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JOURNAL ARTICLE
META-ANALYSIS
RESEARCH SUPPORT, NON-U.S. GOV'T
Rare and common variants at 16p11.2 are associated with schizophrenia.
Schizophrenia Research 2017 June
Recent studies suggest that both common and rare variants are involved in the genetic risk of schizophrenia. Using a Cochran-Mantel-Haenszel (CMH) adjusted meta-analysis in 36,676 schizophrenia patients and 48,331 healthy controls from 24 independent samples, we identify the microduplications at 16p11.2 locus (29.6-30.2Mb, hg19) to be strongly associated with the illness (P value<2.2×10-16 , CHM-adjusted OR=10.79). The frequency of this microduplication is significantly higher in schizophrenia patients (0.267%) comparing to healthy controls (0.025%). Further, using the largest published genome-wide association study (GWAS) data (36,989 cases and 113,075 controls), we show that common variants at the 16p11.2 locus are also significantly associated with schizophrenia (e.g., rs12691307, P value=4.55×10-11 , OR=1.073). These results confirm the link between 16p11.2 genomic region and genetic risk of schizophrenia.
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