Objectives: Colony stimulating factor 2 receptor β (CSF2RB) encodes the protein which is the common β chain of the high affinity receptor for IL-3, IL-5 and CSF. It locates in the linkage region 22q12.3 of both bipolar disorder and schizophrenia, and is expressed in most cells.
Methods: We carried out a large scale case-control study to test the association between CSF2RB and three major mental disorders in the Chinese Han population. Seven single nucleotide polymorphisms were genotyped in 1140 bipolar affective disorder patients (including 645 type I bipolar affective disorder patients), 1140 schizophrenia patients, 1139 major depressive disorder patients and 1140 healthy controls.
Results: Three SNPs were found to be associated with both schizophrenia and major depressive disorder. Haplotype association analysis revealed one protective haplotype (P value = 0.014 for SCZ and 0.0004 for MDD) and one risk haplotype (P value = 0.006 for SCZ and 0.001 for MDD). Additional 52 SNPs were analyzed for population stratification, which demonstrated that our positive results were not caused by population stratification.
Conclusions: Our results support CSF2RB as a risk factor common to both schizophrenia and major depression in the Chinese Han population.