# Familial lupus associated with a P2RY8 variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus

## TL;DR

A P2RY8 gene variant is linked to lupus in a father and son, showing how genetic mutations can bridge rare and common forms of the disease.

## Contribution

The study identifies a novel P2RY8 variant associated with familial lupus and type I interferon signaling.

## Key findings

- A P2RY8 E323G substitution was found in a father and son with cutaneous lupus.
- The variant is linked to enhanced type I interferon signaling.
- The findings suggest a connection between monogenic disease and complex lupus susceptibility.

## Abstract

Identification of a heterozygous P2RY8 E323G substitution in a father and son with cutaneous lupus and enhanced type I interferon signaling supports a role for P2RY8 in lupus causation and highlights the overlap between Mendelian disease and complex genetic susceptibility.

Identification of a heterozygous P2RY8 E323G substitution in a father and son with cutaneous lupus and enhanced type I interferon signaling supports a role for P2RY8 in lupus pathogenesis and highlights the overlap between Mendelian disease and complex susceptibility.