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Associations of Multiple NOTCH4 Exonic Variants with Systemic Sclerosis 期刊论文

编号：

89e2ecf3-fb1f-420b-bf87-65ac94473bc8
作者：

Zhou, Xiaodong^[1] Li, Hongye^[9] Guo, Shicheng^[2] Wang, Jiucun^[3,4,5] Shi, Chunhua^[6] Espitia, Maribel^[1] Guo, Xinjian^[1] Wang, Qingwen^[7] Liu, Mengyuan^[8] Assassi, Shervin^[1] Reveille, John D.^[1] Mayes, Maureen D.^[1]
语种：

英文
期刊：

JOURNAL OF RHEUMATOLOGY ISSN：0315-162X 2019 年 46 卷 2 期 (184 - 189) ; FEB 1
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关键词：

SYSTEMIC SCLEROSIS NOTCH4 GENE EXONIC VARIANTS
摘要：

Objective. Findings from previous genome-wide association studies indicated an association of the NOTCH4 gene with systemic sclerosis (SSc). This is a followup study to fine-map exonic variants of NOTCH4 in SSc.
Methods. All exons of NOTCH4 were sequenced and analyzed in a total of 1006 patients with SSc and 1004 controls of US white ancestry with the Ion Torrent system. Identified SSc-associated variants were confirmed with Sanger sequencing, and then examined in a Chinese Han cohort consisting of 576 patients with SSc and 574 controls. The NOTCH4 variants were analyzed for association with SSc as a whole and with SSc clinical and autoantibody subtypes with and without the influence of specific HLA-class II alleles that had been previously identified as major genetic factors in SSc.
Results. A total of 12 SSc-associated and SSc subtype-associated exonic variants of NOTCH4 were identified in the US cohort. Three of them are nonsynonymous single-nucleotide polymorphisms and 1 is a CTG tandem repeat that encodes for a poly-leucine, all of which are located in the NOTCH4 extracellular domain (NECD). Conditional logistic regression analysis on SSc-associated HLA-class II alleles indicated an independent association of the NOTCH4 variants with SSc autoantibody subtypes. Analysis of the Chinese cohort supported a genetic contribution of NOTCH4 to SSc and its subtypes.
Conclusion. Multiple NOTCH4 exonic variants were associated with SSc and/or SSc subtypes. Several of these variants encode nonsynonymous sequence changes occurring in the NECD, which implicates a potentially functional effect of NOTCH4.
推荐引用方式
GB/T 7714：

Zhou Xiaodong,Li Hongye,Guo Shicheng, et al. Associations of Multiple NOTCH4 Exonic Variants with Systemic Sclerosis [J].JOURNAL OF RHEUMATOLOGY,2019,46(2):184-189.
APA：

Zhou Xiaodong,Li Hongye,Guo Shicheng,Wang Jiucun,&Mayes Maureen D..(2019).Associations of Multiple NOTCH4 Exonic Variants with Systemic Sclerosis .JOURNAL OF RHEUMATOLOGY,46(2):184-189.
MLA：

Zhou Xiaodong, et al. "Associations of Multiple NOTCH4 Exonic Variants with Systemic Sclerosis" .JOURNAL OF RHEUMATOLOGY 46,2(2019):184-189.

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