LDtrait: An Online Tool for Identifying Published Phenotype Associations in Linkage Disequilibrium

被引：136

作者：

Lin, Shu-Hong ^{[1
]}

Brown, Derek W. ^{[1
]}

Machiela, Mitchell J. ^{[1
]}

机构：

[1] NCI, Integrat Tumor Epidemiol Branch, Div Canc Epidemiol & Genet, Rockville, MD USA

来源：

CANCER RESEARCH | 2020年 / 80卷 / 16期

关键词：

GENOME-WIDE ASSOCIATION; COLORECTAL-CANCER; CHROMOSOME Y; LOCI; SUSCEPTIBILITY; MULTIPLE; METAANALYSIS; TRAITS; COUNTS;

D O I：

10.1158/0008-5472.CAN-20-0985

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Genome-wide association studies (GWAS) have identified thousands of germline susceptibility loci associated with risk for cancer as well as a wide range of other traits and diseases. An interest of many investigators is identifying traits or diseases that share common susceptibility loci. We developed LDtrait (https://ldlink.nci.nih.gov/?tab=ldtrait) as an open access web tool for finding germline variation associated with multiple traits. LDtrait searches the NHGRI-EBI GWAS Catalog to identify susceptibility loci in linkage disequilibrium (LD) with a user-provided list of query variants. Options allow for modifying LD thresholds, calculating LD from a diverse set of reference populations, and downloading annotated variant lists. Results from example query searches highlight the utility of LDtrait in uncovering cross-trait associations for cancer risk and other traits. LDtrait accelerates etiologic understanding of cancer genetics by rapidly identifying genetic similarities with other traits or diseases. Significance: The new GWAS search tool LDtrait will expedite discovery of shared genetic components underlying seemingly unrelated diseases and may offer novel insights into cancer research.

引用

页码：3443 / 3446

页数：4

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