PMID- 22835281
OWN - NLM
STAT- MEDLINE
DCOM- 20130429
LR  - 20220330
IS  - 1399-0039 (Electronic)
IS  - 0001-2815 (Linking)
VI  - 80
IP  - 2
DP  - 2012 Aug
TI  - New insights into the genetics of immune responses in rheumatoid arthritis.
PG  - 105-18
LID - 10.1111/j.1399-0039.2012.01939.x [doi]
AB  - Rheumatoid arthritis (RA) is a common autoimmune disease with a strong genetic 
      component. Numerous aberrant immune responses have been described during the 
      evolution of the disease. In later years, the appearance of anti-citrullinated 
      protein antibodies (ACPAs) has become a hallmark for the diagnosis and prognosis 
      of RA. The post-translational transformation of arginine residues of proteins and 
      peptides into citrulline (citrullination) is a natural process in the body, but 
      for unknown reasons autoreactivity towards citrullinated residues may develop in 
      disposed individuals. ACPAs are often found years before clinical manifestations. 
      ACPAs are present in about 70% of RA patients and constitute an important disease 
      marker, distinguishing patient groups with different prognoses and different 
      responses to various treatments. Inside the human leukocyte antigen (HLA) region, 
      some HLA-DRB1 alleles are strongly associated with their production. Genome-wide 
      association studies in large patient cohorts have defined a great number of 
      single nucleotide polymorphisms (SNPs) outside of the HLA region that are 
      associated with ACPA positive (ACPA+) RA. The SNPs are generally located close to 
      or within genes involved in the immune response or signal transduction in immune 
      cells. Some environmental factors such as tobacco smoking are also positively 
      correlated with ACPA production. In this review, we will describe the genes and 
      loci associated with ACPA+ RA or ACPA- RA and attempt to clarify their potential 
      role in the development of the disease.
CI  - (c) 2012 John Wiley & Sons A/S.
FAU - Ruyssen-Witrand, A
AU  - Ruyssen-Witrand A
AD  - INSERM, UMR1027, Toulouse, France.
FAU - Constantin, A
AU  - Constantin A
FAU - Cambon-Thomsen, A
AU  - Cambon-Thomsen A
FAU - Thomsen, M
AU  - Thomsen M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
RN  - 0 (Autoantibodies)
RN  - 0 (Biomarkers)
RN  - 0 (HLA-DRB1 Chains)
RN  - 29VT07BGDA (Citrulline)
SB  - IM
MH  - Arthritis, Rheumatoid/*genetics/immunology
MH  - Autoantibodies/biosynthesis/*immunology
MH  - Autoimmunity/genetics
MH  - Biomarkers/metabolism
MH  - Citrulline/*immunology/metabolism
MH  - Gene Expression/immunology
MH  - Genetic Loci/immunology
MH  - Genome-Wide Association Study
MH  - HLA-DRB1 Chains/*genetics/immunology
MH  - Humans
MH  - Polymorphism, Single Nucleotide/genetics/immunology
MH  - Protein Processing, Post-Translational/genetics/*immunology
MH  - Risk Factors
MH  - Signal Transduction/genetics/immunology
EDAT- 2012/07/28 06:00
MHDA- 2013/04/30 06:00
CRDT- 2012/07/28 06:00
PHST- 2012/07/28 06:00 [entrez]
PHST- 2012/07/28 06:00 [pubmed]
PHST- 2013/04/30 06:00 [medline]
AID - 10.1111/j.1399-0039.2012.01939.x [doi]
PST - ppublish
SO  - Tissue Antigens. 2012 Aug;80(2):105-18. doi: 10.1111/j.1399-0039.2012.01939.x.