PMID- 25405820
OWN - NLM
STAT- MEDLINE
DCOM- 20150825
LR  - 20141127
IS  - 1531-6963 (Electronic)
IS  - 1040-8711 (Linking)
VI  - 27
IP  - 1
DP  - 2015 Jan
TI  - Genetics of vasculitis.
PG  - 10-7
LID - 10.1097/BOR.0000000000000124 [doi]
AB  - PURPOSE OF REVIEW: We aim to give an overview of the recent progress in the 
      knowledge of the genetic component of vasculitides. RECENT FINDINGS: Using a 
      state-of-the-art imputation method to analyse the major histocompatibility 
      complex (MHC) region, Ombrello and colleagues narrowed down the association 
      between human leukocyte antigen (HLA)-B51 and Behcet's disease to a model of five 
      amino acids of the HLA-B molecule involved in the binding of the antigen, the 
      interactions with receptors on CD8 T cells and natural killer cells, and the 
      signal peptide of HLA-B, suggesting a crucial role of the cellular cytotoxicity 
      on this disease. Other recent genetic studies have identified several loci with 
      strong effects on vasculitis predisposition, most of them representing important 
      players in the immune and inflammatory response. These associations include 
      ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 in Behcet's disease; BLK and 
      CD40 in Kawasaki disease; SERPINA1 and SEMA6A in antineutrophil cytoplasmic 
      antibody associated vasculitides; IL12B and FCGR2A/ FCGR2A in Takayasu arteritis; 
      and CECR1 in a newly defined vascular inflammatory syndrome associated with 
      adenosine deaminase (ADA2) deficiency. Although other vasculitides, such as giant 
      cell arteritis (GCA) or immunoglobulin A vasculitis, have not benefitted by the 
      great advantage of the large-scale genetic analyses yet, some interesting 
      associations have been recently suggested, such as the classical functional 
      PTPN22 allele rs2476601 (R620W) with GCA. SUMMARY: The analysis of 
      high-throughput genotyping and exome-sequencing data has produced a considerable 
      advance in the identification of consistent genetic risk factors in vasculitides 
      during the last 3 years. Further collaborative efforts, which will increase the 
      sample size, and the use of custom arrays like the immunochip, will definitively 
      help to better understand the genetic basis of vasculitides and to identify the 
      common and specific molecular pathways underlying their pathophysiology.
FAU - Carmona, Francisco David
AU  - Carmona FD
AD  - aInstituto de Parasitologia y Biomedicina 'Lopez-Neyra', CSIC, Granada 
      bDepartment of Rheumatology, Hospital Universitario Marques de Valdecilla, 
      IDIVAL, Santander, Spain cUniversity of the Witwatersrand, Johannesburg, South 
      Africa.
FAU - Martin, Javier
AU  - Martin J
FAU - Gonzalez-Gay, Miguel A
AU  - Gonzalez-Gay MA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Curr Opin Rheumatol
JT  - Current opinion in rheumatology
JID - 9000851
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Genetic Markers
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Major Histocompatibility Complex/*genetics
MH  - Vasculitis/*genetics
EDAT- 2014/11/19 06:00
MHDA- 2015/08/26 06:00
CRDT- 2014/11/19 06:00
PHST- 2014/11/19 06:00 [entrez]
PHST- 2014/11/19 06:00 [pubmed]
PHST- 2015/08/26 06:00 [medline]
AID - 10.1097/BOR.0000000000000124 [doi]
PST - ppublish
SO  - Curr Opin Rheumatol. 2015 Jan;27(1):10-7. doi: 10.1097/BOR.0000000000000124.