CNR2 functional variant (Q63R) influences childhood immune thrombocytopenic purpura.

Abstract

Immune thrombocytopenic purpura is an acquired autoimmune disorder that is the most common cause of thrombocytopenia in children. The endocannabinoid system is involved in immune regulation. We evaluated a common missense variant (CAA/CGG; Q63R) of the gene encoding the cannabinoid receptor type 2 (GeneID 1269) in 190 children with immune thrombocytopenic purpura and 600 healthy controls. The allelic frequencies and genotype distribution of the polymorphism in the patients were significant compared to control samples (P=0.006 and P=0.0001, respectively). Interestingly, when acute and chronic immune thrombocytopenic purpura patients were analyzed separately with respect to controls, a significant overrepresentation of the RR genotype and of the R allele was observed only for the chronic form (P=0.00021 and P=0.011, respectively). The relative odds ratio suggested the risk of developing chronic form was more than double in immune thrombocytopenic purpura children homozygous for the variant (odds ratio=2.349, 95% CI: 1.544-3.573; P<0.001).

• Authors: Francesca Rossi, Silvia Mancusi, Giulia Bellini, Domenico Roberti, Francesca Punzo, Simona Vetrella, Sofia Maria Rosaria Matarese, Bruno Nobili, Sabatino Maione, Silverio Perrotta
• Journal: Haematologica (Haematologica) Vol. 96 Issue 12 Pg. 1883-5 (Dec 2011) ISSN: 1592-8721 [Electronic] Italy
• PMID: 21828121 (Publication Type: Clinical Trial, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Receptor, Cannabinoid, CB2

Topics

• Acute Disease
• Adolescent
• Alleles
• Child
• Child, Preschool
• Chronic Disease
• Female
• Gene Frequency
• Genotype
• Humans
• Infant
• Mutation, Missense
• Purpura, Thrombocytopenic, Idiopathic (genetics)
• Receptor, Cannabinoid, CB2 (genetics)