The population frequency of predicted pathogenic variants in the genes associated with Autosomal Dominant Polycystic Liver Disease (ADPLD) and kidney cysts
Santosh Varughese, Mary Huang, Judy Savige, Klaus Brusgaard · 2026
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Description
Santosh Varughese and three colleagues ask how common disease-causing variants in the polycystic liver disease genes are. Seven genes are implicated in autosomal dominant polycystic liver disease. The same genes appear on kidney panels because their variants can produce kidney cysts. Pulling variants from gnomAD, they counted loss-of-function and rare damaging changes under two strategies: their own rules and existing clinical classifications.
The answer surprised: predicted pathogenic variants appeared in one in ninety-one people by their criteria, and one in one hundred thirty by clinical database calls. The mildest genes, LRP5 and ALG8, contributed most. Frequencies varied by ancestry, reaching one in forty-three among African and African American participants versus one in one hundred eighty-seven among Europeans. The authors caution that, with incomplete penetrance, many carriers never develop cysts. These counts describe potential, not disease burden, and will sharpen as more genes emerge.
Catalog record
| CREATOR | Santosh Varughese, Mary Huang, Judy Savige, Klaus Brusgaard |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 26 KB |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |