PMID- 35749015
OWN - NLM
STAT- MEDLINE
DCOM- 20230510
LR  - 20230510
IS  - 1559-0267 (Electronic)
IS  - 1080-0549 (Linking)
VI  - 64
IP  - 3
DP  - 2023 Jun
TI  - A Summary on the Genetics of Systemic Lupus Erythematosus, Rheumatoid Arthritis, 
      Systemic Sclerosis, and Sjogren's Syndrome.
PG  - 392-411
LID - 10.1007/s12016-022-08951-z [doi]
AB  - Systemic lupus erythematosus, systemic sclerosis, rheumatoid arthritis, and 
      Sjogren's syndrome are four major autoimmune rheumatic diseases characterized by 
      the presence of autoantibodies, caused by a dysregulation of the immune system 
      that leads to a wide variety of clinical manifestations. These conditions present 
      complex etiologies strongly influenced by multiple environmental and genetic 
      factors. The human leukocyte antigen (HLA) region was the first locus identified 
      to be associated and still represents the strongest susceptibility factor for 
      each of these conditions, particularly the HLA class II genes, including DQA1, 
      DQB1, and DRB1, but class I genes have also been associated. Over the last two 
      decades, the genetic component of these disorders has been extensively 
      investigated and hundreds of non-HLA risk genetic variants have been uncovered. 
      Furthermore, it is widely accepted that autoimmune rheumatic diseases share 
      molecular disease pathways, such as the interferon (IFN) type I pathways, which 
      are reflected in a common genetic background. Some examples of well-known 
      pleiotropic loci for autoimmune rheumatic diseases are the HLA region, DNASEL13, 
      TNIP1, and IRF5, among others. The identification of the causal molecular 
      mechanisms behind the genetic associations is still a challenge. However, recent 
      advances have been achieved through mouse models and functional studies of the 
      loci. Here, we provide an updated overview of the genetic architecture underlying 
      these four autoimmune rheumatic diseases, with a special focus on the HLA region.
CI  - (c) 2022. The Author(s), under exclusive licence to Springer Science+Business 
      Media, LLC, part of Springer Nature.
FAU - Ortiz-Fernandez, Lourdes
AU  - Ortiz-Fernandez L
AD  - Institute of Parasitology and Biomedicine Lopez-Neyra, CSIC, Parque Tecnologico 
      de La Salud, 18016, Granada, Spain.
FAU - Martin, Javier
AU  - Martin J
AD  - Institute of Parasitology and Biomedicine Lopez-Neyra, CSIC, Parque Tecnologico 
      de La Salud, 18016, Granada, Spain.
FAU - Alarcon-Riquelme, Marta E
AU  - Alarcon-Riquelme ME
AUID- ORCID: 0000-0002-7632-4154
AD  - GENYO. Center for Genomics and Oncological Research, Pfizer/University of 
      Granada/Andalusian Regional Government, Av de la Ilustracion 114, Parque 
      Tecnologico de La Salud, 18016, Granada, Spain. marta.alarcon@genyo.es.
AD  - Institute for Environmental Medicine, Karolinska Institutet, 171 77, Solna, 
      Sweden. marta.alarcon@genyo.es.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20220624
PL  - United States
TA  - Clin Rev Allergy Immunol
JT  - Clinical reviews in allergy & immunology
JID - 9504368
RN  - 0 (HLA Antigens)
RN  - 0 (Histocompatibility Antigens Class II)
RN  - 0 (Irf5 protein, mouse)
RN  - 0 (Interferon Regulatory Factors)
SB  - IM
MH  - Animals
MH  - Mice
MH  - Humans
MH  - *Sjogren's Syndrome/genetics
MH  - *Arthritis, Rheumatoid/genetics
MH  - *Lupus Erythematosus, Systemic/genetics
MH  - *Autoimmune Diseases
MH  - HLA Antigens/genetics
MH  - Histocompatibility Antigens Class II
MH  - *Rheumatic Diseases
MH  - *Scleroderma, Systemic/genetics
MH  - Interferon Regulatory Factors
OTO - NOTNLM
OT  - Autoimmunity
OT  - Common variation
OT  - Genome-wide association study
OT  - Rheumatoid arthritis
OT  - Systemic lupus erythematosus
OT  - Systemic sclerosis
EDAT- 2022/06/25 06:00
MHDA- 2023/05/10 06:42
CRDT- 2022/06/24 11:19
PHST- 2022/05/31 00:00 [accepted]
PHST- 2023/05/10 06:42 [medline]
PHST- 2022/06/25 06:00 [pubmed]
PHST- 2022/06/24 11:19 [entrez]
AID - 10.1007/s12016-022-08951-z [pii]
AID - 10.1007/s12016-022-08951-z [doi]
PST - ppublish
SO  - Clin Rev Allergy Immunol. 2023 Jun;64(3):392-411. doi: 
      10.1007/s12016-022-08951-z. Epub 2022 Jun 24.