Year: 2025
Type: article
Abstract: We mapped the entire genome-6 million nucleotides associated with kidney function-of each individual systematically," Susztak said."Most of the variations that explain kidney function heritability are identified by our study."The massive effort paid off by allowing the study to reach the so-called saturation point, of which Susztak and colleagues believe they have identified nearly all genetic variations contributing to kidney diseases.The team identified 1026 genetic variations linked to kidney function, including 97 new ones.Then, through a series of additional experiments in smaller cohorts, they explored how these mutations contribute to gene regulation, such as open chromatin, and their patterns of expression in individual cell types.Thereafter, they assembled these data into a kidney scorecard tool that other scientists can use."The magnitude of what [the team] accomplished was impressive," said Matthew Sampson, MD, MSCE, the Warren E. Grupe Chair of Pediatric Nephrology at Boston Children's Hospital, associate professor of pediatrics at Harvard Medical School, and associate member of the Broad Institute."There are a lot of smart people in nephrologyphysician-scientists and investigators-around the world who, given access to high-quality data such as [these], could make great inferences and really advance their discoveries.But it's a limited number of folks in the world who [like Susztak and her team] can generate this high-quality data."
Source: Kidney News
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4409212348