PMID- 32983108
OWN - NLM
STAT- MEDLINE
DCOM- 20210412
LR  - 20210412
IS  - 1664-3224 (Electronic)
IS  - 1664-3224 (Linking)
VI  - 11
DP  - 2020
TI  - Single Nucleotide Polymorphism in KIR2DL1 Is Associated With HLA-C Expression in 
      Global Populations.
PG  - 1881
LID - 10.3389/fimmu.2020.01881 [doi]
LID - 1881
AB  - Regulation of NK cell activity is mediated through killer-cell 
      immunoglobulin-like receptors (KIR) ability to recognize human leukocyte antigen 
      (HLA) class I molecules as ligands. Interaction of KIR and HLA is implicated in 
      viral infections, autoimmunity, and reproduction and there is growing evidence of 
      the coevolution of these two independently segregating gene families. By 
      leveraging KIR and HLA-C data from 1000 Genomes consortium we observed that the 
      KIR2DL1 variant rs2304224(*)T is associated with lower expression of HLA-C in 
      individuals carrying the ligand HLA-C2 (p = 0.0059). Using flow cytometry, we 
      demonstrated that this variant is also associated with higher expression of 
      KIR2DL1 on the NK cell surface (p = 0.0002). Next, we applied next generation 
      sequencing to analyze KIR2DL1 sequence variation in 109 Euro and 75 Japanese 
      descendants. Analyzing the extended haplotype homozygosity, we show signals of 
      positive selection for rs4806553(*)G and rs687000(*)G, which are in linkage 
      disequilibrium with rs2304224(*)T. Our results suggest that lower expression of 
      HLA-C2 ligands might be compensated for higher expression of the receptor KIR2DL1 
      and bring new insights into the coevolution of KIR and HLA.
CI  - Copyright (c) 2020 Vargas, Dourado, Amorim, Ho, Calonga-Solis, Issler, Marin, 
      Beltrame, Petzl-Erler, Hollenbach and Augusto.
FAU - Vargas, Luciana de Brito
AU  - Vargas LB
AD  - Programa de Pos-Graduacao em Genetica, Departamento de Genetica, Universidade 
      Federal do Parana, Curitiba, Brazil.
FAU - Dourado, Renata M
AU  - Dourado RM
AD  - Programa de Pos-Graduacao em Genetica, Departamento de Genetica, Universidade 
      Federal do Parana, Curitiba, Brazil.
FAU - Amorim, Leonardo M
AU  - Amorim LM
AD  - Programa de Pos-Graduacao em Genetica, Departamento de Genetica, Universidade 
      Federal do Parana, Curitiba, Brazil.
FAU - Ho, Brenda
AU  - Ho B
AD  - Department of Neurology, Weill Institute for Neurosciences, University of 
      California, San Francisco, San Francisco, CA, United States.
FAU - Calonga-Solis, Veronica
AU  - Calonga-Solis V
AD  - Programa de Pos-Graduacao em Genetica, Departamento de Genetica, Universidade 
      Federal do Parana, Curitiba, Brazil.
FAU - Issler, Hellen C
AU  - Issler HC
AD  - Programa de Pos-Graduacao em Genetica, Departamento de Genetica, Universidade 
      Federal do Parana, Curitiba, Brazil.
FAU - Marin, Wesley M
AU  - Marin WM
AD  - Department of Neurology, Weill Institute for Neurosciences, University of 
      California, San Francisco, San Francisco, CA, United States.
FAU - Beltrame, Marcia H
AU  - Beltrame MH
AD  - Programa de Pos-Graduacao em Genetica, Departamento de Genetica, Universidade 
      Federal do Parana, Curitiba, Brazil.
FAU - Petzl-Erler, Maria Luiza
AU  - Petzl-Erler ML
AD  - Programa de Pos-Graduacao em Genetica, Departamento de Genetica, Universidade 
      Federal do Parana, Curitiba, Brazil.
FAU - Hollenbach, Jill A
AU  - Hollenbach JA
AD  - Department of Neurology, Weill Institute for Neurosciences, University of 
      California, San Francisco, San Francisco, CA, United States.
FAU - Augusto, Danillo G
AU  - Augusto DG
AD  - Programa de Pos-Graduacao em Genetica, Departamento de Genetica, Universidade 
      Federal do Parana, Curitiba, Brazil.
AD  - Department of Neurology, Weill Institute for Neurosciences, University of 
      California, San Francisco, San Francisco, CA, United States.
LA  - eng
GR  - U19 NS095774/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20200821
PL  - Switzerland
TA  - Front Immunol
JT  - Frontiers in immunology
JID - 101560960
RN  - 0 (HLA-C Antigens)
RN  - 0 (KIR2DL1 protein, human)
RN  - 0 (Receptors, KIR2DL1)
SB  - IM
MH  - HLA-C Antigens/biosynthesis/*genetics
MH  - Haplotypes
MH  - Humans
MH  - Killer Cells, Natural/*immunology
MH  - Linkage Disequilibrium
MH  - Polymorphism, Single Nucleotide
MH  - Receptors, KIR2DL1/*genetics
PMC - PMC7478174
OTO - NOTNLM
OT  - KIR
OT  - NK cells
OT  - coevolution
OT  - expression
OT  - linkage disequilibrium
OT  - natural selection
OT  - population genetics
EDAT- 2020/09/29 06:00
MHDA- 2021/04/13 06:00
PMCR- 2020/01/01
CRDT- 2020/09/28 05:40
PHST- 2020/05/22 00:00 [received]
PHST- 2020/07/13 00:00 [accepted]
PHST- 2020/09/28 05:40 [entrez]
PHST- 2020/09/29 06:00 [pubmed]
PHST- 2021/04/13 06:00 [medline]
PHST- 2020/01/01 00:00 [pmc-release]
AID - 10.3389/fimmu.2020.01881 [doi]
PST - epublish
SO  - Front Immunol. 2020 Aug 21;11:1881. doi: 10.3389/fimmu.2020.01881. eCollection 
      2020.