期刊
NATURE GENETICS
卷 40, 期 7, 页码 880-885出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.162
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资金
- NCI NIH HHS [P30 CA68485] Funding Source: Medline
- NEI NIH HHS [P30 EY08126] Funding Source: Medline
- NIMH NIH HHS [MH077235, MH061399] Funding Source: Medline
Schizophrenia is an etiologically heterogeneous psychiatric disease, which exists in familial and nonfamilial (sporadic) forms(1). Here, we examine the possibility that rare de novo copy number (CN) mutations with relatively high penetrance contribute to the genetic component of schizophrenia. We carried out a whole-genome scan and implemented a number of steps for finding and confirming CN mutations. Confirmed de novo mutations were significantly associated with schizophrenia (P = 0.00078) and were collectively similar to 8 times more frequent in sporadic (but not familial) cases with schizophrenia than in unaffected controls. In comparison, rare inherited CN mutations were only modestly enriched in sporadic cases. Our results suggest that rare de novo germline mutations contribute to schizophrenia vulnerability in sporadic cases and that rare genetic lesions at many different loci can account, at least in part, for the genetic heterogeneity of this disease.
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