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Solving the genetic puzzle of systemic lupus erythematosus

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Abstract

In recent years, genome-wide association studies on systemic lupus erythematosus (SLE) have significantly improved our understanding of the genetic architecture of this prototypic autoimmune disease. However, there is still a long way to go before we can fully understand the genetic factors for this very heterogeneous disease and the interplays between environmental factors and genetic predisposition that lead to the pathogenesis of SLE. Here we summarize the recent advances in our understanding of the genetics of SLE and discuss the future directions towards fully elucidating the mechanisms of this disease.

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Abbreviations

AFF1:

AF4/FMR2 family member 1

ARID5B:

AT rich interactive domain 5B (MRF1-like)

ATG5:

Autophagy related 5

BANK1:

B-cell scaffold protein with ankyrin repeats

BLK:

B lymphoid tyrosine kinase

C1QB:

Complement component 1 q subcomponent, B chain

C2:

Complement component 2

C4:

Complement component 4

C6orf10:

Chromosome 6 open reading frame 10

CDKN1B:

Cyclin-dependent kinase inhibitor 1B (p27 Kip1)

CLEC16A:

C-type lectin domain family 16 member A

CREBL1 (ATF6B):

Activating transcription factor 6 beta

DNASE1:

Deoxyribonuclease I

DNASE1L3:

Deoxyribonuclease I-like 3

DQB2:

Major histocompatibility complex, class II, DQ beta 2

DRAM1:

DNA-damage regulated autophagy modulator 1

DRB1:

Major histocompatibility complex, class II, DR beta 1

ELF1:

E74-like factor 1 (ets-domain transcription factor)

ETS1:

v-ets avian erythroblastosis virus E26 oncogene homolog 1

FCGR2A:

Fc fragment of IgG low-affinity IIa, receptor (CD32)

IFIH1:

Interferon induced with helicase C domain 1

IKZF1:

IKAROS family zinc finger 1 (Ikaros)

IL:

Interleukin

IRAK1:

Interleukin-1 receptor-associated kinase 1

IRF:

interferon regulatory factor

ITGAM:

Integrin alpha M (complement component 3 receptor 3 subunit)

JAZF1:

JAZF zinc finger 1

MECP2:

Methyl CpG binding protein 2

MICB:

MHC class I polypeptide-related sequence B

MSH5:

MutS homolog 5

NF-κB:

Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1

OR2H2:

Olfactory receptor family 2, subfamily H, member 2

PPP2CA:

Protein phosphatase 2 catalytic subunit, alpha isozyme

PRDM1:

PR domain containing 1 with ZNF domain

PRKCD:

Protein kinase C delta

PTPN22:

Protein tyrosine phosphatase non-receptor type 22 (lymphoid)

PXK:

PX domain containing serine/threonine kinase

RASGRP3:

RAS guanyl releasing protein 3 (calcium and DAG-regulated)

RDBP (NELFE):

Negative elongation factor complex member E

SLC15A4:

Solute carrier family 15 (oligopeptide transporter) member 4

SPI1:

Spleen focus forming virus (SFFV) proviral integration oncogene

STAT4:

Signal transducer and activator of transcription 4

TET3:

Tet methylcytosine dioxygenase 3

TLR7:

Toll-like receptor 7

TLR9:

Toll-like receptor 9

TMEM39A:

Transmembrane protein 39A

TNFAIP3:

Tumor necrosis factor alpha-induced protein 3

TNFSF4:

Tumor necrosis factor (ligand) superfamily member 4

TNIP1:

TNFAIP3 interacting protein 1

TREX1:

Three prime repair exonuclease 1

TYK2:

Tyrosine kinase 2

UHRF1BP1:

UHRF1 binding protein 1

WDFY4:

WDFY family member 4

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Acknowledgments

WY and YLL are supported by Hong Kong RGC grants (GRF 17125114, HKU783813M, HKU781709M, HKU 784611 M, and HKU 770411 M) and S K Yee Medical Foundation general award. Our study on SLE genetics was partially supported by the generous donation from Shun Tak District Min Yuen Tong of Hong Kong.

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  1. Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, 21 Sassoon Road, Pokfulam, Hong Kong

    Wanling Yang & Yu Lung Lau

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Yang, W., Lau, Y.L. Solving the genetic puzzle of systemic lupus erythematosus. Pediatr Nephrol 30, 1735–1748 (2015). https://doi.org/10.1007/s00467-014-2947-8

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  • DOI: https://doi.org/10.1007/s00467-014-2947-8

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