GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility.

What was studied

This review looked at the GBA1 gene and Parkinson's disease (PD). Gaucher disease can occur when both copies of GBA1 are changed. One changed copy can raise the risk of PD. For some GBA1 changes, the effect is not known. People with these are often kept out of clinical trials. The team pooled 34 studies. They held 24,060 people with PD and 14,465 people without.

What they found

They sorted the unknown changes with a set of rules called ACMG. Some unknown changes were rated as of uncertain meaning. These were linked to PD, with an odds ratio of 1.59. A wider group of changes also showed a link. It held uncertain, likely harmful and harmful changes. Its odds ratio was 1.63. The results did not vary between the studies.

What it means for patients

The authors say unknown GBA1 changes add only a modest amount to PD risk. They say trials may think about these changes for now. This holds if ACMG rules rate the change as uncertain, likely harmful or harmful.

Why it is not certain yet

The link the team found was modest. The authors call their view on trials provisional, meaning for now. The studies compared people with and without PD. Such studies show links, not proof of cause. A review can only be as good as the studies in it. The abstract does not say which trials this would change.

Source

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility.

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