Immunogenetics in systemic lupus erythematosus: Transitioning from genetic associations to cellular effects

被引：13

作者：

Hagberg, Niklas

Lundtoft, Christian

Ronnblom, Lars

机构：

[1] Uppsala Univ, Dept Med Sci, Rheumatol, Uppsala, Sweden

[2] Uppsala Univ, Dept Med Sci, Sci Life Labs, Uppsala, Sweden

来源：

SCANDINAVIAN JOURNAL OF IMMUNOLOGY | 2020年 / 92卷 / 04期

基金：

瑞典研究理事会;

关键词：

genetics; genome-wide association study; systemic lupus erythematosus; INTERFERON REGULATORY FACTOR; PLASMACYTOID DENDRITIC CELLS; ALPHA ACTIVITY; FUNCTIONAL VARIANTS; IMMUNE-COMPLEXES; RISK HAPLOTYPE; I INTERFERON; BLOOD-CELLS; IFN-ALPHA; EXPRESSION;

D O I：

10.1111/sji.12894

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Systemic lupus erythematosus (SLE) is a heterogeneous rheumatic autoimmune disease. Genetic studies have identified up to 100 SLE risk loci. Many of these encode proteins of importance in the immune system, but the cellular and molecular mechanisms underlying these associations are still elusive. In this review, we will highlight some of the SLE risk loci where mechanistic insights have been achieved recently by linking genetic risk polymorphisms to cellular or molecular phenotypes important for the disease process.

引用

页数：11

共 50 条

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X K Howard
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N Dominguez
W Klein
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I T Harley
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G R Bruner
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K L Moser
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E K Wakeland
Q-Z Li
C D Langefeld
M C Marion
J Divers
G S Alarcón
E E Brown
R P Kimberly
J C Edberg
R Ramsey-Goldman
J D Reveille
G McGwin
L M Vilá
M A Petri
S-C Bae
S-K Cho
S-Y Bang
I Kim
C B Choi
J Martin
T J Vyse
J T Merrill
J B Harley
M E Alarcón-Riquelme
S K Nath
J A James
J M Guthridge
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