Genetics of scleroderma: implications for personalized medicine?

被引：36

作者：

Assassi, Shervin ^{[1
]}

Radstake, Timothy R. D. J. ^{[2
]}

Mayes, Maureen D. ^{[1
]}

Martin, Javier ^{[3
]}

机构：

[1] Univ Texas Hlth Sci Ctr Houston, Div Rheumatol & Clin Immunogenet, Houston, TX 77030 USA

[2] Univ Med Ctr Utrecht, Dept Rheumatol & Clin Immunol, NL-3584 CX Utrecht, Netherlands

[3] IPBLN CSIC, Inst Parasitol & Biomed Lopez Neyra, Granada 18100, Spain

来源：

BMC MEDICINE | 2013年 / 11卷

关键词：

systemic sclerosis; scleroderma; genetic; biomarker; severity; GENOME-WIDE ASSOCIATION; INTERSTITIAL LUNG-DISEASE; SYSTEMIC-SCLEROSIS; PROMOTER REGION; FUNCTIONAL POLYMORPHISM; RISK-FACTORS; SUSCEPTIBILITY; HYPERTENSION; RITUXIMAB; JAPANESE;

D O I：

10.1186/1741-7015-11-9

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

Significant advances have been made in understanding the genetic basis of systemic sclerosis (scleroderma) in recent years. Can these discoveries lead to individualized monitoring and treatment? Besides robustly replicated genetic susceptibility loci, several genes have been recently linked to various systemic sclerosis disease manifestations. Furthermore, inclusion of genetic studies in design and analysis of drug trials could lead to development of genetic biomarkers that predict treatment response. Future genetic studies in well-characterized systemic sclerosis cohorts paired with advanced analytic approaches can lead to development of genetic biomarkers for targeted diagnostic and therapeutic interventions in systemic sclerosis.

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