risk factor for premature coronary artery disease [CAD] and stroke. The research to localize BPQTGs represents an initial step toward applying DNA information to early identification of at-risk individuals and understanding the complex relationships among blood pressure, essential hypertension, and coronary artery disease.
DESIGN NARRATIVE:
The study has four aims. Aim 1 uses robust sibling pair linkage methods, parental marker data, and office blood pressure levels measured on 1,376 full sibling pairs to localize BPQTGs to regions of the human genome marked by highly polymorphic tandem repeat loci in or very near to 59 genes involved in blood pressure regulation. These genes were selected based on their involvement in the renin/angiotensin system, ion transport, cardiac physiology, biometabolism of neurotransmitters, or carbohydrate and lipid metabolism. At each gene, a highly polymorphic tandem repeat marker locus has already been identified. Aim 2 uses methods of association analysis for related individuals and office blood pressure levels measured on 587 full sibships to localize BPQTGs to regions of the human genome marked by the 59 candidate BPQTGs. Aim 3 determines if variation in these BPQTGs improves the ability to predict differences in blood pressure levels in a sample of 1,166 unrelated normotensive adults or essential hypertension status in a sample of 1,160 unrelated grandparents beyond that provided by established predictors. Aim 4 determines if variation in these BPQTGs improves the ability to predict symptomatic or asymptomatic coronary artery disease status beyond that provided by established predictors including blood pressure and essential hypertension. Aims 3 and 4 also ask whether the predictive relationship of the traditional risk factors to blood pressure, essential hypertension, or coronary artery disease is different among genotypes at these BPQTGs.
The study was renewed in FY 1999 to continue data analysis.
- Medical subject headings
- Cardiovascular Diseases, Heart Diseases, Coronary Disease, Hypertension
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 May 2000 (estimated)
- Study startJul 1994
- Primary completionMay 2009
- Study completionMay 2009
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (21)Papers the sponsor has linked to this study.
- Other trials for Cardiovascular DiseasesStudies of the same condition, open and under way.
- More trials run by The University of Texas Health Science Center, HoustonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Retrospective
- Enrolment
- 573 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Responsible party
- Principal investigator, Eric Boerwinkle, The University of Texas Health Science Center, Houston
- Investigators
- Eric Boerwinkle, Ph.D, Principal investigator, University of Texas
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00005377
- Sponsor's protocol ID
- 4275
- Other IDs
- R37HL051021-15
- Status last verified
- Sep 2021
- First submitted
- 25 May 2000
- Last updated
- 1 Oct 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Boerwinkle E. A contemporary research paradigm for the genetic analysis of a common chronic disease. Ann Med. 1996 Oct;28(5):451-7. doi: 10.3109/07853899608999107.
PubMed 8949978Boerwinkle E, Ellsworth DL, Hallman DM, Biddinger A. Genetic analysis of atherosclerosis: a research paradigm for the common chronic diseases. Hum Mol Genet. 1996;5 Spec No:1405-10. doi: 10.1093/hmg/5.supplement_1.1405.
PubMed 8875244Turner ST, Boerwinkle E, Sing CF. Context-dependent associations of the ACE I/D polymorphism with blood pressure. Hypertension. 1999 Oct;34(4 Pt 2):773-8. doi: 10.1161/01.hyp.34.4.773.
PubMed 10523359Xiong MM, Krushkal J, Boerwinkle E. TDT statistics for mapping quantitative trait loci. Ann Hum Genet. 1998 Sep;62(Pt 5):431-52. doi: 10.1046/j.1469-1809.1998.6250431.x.
PubMed 10088040Krushkal J, Ferrell R, Mockrin SC, Turner ST, Sing CF, Boerwinkle E. Genome-wide linkage analyses of systolic blood pressure using highly discordant siblings. Circulation. 1999 Mar 23;99(11):1407-10. doi: 10.1161/01.cir.99.11.1407.
PubMed 10086961Hallman DM, Ellsworth DL, Boerwinkle E. Molecular and genetic approaches to the study of cardiovascular disease. J Cardiovasc Risk. 1997 Oct-Dec;4(5-6):325-31. No abstract available.
PubMed 9865662Krushkal J, Xiong M, Ferrell R, Sing CF, Turner ST, Boerwinkle E. Linkage and association of adrenergic and dopamine receptor genes in the distal portion of the long arm of chromosome 5 with systolic blood pressure variation. Hum Mol Genet. 1998 Sep;7(9):1379-83. doi: 10.1093/hmg/7.9.1379.
PubMed 9700190Page GP, Amos CI, Boerwinkle E. The quantitative LOD score: test statistic and sample size for exclusion and linkage of quantitative traits in human sibships. Am J Hum Genet. 1998 Apr;62(4):962-8. doi: 10.1086/301783.
PubMed 9529341Fornage M, Amos CI, Kardia S, Sing CF, Turner ST, Boerwinkle E. Variation in the region of the angiotensin-converting enzyme gene influences interindividual differences in blood pressure levels in young white males. Circulation. 1998 May 12;97(18):1773-9. doi: 10.1161/01.cir.97.18.1773.
PubMed 9603530Amos CI, Krushkal J, Thiel TJ, Young A, Zhu DK, Boerwinkle E, de Andrade M. Comparison of model-free linkage mapping strategies for the study of a complex trait. Genet Epidemiol. 1997;14(6):743-8. doi: 10.1002/(SICI)1098-2272(1997)14:63.0.CO;2-O.
PubMed 9433571Ellsworth DL, Hallman DM, Boerwinkle E. Impact of the Human Genome Project on epidemiologic research. Epidemiol Rev. 1997;19(1):3-13. doi: 10.1093/oxfordjournals.epirev.a017943. No abstract available.
PubMed 9360897Turner ST, Boerwinkle E. Genetics of hypertension, target-organ complications, and response to therapy. Circulation. 2000 Nov 14;102(20 Suppl 4):IV40-5. doi: 10.1161/01.cir.102.suppl_4.iv-40. No abstract available.
PubMed 11080130Bray MS, Li L, Turner ST, Kardia SL, Boerwinkle E. Association and linkage analysis of the alpha-adducin gene and blood pressure. Am J Hypertens. 2000 Jun;13(6 Pt 1):699-703. doi: 10.1016/s0895-7061(00)00242-9.
PubMed 10912756Klos KL, Kardia SL, Ferrell RE, Turner ST, Boerwinkle E, Sing CF. Genome-wide linkage analysis reveals evidence of multiple regions that influence variation in plasma lipid and apolipoprotein levels associated with risk of coronary heart disease. Arterioscler Thromb Vasc Biol. 2001 Jun;21(6):971-8. doi: 10.1161/01.atv.21.6.971.
PubMed 11397706Stengard JH, Clark AG, Weiss KM, Kardia S, Nickerson DA, Salomaa V, Ehnholm C, Boerwinkle E, Sing CF. Contributions of 18 additional DNA sequence variations in the gene encoding apolipoprotein E to explaining variation in quantitative measures of lipid metabolism. Am J Hum Genet. 2002 Sep;71(3):501-17. doi: 10.1086/342217. Epub 2002 Aug 5.
PubMed 12165926
Study at a glance
From the registry record, last updated by the sponsor on 1 Oct 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Molecular Epidemiology of Essential Hypertension
- ClinicalTrials.gov ID
- NCT00005377
- Acronym / sponsor ID
- 4275
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 573 participants (actual)
- Lead sponsor
- The University of Texas Health Science Center, HoustonUniversity, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Study start
- Jul 1994
- Primary completion
- May 2009 (actual)
- Study completion
- May 2009 (actual)
- First posted
- 26 May 2000 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
To localize individual genes, called blood pressure quantitative trait genes [BPQTGs], which influence blood pressure levels in the population-at- large, and to determine if these genes are able to predict the occurrence of essential hypertension or coronary artery disease.
Detailed description
BACKGROUND:
Essential hypertension reaches epidemic proportions among adults and is a significant risk factor for premature coronary artery disease [CAD] and stroke. The research to localize BPQTGs represents an initial step toward applying DNA information to early identification of at-risk individuals and understanding the complex relationships among blood pressure, essential hypertension, and coronary artery disease.
DESIGN NARRATIVE:
The study has four aims. Aim 1 uses robust sibling pair linkage methods, parental marker data, and office blood pressure levels measured on 1,376 full sibling pairs to localize BPQTGs to regions of the human genome marked by highly polymorphic tandem repeat loci in or very near to 59 genes involved in blood pressure regulation. These genes were selected based on their involvement in the renin/angiotensin system, ion transport, cardiac physiology, biometabolism of neurotransmitters, or carbohydrate and lipid metabolism. At each gene, a highly polymorphic tandem repeat marker locus has already been identified. Aim 2 uses methods of association analysis for related individuals and office blood pressure levels measured on 587 full sibships to localize BPQTGs to regions of the human genome marked by the 59 candidate BPQTGs. Aim 3 determines if variation in these BPQTGs improves the ability to predict differences in blood pressure levels in a sample of 1,166 unrelated normotensive adults or essential hypertension status in a sample of 1,160 unrelated grandparents beyond that provided by established predictors. Aim 4 determines if variation in these BPQTGs improves the ability to predict symptomatic or asymptomatic coronary artery disease status beyond that provided by established predictors including blood pressure and essential hypertension. Aims 3 and 4 also ask whether the predictive relationship of the traditional risk factors to blood pressure, essential hypertension, or coronary artery disease is different among genotypes at these BPQTGs.
The study was renewed in FY 1999 to continue data analysis.
Study design
- Observational model
- Family based
- Time perspective
- Retrospective
Who may qualify
- Ages
- 0 to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Members of 573 randomly-ascertained multigeneration pedigrees from the Rochester Family Heart Study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Oct 2021.
- Background: PubMed 8949978Boerwinkle E. A contemporary research paradigm for the genetic analysis of a common chronic disease. Ann Med. 1996 Oct;28(5):451-7. doi: 10.3109/07853899608999107.
- Background: PubMed 8875244Boerwinkle E, Ellsworth DL, Hallman DM, Biddinger A. Genetic analysis of atherosclerosis: a research paradigm for the common chronic diseases. Hum Mol Genet. 1996;5 Spec No:1405-10. doi: 10.1093/hmg/5.supplement_1.1405.
- Background: PubMed 10523359Turner ST, Boerwinkle E, Sing CF. Context-dependent associations of the ACE I/D polymorphism with blood pressure. Hypertension. 1999 Oct;34(4 Pt 2):773-8. doi: 10.1161/01.hyp.34.4.773.
- Background: PubMed 10088040Xiong MM, Krushkal J, Boerwinkle E. TDT statistics for mapping quantitative trait loci. Ann Hum Genet. 1998 Sep;62(Pt 5):431-52. doi: 10.1046/j.1469-1809.1998.6250431.x.
- Background: PubMed 10086961Krushkal J, Ferrell R, Mockrin SC, Turner ST, Sing CF, Boerwinkle E. Genome-wide linkage analyses of systolic blood pressure using highly discordant siblings. Circulation. 1999 Mar 23;99(11):1407-10. doi: 10.1161/01.cir.99.11.1407.
- Background: PubMed 9865662Hallman DM, Ellsworth DL, Boerwinkle E. Molecular and genetic approaches to the study of cardiovascular disease. J Cardiovasc Risk. 1997 Oct-Dec;4(5-6):325-31. No abstract available.
- Background: PubMed 9700190Krushkal J, Xiong M, Ferrell R, Sing CF, Turner ST, Boerwinkle E. Linkage and association of adrenergic and dopamine receptor genes in the distal portion of the long arm of chromosome 5 with systolic blood pressure variation. Hum Mol Genet. 1998 Sep;7(9):1379-83. doi: 10.1093/hmg/7.9.1379.
- Background: PubMed 9529341Page GP, Amos CI, Boerwinkle E. The quantitative LOD score: test statistic and sample size for exclusion and linkage of quantitative traits in human sibships. Am J Hum Genet. 1998 Apr;62(4):962-8. doi: 10.1086/301783.
- Background: PubMed 9603530Fornage M, Amos CI, Kardia S, Sing CF, Turner ST, Boerwinkle E. Variation in the region of the angiotensin-converting enzyme gene influences interindividual differences in blood pressure levels in young white males. Circulation. 1998 May 12;97(18):1773-9. doi: 10.1161/01.cir.97.18.1773.
- Background: PubMed 9433571Amos CI, Krushkal J, Thiel TJ, Young A, Zhu DK, Boerwinkle E, de Andrade M. Comparison of model-free linkage mapping strategies for the study of a complex trait. Genet Epidemiol. 1997;14(6):743-8. doi: 10.1002/(SICI)1098-2272(1997)14:63.0.CO;2-O.
- Background: PubMed 9360897Ellsworth DL, Hallman DM, Boerwinkle E. Impact of the Human Genome Project on epidemiologic research. Epidemiol Rev. 1997;19(1):3-13. doi: 10.1093/oxfordjournals.epirev.a017943. No abstract available.
- Background: PubMed 11080130Turner ST, Boerwinkle E. Genetics of hypertension, target-organ complications, and response to therapy. Circulation. 2000 Nov 14;102(20 Suppl 4):IV40-5. doi: 10.1161/01.cir.102.suppl_4.iv-40. No abstract available.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Eric Boerwinkle, Ph.D principal investigator
University of Texas
Questions about this trial
What is this clinical trial studying?
An observational study of Cardiovascular Diseases and Heart Diseases, run by The University of Texas Health Science Center, Houston.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 1 Oct 2021. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00005377, which also lists 21 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Oct 2021.