Genetic Susceptibility to Cardiovascular Disease in Patients on Kidney Dialysis

2014-08-27 03:44:00 | BioPortfolio


This study, done in collaboration with Johns Hopkins University School of Public Health in Baltimore, Maryland, will examine the role of genes in the development of atherosclerotic cardiovascular disease (CVD) in patients undergoing kidney dialysis. The rate of illness and death from CVD among patients on dialysis is extraordinarily high, accounting for about 50 percent of deaths. Blood levels of inflammatory markers are elevated in these patients, strongly predicting illness and death from CVD. The discovery of gene variants related to the inflammatory process in atherosclerotic CVD may lead to better medical treatments and improved survival in patients with end-stage kidney disease.

Participants of John's Hopkins University's CHOICE (Choices for Healthy Outcomes in Caring for End-Stage Renal Disease) program are included in this study. Blood samples previously collected from these patients will be analyzed in the laboratory for genes that might be associated with the inflammatory process and atherogenesis.



The CHOICE (Choices for Healthy Outcomes in Caring for End stage renal disease) study is a national prospective cohort study of 1,041 incident dialysis patients aged 19 to 95 recruited in 81 dialysis clinics between October 1995 and June 1998, and is overseen by the Johns Hopkins University School of Public Health.

The discovery of genetic associations offers the potential to direct clinical management in order to prevent ASCVD (Atherosclerotic Cardiovascular Disease) and improve survival in patients with end stage renal disease (ESRD).


In Collaboration with investigators of the CHOICE cohort, we propose to assess the role of variants in genes related to the inflammatory process on atherosclerotic cardiovascular disease (ASCVD) incidence.


Eligibility is independent of age, race, ethnicity, and gender. However, no participants in this cohort are less than 19 years of age.


Frozen buffy coats from 871 patients will be sent to the LGD, and DNA will be extracted.

Singles nucleotide polymorphisms (SNPs) within coding regions, upstream or downstream regulatory regions or in intronic regions of candidates genes will be genotyped.

The first candidate genes under study include IL6, IL10, TGFB1, Beta Fibrinogen, LTA, and STAT3.

Blood samples and relevant clinical data will be provided by Johns Hopkins University School of Public Health, Department of Epidemiology with only numerical code which links samples and clinical data. While Johns Hopkins University will retain patient identifier information, the LGD will have no way of identifying the person from whom the blood, subsequent DNA, and clinical data are obtained.

The samples are maintained in our repository and curated through our central Laboratory database.

Destruction or loss of clinical samples or data will be recorded in our database and cannot impact the study participants in any way.

At the completion of this protocol, we will retain the samples for future use. We understand that studies subsequent to the completion of this protocol will require additional OHSR/IRB approval prior to commencement.

Study Design



End Stage Renal Disease


Johns Hopkins University
United States




National Institutes of Health Clinical Center (CC)

Results (where available)

View Results


Published on BioPortfolio: 2014-08-27T03:44:00-0400

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Medical and Biotech [MESH] Definitions

Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)

Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.

Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed.

KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE.

The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.

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