The GEN-SCRIP Study (GENetics of SChizophRenia in Pakistan)
GEN-SCRIP 研究(巴基斯坦精神分裂症的遗传学)
基本信息
- 批准号:10610027
- 负责人:
- 金额:$ 61.68万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2022
- 资助国家:美国
- 起止时间:2022-04-18 至 2024-04-30
- 项目状态:已结题
- 来源:
- 关键词:
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.
精神分裂症影响着大约1%的世界人口。我们目前还不了解生物
精神分裂症的基础足够好,足以设计有效的治疗策略。双胞胎和收养研究
支持遗传病因学。越来越明显的是,它的遗产被分成了稀有和
数百种基因中的常见变异,每一种都有很小的影响。澄清所需的样本量
精神分裂症的遗传病因可以通过大规模的合作努力来实现,这些合作努力包括
目前正在进行中。精神病学基因组学联盟在2014年发表的一项研究确定了108个基因组-
在具有欧洲血统的样本中,与该疾病相关的广泛显着基因座。虽然这是一场
精神分裂症遗传学上的重要里程碑这些基因座只能解释一小部分遗传
差异。
需要将这种方法的规模扩大到其他人口群体,以发现更多
与精神分裂症相关的基因变异。我们建议查明并收集10,000个案例和10,000个
来自巴基斯坦的控制。我们已经查明并收集了2000例病例和1000例对照。我们有
在12个中心组成了一个由巴基斯坦精神病学家组成的联盟。这些样本将在斯坦利进行基因分型。
Illumina全球筛查阵列(GSA)的精神病学研究中心,它将包含以下主干
约660,000个SNPs,为南方87%以上的地区提供Ld覆盖率和0.8%的归因准确率
亚洲基因组。巴基斯坦有浓厚的血缘婚姻传统,这是有优势的
用于遗传学研究,尤指隐性遗传特征的研究。我们将分析这些数据中常见的SNP,
单倍型和拷贝数变异(CNV)。在关联分析中,我们将检查隐性
遗传,除了疾病的常见变异的相加模型。我们将进行纯合子
作图以识别病例中因纯合性(ROH)而丰富的区域,与
控制。这一群体将具有不同的连锁不平衡结构,这将有助于缩小
包含高加索人108个基因座上潜在致病变异的基因组区间
全基因组关联研究。我们将通过
精神病学基因组学联盟和DBGaP。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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JAMES A KNOWLES其他文献
JAMES A KNOWLES的其他文献
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{{ truncateString('JAMES A KNOWLES', 18)}}的其他基金
The GEN-BLIP Study (GENetics of BipoLar Disorder In Pakistan)
GEN-BLIP 研究(巴基斯坦双相情感障碍的遗传学)
- 批准号:
10700891 - 财政年份:2020
- 资助金额:
$ 61.68万 - 项目类别:
The GEN-BLIP Study (GENetics of BipoLar Disorder In Pakistan)
GEN-BLIP 研究(巴基斯坦双相情感障碍的遗传学)
- 批准号:
10426108 - 财政年份:2020
- 资助金额:
$ 61.68万 - 项目类别:
The GEN-BLIP Study (GENetics of BipoLar Disorder In Pakistan)
GEN-BLIP 研究(巴基斯坦双相情感障碍的遗传学)
- 批准号:
10034810 - 财政年份:2020
- 资助金额:
$ 61.68万 - 项目类别:
The GEN-BLIP Study (GENetics of BipoLar Disorder In Pakistan)
GEN-BLIP 研究(巴基斯坦双相情感障碍的遗传学)
- 批准号:
10212214 - 财政年份:2020
- 资助金额:
$ 61.68万 - 项目类别:
The GEN-SCRIP Study (GENetics of SChizophRenia in Pakistan)
GEN-SCRIP 研究(巴基斯坦精神分裂症的遗传学)
- 批准号:
9291116 - 财政年份:2017
- 资助金额:
$ 61.68万 - 项目类别:
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)
- 批准号:
9921488 - 财政年份:2017
- 资助金额:
$ 61.68万 - 项目类别:
The GEN-SCRIP Study (GENetics of SChizophRenia in Pakistan)
GEN-SCRIP 研究(巴基斯坦精神分裂症的遗传学)
- 批准号:
10161831 - 财政年份:2017
- 资助金额:
$ 61.68万 - 项目类别:
Addition of OCD to the Genomic Psychiatry Cohort
将强迫症添加到基因组精神病学队列中
- 批准号:
8675128 - 财政年份:2014
- 资助金额:
$ 61.68万 - 项目类别:
Addition of OCD to the Genomic Psychiatry Cohort
将强迫症添加到基因组精神病学队列中
- 批准号:
9228400 - 财政年份:2014
- 资助金额:
$ 61.68万 - 项目类别:
Addition of OCD to the Genomic Psychiatry Cohort
将强迫症添加到基因组精神病学队列中
- 批准号:
8813631 - 财政年份:2014
- 资助金额:
$ 61.68万 - 项目类别:
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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的遗传学)
- 批准号:
9291116 - 财政年份:2017
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GEN-SCRIP 研究(巴基斯坦精神分裂症遗传学)
- 批准号:
9921488 - 财政年份:2017
- 资助金额:
$ 61.68万 - 项目类别:
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GEN-SCRIP 研究(巴基斯坦精神分裂症的遗传学)
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