Analyzing the Association of Gene Variants With Increased Risk of Coronary Heart Disease in Women With Systemic Lupus Erythematosus

November 16, 2023 updated by: University of Pittsburgh

Prothrombin Gene Varitaion and Risk of SLE and CHD

Systemic lupus erythematosus (SLE) is an autoimmune disease that predominantly affects younger premenopausal women. The risk of coronary heat disease (CHD) in women with SLE is up to 50 times higher than in the general population. The conventional risk factors are insufficient to explain this increased risk of CHD in SLE-affected women. This study will perform genetic analysis to determine if genetic variation in the F2 gene is associated with both SLE risk and CHD risk in women with SLE.

Study Overview

Status

Completed

Conditions

Detailed Description

SLE is a condition of chronic inflammation of the internal organs, caused by an autoimmune disease. An autoimmune disease is a disorder in which the body's immune system attacks its own tissues through production of abnormal antibodies in the blood. Current treatments for SLE focus on reducing inflammation and production of unusual antibodies. While the exact cause of SLE is unknown, genetics, drugs, viruses, and ultraviolent light are all possible contributors. Previous genetic studies have determined that antiphospholipid antibodies (APA) are present in 50% of people with SLE compared with only 1 to 5% in the general U.S. white population. These antibodies interfere with standard blood vessel function, resulting in blood clots and narrowing of vessels. The F2 gene codes for prothrombin, a precursor of thrombin, which is a key enzyme in blood clotting. Prothrombin can be detected by APA as an antigen, resulting in anti-F2 antibodies. Recent studies have reported the association of F2 genetic variants with non-fatal heart attack, further suggesting that the F2 gene and APA play a role in CHD. In addition to being a biological candidate gene for CHD, F2 is also a positional candidate gene for SLE, as it is close to a region of linkage for SLE on chromosome 11. This study will perform genetic analysis to determine if genetic variation in the F2 gene is associated with both SLE risk and CHD risk in women with SLE.

Using genetic analysis techniques, this study will examine previously collected case-control samples of serum DNA. Study researchers will resequence the entire F2 gene and then examine the role of sequence variations in relation to SLE and the risk of CHD in SLE patients. Researchers will identify rare and common variants of the F2 gene and further screen variants to determine gene-trait relations.

Study Type

Observational

Enrollment (Actual)

1254

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

The study population will include genetic samples from women with SLE and CHD and from normal control women. The population will be 80.5% U.S. white women and 19.5% U.S. black women.

Description

Inclusion Criteria:

  • Diagnosis of SLE

Exclusion Criteria:

  • Pregnant

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Retrospective

Cohorts and Interventions

Group / Cohort
1
SLE participants positive for both APA and CHD
2
Normal participants with a high titer of APA

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Rare and common variants of F2 that contribute to SLE risk and CHD risk in SLE
Time Frame: Measured at Year 4
Measured at Year 4

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Pittsburgh

Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

Investigators

  • Principal Investigator: M. Ilyas Kamboh, PhD, University of Pittsburgh

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

May 1, 2000

Study Completion (Actual)

August 1, 2007

Study Registration Dates

First Submitted

November 21, 2007

First Submitted That Met QC Criteria

November 21, 2007

First Posted (Estimated)

November 26, 2007

Study Record Updates

Last Update Posted (Estimated)

November 17, 2023

Last Update Submitted That Met QC Criteria

November 16, 2023

Last Verified

March 1, 2014

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 1393
  • R01HL088648 (U.S. NIH Grant/Contract)
  • R01HL088648-01 (U.S. NIH Grant/Contract)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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