Carriers of the p.P522R variant in PLCγ2 have a slightly more responsive immune system.

ABSTRACT:

Background

The rs72824905 single-nucleotide polymorphism in the PLCG2 gene, encoding the p.P522R residue change in Phospholipase C gamma 2 (PLCγ2), associates with protection against several dementia subtypes and with increased likelihood of longevity. Cell lines and animal models indicated that p.P522R is a functional hypermorph. We aimed to confirm this in human circulating peripheral immune cells.

Methods

We compared effects of p.P522R on immune system function between carriers and non-carriers (aged 59-103y), using in-depth immunophenotyping, functional B-cell and myeloid cell assays, and in vivo SARS-CoV-2 vaccination.

Results

In line with expectations, p.P522R impacts immune cell function only slightly, but it does so across a wide array of immune cell types. Up

SUBMITTER: Diks AM 

PROVIDER: S-EPMC10116473 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature