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The GEN-SCRIP Study (GENetics of SChizophRenia in Pakistan)

GEN-SCRIP 研究（巴基斯坦精神分裂症遗传学）

基本信息

批准号：
9921488
负责人：
JAMES A KNOWLES
金额：
$ 60.41万
依托单位：
SUNY DOWNSTATE MEDICAL CENTER
依托单位国家：
美国
项目类别：
财政年份：
2017
资助国家：
美国
起止时间：
2017-07-15 至 2022-04-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9921488
关键词：
Adoption Affect Award Biological Caucasians Cells Characteristics Collection Communities Consanguinity Consent Copy Number Polymorphism Costs and Benefits Custom DNA DSM-IV Data Deposition Direct Costs Disease Enrollment Ethnic Origin European Facilities and Administrative Costs Family Family Sizes Follow-Up Studies Funding Genes Genetic Genetic Predisposition to Disease Genetic Risk Genetic study Genome Genomics Genotype Goals Haplotypes Human Genetics Human Inbreeding Individual Inherited Institutes Intellectual functioning disability Intervention Investments Linkage Disequilibrium Mental disorders Modeling National Institute of Mental Health Pakistan Participant Patients Phenotype Population Population Group Proteins Psychiatrist Publishing Recording of previous events Research Risk Running SNP array Sample Size Sampling Schizophrenia Site South Asian Structure Target Populations Testing Transcript Twin Multiple Birth Universities Variant Vertebral column base case control causal variant cohort cost cost effective data sharing database of Genotypes and Phenotypes design effective therapy family genetics genetic variant genome wide association study genome-wide genomic locus neural circuit phenotypic data population stratification psychiatric genomics psychogenetics repository sample collection screening trait treatment strategy working group

项目摘要

Schizophrenia affects about 1 percent of the world population. We do not currently understand the biological underpinnings of schizophrenia well enough to design effective treatment strategies. Twin and adoption studies supported a genetic etiology. It is becoming clear that its inheritance is partitioned between the rare and common variants in hundreds of genes, each one having a small effect. The sample size required to elucidate the genetic etiology of schizophrenia can be achieved through large scale collaborative efforts, which are currently ongoing. A study published by Psychiatric Genomics Consortium in 2014 identified 108 Genome- Wide significant loci associated for the disorder in samples with European ancestry. Although it was an important milestone in schizophrenia genetics these loci only explain a small proportion of the genetic variance. Expansion of this approach in size, and to other population groups, is required to discovery of additional genetic variants associated with schizophrenia. We propose to ascertain and collect 10,000 cases and 10,000 controls from Pakistan. We have already ascertained and collected 2,000 cases and 1,000 controls. We have formed a consortium of Pakistani psychiatrists at 12 centers. These samples will be genotyped at Stanley Center for Psychiatric Research with Illumina Global Screening Array (GSA), which will contain a backbone of ~660,000 SNPs, which provides LD coverage and imputation accuracy of >0.8, for over 87% of the South Asian genome. There is a strong tradition of consanguineous marriages in Pakistan which has an advantage for genetic studies, especially of recessively inherited traits. We will analyze these data for common SNPs, haplotypes, and copy number variations (CNVs). In association analysis we will examine for recessive inheritance, in addition to additive models of common variants to disease. We will perform a homozygosity mapping to identify regions that are enriched for Runs of Homozygosity (ROH) in cases, as compared to controls. This population will have a different linkage disequilibrium structure which will help to narrow down the genomic intervals containing the potential causative variants at the 108 loci identified in the Caucasian Genome Wide Association Study. We will share these data with broader scientific community via the Psychiatric Genomics Consortium and dbGaP.

精神分裂症影响了大约1%的世界人口。我们目前还不了解生物学