The population frequency of predicted pathogenic genetic variants in commonly affected CAKUT genes in the general population

Description

Huang and Savige calculated how common harmful variants in six kidney development genes are in the general population. Birth defects of the kidney and urinary tract affect about one in 200 people, and roughly a fifth have a single-gene cause. The authors mined two large public genome databases for predicted disease-causing variants in the six genes most often blamed. Together the databases cover nearly a million people.

Depending on how strictly variants were counted, between one in 249 and one in 1,263 people carried such a variant in the first database, with a similar range on recheck. Rates were highest in people of African-American ancestry and lowest in Ashkenazi Jewish groups. The authors conclude these genetic causes are likely more common than the often-quoted one in a thousand. Some carriers, they note, will never become ill, because the variants do not always take effect.

Catalog record

Source: https://europepmc.org/articles/PMC13481559