Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis
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- 作者：Angel C. Y. Mak ; Paul L. F. Tang ; Clare Cleveland ; Melanie H. Smith ; M. Kari Connolly ; Tamiko R. Katsumoto ; Paul J. Wolters ; Pui-Yan Kwok and Lindsey A. Criswell
- 刊名：Arthritis & Rheumatism
- 出版年：2016
- 出版时间：September 2016
- 年：2016
- 卷：68
- 期：9
- 页码：2257-2262
- 全文大小：238K
- ISSN：1529-0131
文摘
Scleroderma is a genetically complex autoimmune disease with substantial phenotypic heterogeneity. Previous genome-wide association studies have identified common genetic variants associated with disease risk, but these studies are not designed to capture rare or potential causal variants. Our goal was to identify rare as well as common genetic variants in patients with diffuse cutaneous systemic sclerosis (dcSSc) through whole-exome sequencing (WES) in order to identify potential causal variants.