PLoS GeneticsGeneticsPeer-reviewed journal article
Paired Immunoglobulin-like Type 2 Receptor Alpha G78R variant alters ligand binding and confers protection to Alzheimer’s disease
Nisha RathoreiD, Sree Ranjani Ramani, Homer PantuaiD, Jian PayandehiD, Tushar BhangaleiD, Arthur WüsteriD, Manav KapooriD, Yonglian SuniD, Sharookh B. KapadiaiD, Lino C. Gonzalez, Ali A. ZarriniD, Alison GoateiD, David HanseniD, Timothy W. BehrensiD, Robert GrahamiD
Abstract
Paired Immunoglobulin-like Type 2 Receptor Alpha (PILRA) is a cell surface inhibitory receptor that recognizes specific O-glycosylated proteins and is expressed on various innate immune cell types including microglia. We show here that a common missense variant (G78R, rs1859788) of PILRA is the likely causal allele for the confirmed Alzheimers disease risk locus at 7q21 (rs1476679). The G78R variant alters the interaction of residues essential for sialic acid engagement, resulting in >50% reduced binding for several PILRA ligands including a novel ligand, complement component 4A, and herpes simplex virus 1 (HSV-1) glycoprotein B. PILRA is an entry receptor for HSV-1 via glycoprotein B, and macrophages derived from R78 homozygous donors showed significantly decreased levels of HSV-1 infection at several multiplicities of infection compared to homozygous G78 macrophages. We propose that PILRA G78R protects individuals from Alzheimers disease risk via reduced inhibitory signaling in microglia and reduced microglial infection during HSV-1 recurrence.
- organism: human
- assay: proteomics
- research focus: variant effect prediction
- research focus: cell-cell communication
- research focus: differential expression
- approach: statistical model
- approach: experimental assay
- Citations
- 96
- FWCI
- 6.51
- Field percentile
- top 2%
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- Ramp sequence may explain synonymous variant association with Alzheimer's disease in the Paired Immunoglobulin-like Type 2 Receptor Alpha (PILRA)
Justin B. Miller, J. Anthony Brandon, … Perry G. Ridge·BiomedicinesPeer-reviewed·Mar 18, 2025
- The Alzheimer's disease-associated protective Plcγ2-P522R variant promotes beneficial microglial functions
Mari Takalo, Rebekka Wittrahm, … Christian Haass·bioRxiv·Apr 8, 2020
- Genetic Variants of Phospholipase C-γ 2 Confer Altered Microglial Phenotypes and Differential Risk for Alzheimers Disease
Andy Po‐Yi Tsai, Chuanpeng Dong, … Gary E. Landreth·ImmunityPeer-reviewed·Sep 1, 2023
- PLCG2 as a Risk Factor for Alzheimer's Disease
Andy Po‐Yi Tsai, Chuanpeng Dong, … Kwangsik T. Nho·bioRxiv·May 19, 2020
- TREM2 R47H exacerbates immune response in Alzheimer's disease brain
Olena Korvatska, Kostantin Kiianitsa, … Wendy H. Raskind·bioRxiv·Aug 4, 2020
- Uncoupling of synaptic loss from amyloid burden by an Alzheimer's disease protective variant of PLCγ2.
Ryan J. Bevan, Emily Maguire, … Philip R. Taylor·bioRxiv·Sep 22, 2023