Background: Rare copy number variations (CNVs) were involved in the etiology of neuropsychiatric disorders, and some of them appeared to be shared risk factors for several different diseases. One of those promising loci is the CNV at 15q11.2, including 4 genes, TUBGCP5, CYFIP1, NIPA2, and NIPA1. Several studies showed that microdeletions at this locus were significant associated with schizophrenia. In the current study, we investigated the role of both rare CNVs and common single nucleotide polymorphisms (SNPs) at 15q11.2 in schizophrenia in the Chinese Han population.Methods:We screened deletions at 15q11.2 in 2058 schizophrenia patients and 3275 normal controls in Chinese Han population by Affymetrix 500K/6.0 SNP arrays and SYBR green real-time polymerase chain reaction and then validated deletions by multiplex ligation-dependent probe amplification and Taqman real-time assays. We successfully genotyped 27 tag SNPs in total and tested associations in 1144 schizophrenia cases and 1144 normal controls.Results:We found a triple increase of deletions in cases over controls, with OR = 4.45 (95% CI = 1.36-14.60) and P =. 014. In the analysis of common SNPs, we found that the most significant SNP in schizophrenia was rs4778334 (OR =. 72, 95% CI = 0.60-0.87, allelic P =. 0056 after permutation, genotypic P =. 015 after permutation). We also found SNP rs1009153 in CYFIP1 was associated with schizophrenia (OR = 0.82, 95% CI = 0.73-0.93, allelic P =. 044 after permutation).Conclusion:We found that both rare deletions and common variants at 15q11.2 were associated with schizophrenia in the Chinese Han population.
- copy number variation (CNV)
- tag SNP