Powered by OpenAIRE graph
Found an issue? Give us feedback
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Archivio istituziona...arrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
versions View all 3 versions
addClaim

Whole exome sequencing of schizophrenia patients with high level of autozygosity.

Authors: MAGRI, Chiara; GIACOPUZZI, Edoardo; VALSECCHI, Paolo; TRAVERSA, Michele; GARDELLA, Rita; BORSANI, Giuseppe; BARLATI, Sergio; +2 Authors

Whole exome sequencing of schizophrenia patients with high level of autozygosity.

Abstract

Despite an estimated heritability up to 80% the genetic architecture of schizophrenia (SZ) remains unclear. Only about 32% of the genetic variability of schizophrenia has been attributed to common susceptibility alleles, this implying that other genetic factors are involved, as demonstrated by the identification of rare copy number variants (CNV) in some patients. At present, no exhaustive data on the contribution of rare recessive variants have been reported. Recessive variants are expected to have a major impact on inbreed subjects. Therefore, by autozygosity mapping we selected from a cohort of 180 patients those with high levels of autozygosity and submitted these 7 patients to whole exome sequencing (WES) analysis. Prioritization of the identified variants evidenced in the autozygous regions of these patients some variants representing good candidate mutations in SZ, since predicted as damaging and/or mapping in genes expressed in brain or previously associated to SZ. Our results, therefore, suggest that recessive variants might be involved in SZ , at least in those patients with high levels of autozygosity.

Country
Italy
Related Organizations
Keywords

Schizophrenia, recessive mutations, exome sequencing

  • BIP!
    Impact byBIP!
    selected citations
    These citations are derived from selected sources.
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    0
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Average
Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
Upload OA version
Are you the author of this publication? Upload your Open Access version to Zenodo!
It’s fast and easy, just two clicks!