Hunting for Genetic Causes of Kidney Disease in Asia
“The prevalence of genetic glomerular and kidney cystic diseases is largely understudied in many Asian countries,” says Dr. Kar Hui Ng. “Many large studies conducted elsewhere, for example in Europe, report rates of these diseases of about 20-30%; however, Asian people are underrepresented, even in international cohorts.”
Dr. Ng is a pediatric nephrologist in the National University Health System in Singapore and an associate professor at the National University of Singapore, where she studies the genetics of kidney diseases in children.
She also leads the Deciphering Diversities: Renal Asian Genetics Network (DRAGoN) study, a multi-center collaboration studying the genetics of glomerular and cystic diseases in children in Asia. The network comprises nephrologists, pediatricians, pathologists, geneticists, scientists, bioinformaticians, and biostatisticians. As part of this network, Dr. Ng collects phenotype data and blood samples from patients in Asian countries and carries out genetic testing on those blood samples.
There is already some evidence that the genetic causes of glomerular diseases in Asia differ from other parts of the world. The DRAGoN study seeks to uncover the genetic landscape of glomerular and cystic diseases in Asian people. Ultimately, this work could highlight commonly involved genes and the more prevalent variants in Asian people, leading to more cost-effective genetic testing strategies and more accurate processes for identifying genetic variants. The work also highlights the challenges of diagnosing and managing genetic kidney diseases in under-resourced settings.
In her talk at WNC’22, Dr. Ng will discuss the collagen IV genes that cause Alport syndrome and their unexpected higher prevalence among her Asian cohort. She says: “Faults in the collagen IV genes are important genetic causes of glomerular diseases in Asia. However, many of our patients do not Alport features, such as hearing loss, eye abnormalities, and glomerular basement membrane abnormalities, partly because these are not routinely checked for, especially in low-resource settings.
“Unlike in other studies, we have found that our older patients are more likely to have a genetic etiology, rather than the younger patients. We think this is partly due to a relatively higher prevalence of Alport genes among Asian people.”
The DRAGoN team is publishing results from the first phase of the research and starting data analysis from the second phase. They continue to recruit patients for the study while looking for more funding to continue the work.
Dr. Kar Hui Ng “Genetic Glomerular Diseases – The DRAGoN Network” in the theme symposium: “Genetics in CKD”, Sunday, February 27, 21:30-22:30 hrs Kuala Lumpur (Malaysia) time:
https://cm.theisn.org/cmPortal/searchable/WCN2022/config/normal#!sessiondetails/0000015450_0
