Convergent Genetic and Genomic Analyses of Schizophrenia
精神分裂症的融合遗传和基因组分析
基本信息
- 批准号:10307986
- 负责人:
- 金额:--
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2018
- 资助国家:美国
- 起止时间:2018-01-01 至 2021-12-31
- 项目状态:已结题
- 来源:
- 关键词:AdultAffectAgeAzoresBipolar DisorderBlood specimenCatalogsCodeCollectionComplexDataDiagnosticDimensionsDiseaseEtiologyFamilyFamily StudyGenesGeneticGenetic RiskGenetic studyGenomeGenomic DNAGenomicsGenotypeGeographyGoalsGrantHaplotypesHeritabilityHuman GenomeIndividualInterviewIslandLibrariesMeasuresMethodsMorbidity - disease rateMutationNoiseNuclear FamilyNucleotidesOutcomePatientsPhenotypePlayPopulationPortuguesePrecision Medicine InitiativeProcessPsychiatryPublic HealthQuality ControlRiskRisk FactorsRoleSamplingSchizophreniaSignal TransductionSingle Nucleotide PolymorphismStructureSystemUntranslated RNAVariantVeteransbasecase controlcohortdesigndisabilityexperimental studygene discoverygenetic risk factorgenetic variantgenome sequencinggenome wide association studygenome-wideindividual patientindividualized medicineinsertion/deletion mutationmemberneuropsychiatric disorderprecision medicinerare variantrisk variantschizophrenia riskwhole genome
项目摘要
Objective: To identify common and rare genetic variants that increase the risk of schizophrenia (SCZ), and to
study their impact on illness risk as well as measures of morbidity in large samples.
Background: Schizophrenia is a major cause of disability amongst US veterans as well as worldwide, with an
annual public health burden of more than $60 billion. Recent studies have strongly supported the impact of
both common and rare variants on illness risk. However, the known genetic risk factors for the illness still
comprise a small portion of the overall heritability, which is about 80%. These variants are more likely to occur
in non-coding than coding regions of the genome. For this and other reasons, whole-genome sequencing
(WGS) has become the method of choice to identify genetic risk variants for SCZ and other common, complex
disorders. Although prohibitively expensive only a few years ago, it is now feasible to carry out WGS in large
numbers affordably. In the last grant period, we successfully conducted WGS in 20 families segregating either
SCZ or bipolar disorder from the geographically isolated Portuguese Islands of the Azores and Madeira. We
have shown that rare variants segregating with illness in these families preferentially cluster in regions
previously implicated by GWAS. Genetic risk factors are likely to be easier to identify in more isolated
populations because of their greater homogeneity, and consequently fewer genetic inputs to disease.
Proposed Methods: We plan to enlarge our current sample of multiplex Azorean families segregating SCZ by
ascertaining and collecting new families in the Azores as well as following up previously studied families to
identify individuals who have entered the age of risk for SCZ. These families will undergo WGS using the
Illumina HiSeqX to identify common and rare single nucleotide variants and structural variants associated with
illness. These families will be sequenced alongside the Genomic Psychiatry Cohort (GPC), a large US
sample of SCZ and bipolar cases and controls (10,000 cases and 10,000 controls), and variant calling will be
done with this much larger sample to increase accuracy. Furthermore, we will be able to use the GPC as a
replication sample in a two-stage design, which we demonstrate has greater power than a one-stage design.
We will also examine genetic influences on phenotypes relevant to Precision Medicine, such as symptomatic
dimensions and outcome.
目的:识别增加精神分裂症(SCZ)风险的常见和罕见遗传变异,并对其进行研究
项目成果
期刊论文数量(0)
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AYMAN H FANOUS的其他文献
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{{ truncateString('AYMAN H FANOUS', 18)}}的其他基金
Convergent Genetic and Genomic Analyses of Schizophrenia
精神分裂症的融合遗传和基因组分析
- 批准号:
9856938 - 财政年份:2018
- 资助金额:
-- - 项目类别:
Convergent Genetic and Genomic Analyses of Bipolar Disorder
双相情感障碍的融合遗传和基因组分析
- 批准号:
8803754 - 财政年份:2012
- 资助金额:
-- - 项目类别:
Convergent Genetic and Genomic Analyses of Bipolar Disorder
双相情感障碍的融合遗传和基因组分析
- 批准号:
8536077 - 财政年份:2012
- 资助金额:
-- - 项目类别:
Convergent Genetic and Genomic Analyses of Bipolar Disorder
双相情感障碍的融合遗传和基因组分析
- 批准号:
8245545 - 财政年份:2012
- 资助金额:
-- - 项目类别:
Convergent Genetic and Genomic Analyses of Schizophrenia
精神分裂症的融合遗传和基因组分析
- 批准号:
8586867 - 财政年份:2011
- 资助金额:
-- - 项目类别:
Convergent Genetic and Genomic Analyses of Schizophrenia
精神分裂症的融合遗传和基因组分析
- 批准号:
8445147 - 财政年份:2011
- 资助金额:
-- - 项目类别:
Convergent Genetic and Genomic Analyses of Schizophrenia
精神分裂症的融合遗传和基因组分析
- 批准号:
7932700 - 财政年份:2011
- 资助金额:
-- - 项目类别:
Convergent Genetic and Genomic Analyses of Schizophrenia
精神分裂症的融合遗传和基因组分析
- 批准号:
8261840 - 财政年份:2011
- 资助金额:
-- - 项目类别:
An Association Study of Neurogenin 1 and Schizophrenia
Neurogenin 1 与精神分裂症的关联研究
- 批准号:
6459760 - 财政年份:2002
- 资助金额:
-- - 项目类别:
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