Polygenic risk scores distinguish patients from non‐affected adult relatives and from normal controls in schizophrenia and bipolar disorder multi‐affected kindreds

Polygenic risk scores distinguish patients from non‐affected adult relatives and from normal... INTRODUCTIONSchizophrenia (SZ) and bipolar disorder (BD) are complex hereditary diseases which have been the object of many genome wide association studies. These studies led to the creation of polygenic risk scores (PRS) comprising thousands of single nucleotide polymorphisms (SNPs) used to distinguish affected from unaffected subjects (controls). The Schizophrenia Working Group of the Psychiatric Genomics Consortium (PGC) (Schizophrenia Working Group of the Psychiatric Genomics, ) and Hou et al. () are presently the biggest genome‐wide association studies for SZ and BD, respectively. Many studies use the PGC results as reference to define PRS for SZ and BD, although for BD the study of Hou et al. is now an alternative.Very few studies of PRS have been carried out in samples of multigenerational SZ and BD families. In those family studies, the non‐affected adult relatives (NAARs) form an informative comparison group along with population controls. Using only a BD PRS, Fullerton et al. () compared BD affected subjects and their NAARs, but only 32 SNPs were used in the PRS, the number of subjects per family was relatively small and the subjects had diverse ethnic backgrounds. Another study tried to identify brain regions whose function may be related to BD http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Wiley

Polygenic risk scores distinguish patients from non‐affected adult relatives and from normal controls in schizophrenia and bipolar disorder multi‐affected kindreds

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
© 2018 Wiley Periodicals, Inc.
ISSN
1552-4841
eISSN
1552-485X
D.O.I.
10.1002/ajmg.b.32614
Publisher site
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Abstract

INTRODUCTIONSchizophrenia (SZ) and bipolar disorder (BD) are complex hereditary diseases which have been the object of many genome wide association studies. These studies led to the creation of polygenic risk scores (PRS) comprising thousands of single nucleotide polymorphisms (SNPs) used to distinguish affected from unaffected subjects (controls). The Schizophrenia Working Group of the Psychiatric Genomics Consortium (PGC) (Schizophrenia Working Group of the Psychiatric Genomics, ) and Hou et al. () are presently the biggest genome‐wide association studies for SZ and BD, respectively. Many studies use the PGC results as reference to define PRS for SZ and BD, although for BD the study of Hou et al. is now an alternative.Very few studies of PRS have been carried out in samples of multigenerational SZ and BD families. In those family studies, the non‐affected adult relatives (NAARs) form an informative comparison group along with population controls. Using only a BD PRS, Fullerton et al. () compared BD affected subjects and their NAARs, but only 32 SNPs were used in the PRS, the number of subjects per family was relatively small and the subjects had diverse ethnic backgrounds. Another study tried to identify brain regions whose function may be related to BD

Journal

American Journal of Medical GeneticsWiley

Published: Jan 1, 2018

Keywords: ; ;

References

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