May 22, 2024
Chronic Kidney Disease

New Discoveries in the Genetic Variants of Chronic Kidney Disease

Scientists at Leipzig University, in collaboration with an international consortium, have made groundbreaking discoveries in the genetic variants associated with chronic kidney disease (CKD). By analyzing data from over 900,000 individuals, the study identified new genes that may play a role in the development and progression of CKD, with some effects showing significant differences between men and women. The findings have been published in the esteemed journal Nature Communications.

Chronic kidney disease affects approximately 10% of the global population and poses a significant burden on healthcare systems worldwide. Individuals with CKD are at higher risk of kidney failure, cardiovascular disease, and hospitalization. With the aging population, the prevalence of CKD is predicted to escalate, potentially becoming one of the top five leading causes of death by 2040.

The large-scale study conducted by Leipzig University involved scientists from various international study groups. They investigated genetic associations between variants of the X chromosome and selected parameters of kidney function. The researchers utilized blood samples and genetic information from more than 900,000 individuals, with 80% of participants being of European descent.

A total of 23 associations were identified, 16 of which related to the estimated glomerular filtration rate (eGFR) and seven to uric acid levels. The eGFR is a crucial indicator of kidney health, representing the amount of blood that the kidney’s glomeruli can filter in a given time period. The researchers discovered differing effects between men and women at six positions in the genome and successfully linked these effects to functionally plausible candidate genes.

Study analyst Katrin Horn from the Institute for Medical Informatics, Statistics, and Epidemiology (IMISE) at Leipzig University explained that the sex-specific differences may be attributed to the hormonal regulation of the associated genes. Understanding these differences paves the way for further investigations into the mechanisms of disease development and progression.

Professor Markus Scholz, the study leader from IMISE, expressed the significance of the findings in shedding light on the differing prevalence and progression rates of CKD between men and women. Scholz stated that this new understanding provides a basis for future research into the underlying mechanisms behind these phenomena.

The Leipzig scientists extensively examined X-chromosomal variants by analyzing mutations at approximately 270,000 positions on the chromosome. They then correlated these mutations with clinical kidney parameters. Tissue data was also utilized to verify the actual utilization of the genetic information. A targeted search for differences between sexes was conducted, leading to the discovery of sex-specific effects on kidney function.

These exciting discoveries contribute to advancing our knowledge of the genetic factors that influence chronic kidney disease. They offer invaluable insights into sex-specific differences and may eventually lead to tailored treatments and interventions for individuals with CKD. With further research, understanding the underlying mechanisms will provide new opportunities for managing and combating this debilitating condition.

1. Source: Coherent Market Insights, Public sources, Desk research
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