Study on Chronic Kidney Disease

A recent population-based study conducted in the Netherlands suggests that individuals who had a first-degree relative or spouse with a history of chronic kidney disease (CKD) were at greater risk for developing CKD. The study findings are published in the American Journal of Kidney Disease on December 22, 2020.

Chronic kidney disease (CKD) is recognized as a global public health problem, with prevalence ranging between 3.3% and 17.3% in adult European populations. Several knowledge gaps exist with regards to the genetic contribution to CKD susceptibility in the general population. For example, most familial aggregation studies on CKD focused on its later stages, i.e., kidney failure (or end-stage kidney disease, ESKD) using medical records and registry data. Focusing on early-stage CKD rather than ESKD may have added value for risk stratification. Previous study findings are uncertain as the sample size is small with specific populations and lack of generalization. Therefore, heritability estimates from a large, representative sample of the general population are needed. For this purpose, researchers of the University of Groningen, Netherlands conducted a study to quantify familial aggregation of CKD in the general population and assess the extent to which kidney traits can be explained by genetic and environmental factors.

It was a cross-sectional three-generation family study. Researchers used data from the Lifelines Cohort Study, which included a sample of 155,911 individuals with eGFR information. The major outcome assessed was CKD, estimated by the CKD-EPI equation for serum creatinine, and defined as eGFR < 60 mL/min/1.73 m². Adjustments were made for BMI, hypertension, diabetes, hypercholesterolemia, history of cardiovascular disease, and smoking status.

Upon analysis, researchers found CKD risk was three times higher for individuals with a first-degree relative who had CKD. The risk was 1.56 times higher for those who had a spouse with CKD, which indicates the role of shared environmental factors and/or assortative mating. They observed heritability estimates of eGFR, UAE, and UACR were 44%, 20%, and 18% respectively. For serum urea, creatinine, and uric acid, estimates were 31%, 37%, and 48%, respectively, while estimates for serum electrolytes ranged 22%-28%.

The authors concluded, "In this large population-based family study, positive family history was strongly associated with increased risk of CKD. We observed moderate to high heritability of kidney traits and related biomarkers. These results indicate an important role of genetic factors in CKD risk".

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