PMID- 27708262
OWN - NLM
STAT- MEDLINE
DCOM- 20170518
LR  - 20200306
IS  - 1476-5470 (Electronic)
IS  - 1466-4879 (Print)
IS  - 1466-4879 (Linking)
VI  - 17
IP  - 7
DP  - 2016 Dec
TI  - Evaluation of KIR3DL1/KIR3DS1 polymorphism in Behcet's disease.
PG  - 396-399
LID - 10.1038/gene.2016.36 [doi]
AB  - The Behcet's disease (BD)-associated human leukocyte antigen (HLA) allele, 
      HLA-B*51 (B*51), encodes a ligand for a pair of allelic killer 
      immunoglobulin-like receptors (KIR) present on cytotoxic cells-KIR3DL1, which 
      inhibits their cytotoxicity, and KIR3DS1, which activates their cytotoxic 
      activity. We tested whether KIR-regulated mechanisms contribute to BD by testing 
      for association of KIR3DL1/KIR3DS1 genotypes with disease in 1799 BD patients and 
      1710 healthy controls from Turkey, as well as in different subsets of individuals 
      with HLA-type-defined ligands for the KIR3D receptors. HLA types were imputed 
      from single nucleotide polymorphism genotypes determined with the Immunochip. The 
      presence of inhibitory KIR3DL1 or activating KIR3DS1 alleles did not differ 
      significantly between cases and controls (KIR3DL1: 92.9% vs 93.4%, 
      P(dominant)=0.55; KIR3DS1: 42.7% vs 41.0%, P(dominant)=0.29). The KIR3DL1/KIR3DS1 
      alleles were also present at similar frequencies among cases and controls bearing 
      HLA-B with a Bw4 motif; HLA-B with a Bw4 motif with isoleucine at position 80; 
      and HLA-B*51. Our results suggest that pathogenic mechanisms associated with 
      HLA-B*51 do not primarily involve differential interactions with KIR3DL1 and 
      KIR3DS1 receptors. However, due to the complexity of this locus (that is, 
      sequence variation and copy number variation), we cannot exclude a role for other 
      types of KIR variation in the pathogenesis of BD.
FAU - Erer, B
AU  - Erer B
AD  - Translational Genetics and Genomics Unit, National Institute of Arthritis and 
      Musculoskeletal and Skin Diseases, Bethesda, MD, USA.
AD  - Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of 
      Medicine, Istanbul University, Istanbul, Turkey.
FAU - Takeuchi, M
AU  - Takeuchi M
AD  - Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, 
      MD, USA.
FAU - Ustek, D
AU  - Ustek D
AD  - Department of Genetics, Institute for Experimental Medicine, Istanbul University, 
      Istanbul, Turkey.
FAU - Tugal-Tutkun, I
AU  - Tugal-Tutkun I
AD  - Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of 
      Medicine, Istanbul University, Istanbul, Turkey.
FAU - Seyahi, E
AU  - Seyahi E
AD  - Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Faculty of 
      Medicine, Istanbul University, Istanbul, Turkey.
FAU - Ozyazgan, Y
AU  - Ozyazgan Y
AD  - Department of Ophthalmology, Cerrahpasa Faculty of Medicine, Istanbul University, 
      Istanbul, Turkey.
FAU - Duymaz-Tozkir, J
AU  - Duymaz-Tozkir J
AD  - Department of Immunology, Institute of Health Sciences, Istanbul University, 
      Istanbul, Turkey.
FAU - Gul, A
AU  - Gul A
AD  - Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of 
      Medicine, Istanbul University, Istanbul, Turkey.
FAU - Kastner, D L
AU  - Kastner DL
AD  - Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, 
      MD, USA.
FAU - Remmers, E F
AU  - Remmers EF
AD  - Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, 
      MD, USA.
FAU - Ombrello, M J
AU  - Ombrello MJ
AD  - Translational Genetics and Genomics Unit, National Institute of Arthritis and 
      Musculoskeletal and Skin Diseases, Bethesda, MD, USA.
LA  - eng
GR  - Z99 AR999999/Intramural NIH HHS/United States
PT  - Journal Article
DEP - 20161006
PL  - England
TA  - Genes Immun
JT  - Genes and immunity
JID - 100953417
RN  - 0 (HLA Antigens)
RN  - 0 (Receptors, KIR3DL1)
RN  - 0 (Receptors, KIR3DS1)
SB  - IM
MH  - Behcet Syndrome/*genetics
MH  - Genotype
MH  - HLA Antigens/genetics
MH  - Humans
MH  - *Polymorphism, Single Nucleotide
MH  - Receptors, KIR3DL1/*genetics
MH  - Receptors, KIR3DS1/*genetics
PMC - PMC5590678
MID - NIHMS901696
COIS- Conflict of Interest The authors have no competing financial interest or other 
      conflicts of interest to disclose with respect to the work described.
EDAT- 2016/10/07 06:00
MHDA- 2017/05/19 06:00
PMCR- 2017/09/08
CRDT- 2016/10/07 06:00
PHST- 2016/05/13 00:00 [received]
PHST- 2016/07/30 00:00 [revised]
PHST- 2016/08/03 00:00 [accepted]
PHST- 2016/10/07 06:00 [pubmed]
PHST- 2017/05/19 06:00 [medline]
PHST- 2016/10/07 06:00 [entrez]
PHST- 2017/09/08 00:00 [pmc-release]
AID - gene201636 [pii]
AID - 10.1038/gene.2016.36 [doi]
PST - ppublish
SO  - Genes Immun. 2016 Dec;17(7):396-399. doi: 10.1038/gene.2016.36. Epub 2016 Oct 6.