Defining the Contribution of Genetic Variants in MRGPRX4 With Pruritus in Paediatric Cholestasis: Evidence From Case-Control Study - PubMed
3 hours ago
- #cholestatic pruritus
- #MRGPRX4
- #pediatric liver disease
- Study investigates genetic variants in MRGPRX4 and their role in cholestatic pruritus in pediatric liver diseases.
- MRGPRX4 is a bile acid receptor expressed in human dorsal root ganglia, potentially mediating itch signaling.
- Case-control study included patients with Alagille syndrome, PFIC, biliary atresia, and PSC, comparing those with and without pruritus.
- All 36 participants had at least one coding-region SNV in MRGPRX4, with 11 unique variants identified.
- No single SNV was significantly associated with pruritus, but co-occurring variants Phe8Leu, Asn25Lys, and Tyr215Tyr were less frequent in pruritus cases.
- A rare Lys11Glu variant was found exclusively in patients without pruritus, suggesting a potential protective role.
- Functional significance of MRGPRX4 variants remains unclear, but some may alter receptor activity and modulate pruritus susceptibility.
- Larger studies are needed to confirm the clinical relevance of these genetic variants in cholestatic pruritus.