Related Experiment Video

Updated: Jun 28, 2026

Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis
07:56

Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis

Published on: June 10, 2022

Clinical correlates and heritability of cystatin C (from the Framingham Offspring Study)

Nisha I Parikh1, Shih-Jen Hwang, Qiong Yang

  • 1National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, Massachusetts, USA.

The American Journal of Cardiology
|October 23, 2008
PubMed

Insights

High levels of Cystatin C (CysC) correlate with cardiovascular disease (CVD) risk factors, even without chronic kidney disease (CKD). These associations may explain CysC

Area of Science:

  • Clinical Biochemistry
  • Cardiovascular Medicine
  • Nephrology

Background:

  • Cystatin C (CysC) is recognized as a biomarker linked to cardiovascular disease (CVD) and chronic kidney disease (CKD).
  • Understanding the clinical correlates and genetic basis of CysC is crucial for its interpretation in disease risk assessment.

Purpose of the Study:

  • To investigate the clinical factors associated with elevated Cystatin C (CysC) levels.
  • To determine the heritability of CysC.
  • To examine whether the relationship between CVD risk factors and CysC is modified by the presence of CKD.

Main Methods:

  • Analysis of data from the Framingham Heart Study offspring cohort (n=3,241).
  • Development of a 95th percentile cut-point for high CysC in a healthy subset, excluding participants with prevalent CVD, CKD, and other risk factors.
  • Multivariable logistic regression to assess associations between CVD risk factors and high CysC; variance-components method for heritability estimation in a family-based subset (n=1,188).

Main Results:

  • A cut-point for high CysC was established at 1.07 mg/L.
  • Age, hypertension treatment, low diastolic blood pressure, body mass index, low high-density lipoprotein cholesterol, and smoking were significantly associated with high CysC.
  • These factors, along with estimated glomerular filtration rate (eGFR), explained 39.2% of CysC variability. Heritability of CysC was estimated at 0.35 (p <0.001). Associations remained consistent when CKD was excluded.

Conclusions:

  • Elevated Cystatin C (CysC) is associated with multiple cardiovascular disease (CVD) risk factors, independent of chronic kidney disease (CKD) status.
  • The strong link between CysC and CVD risk factors provides a potential explanation for CysC's predictive power in incident CVD.

More Related Videos

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Heritability01:06

Heritability

Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic" a trait is,...
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...