An update on the genetics of systemic lupus erythematosus

被引：19

作者：

Oparina, Nina ^{[1
]}

Martinez-Bueno, Manuel ^{[2
]}

Alarcon-Riquelme, Marta E. ^{[1
,2
]}

机构：

[1] Karolinska Inst, Inst Environm Med IMM, Unit Chron Inflammatory Dis, Solna, Sweden

[2] Univ Granada, Ctr Genom & Oncol Res Pfizer, GENYO, Andalusian Reg Govt, Parque Tecnol Salud, Granada, Spain

来源：

CURRENT OPINION IN RHEUMATOLOGY | 2019年 / 31卷 / 06期

关键词：

autoimmunity; exome sequencing; genome-wide association study; low-frequency variation; rare variation; systemic lupus erythematosus; GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; FAMILIAL AGGREGATION; AUTOIMMUNE-DISEASES; RISK-FACTORS; IRF5; GENE; CHINESE; SLE; EXPRESSION; VARIANTS;

D O I：

10.1097/BOR.0000000000000654

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Purpose of review The aim of this study is to update on the most recent findings on the genetics of systemic lupus erythematosus. Recent findings Our overview focuses particularly on results from expression quantitative trait loci, exome sequencing, and rare variants and their impact on disease. Summary Systemic lupus erythematosus is a systemic autoimmune disease for which a significant number of susceptibility genes have been identified. Several genome-wide association studies were recently published in different populations that provide a better picture of the molecular mechanisms. It is becoming clear that the genetic architecture of lupus is quite well established but more information is required on the role of rare variants.

引用

页码：659 / 668

页数：10

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