HLA ISSN 2059-2302
BRIEF COMMUNICATION
KIR genotypic diversity in Portuguese and analysis of KIR
gene allocation after allogeneic hematopoietic stem cell
transplantation
D. Ligeiro
1
, S. Buhler
2,3
, M. Abecasis
4
, O. Abade
1
, A. Sanchez-Mazas
2,5
, M. Gomes da Silva
4,6
& H. Trindade
1
1 Lisbon Center for Blood and Transplantation, Instituto Português de Sangue e Transplantação, Lisbon, Portugal
2 Laboratory of Anthropology, Genetics and Peopling History, Department of Genetics and Evolution-Anthropology Unit, University of Geneva,
Geneva, Switzerland
3 Transplantation Immunology Unit & National Reference Laboratory for Histocompatibility, Department of Genetic and Laboratory Medicine, Geneva
University Hospital, Geneva, Switzerland
4 Hematology Department, Instituto Português de Oncologia de Lisboa, Francisco Gentil, EPE, Lisbon, Portugal
5 Institute of Genetics and Genomics in Geneva (iGE3), University of Geneva, Geneva, Switzerland
6 CEDOC, NOVA Medical School, Universidade Nova de Lisboa, Lisbon, Portugal
Key words
hematopoietic stem cell transplantation;
killer immunoglobulin-like receptors
genotypic diversity; killer
immunoglobulin-like receptors–human
leukocyte antigen ligand interaction; natural
killer cell alloreactivity
Correspondence
Dario Ligeiro
Lisbon Center for Blood and Transplantation
IPST-IP Alameda Linhas de Torres 117
1169-001 Lisbon
Portugal
Tel: 00351217504100
Fax: 00351217504142
e-mail: dario@ipst.min-saude.pt
Received 16 October 2015; revised 20
January 2016; accepted 8 March 2016
doi: 10.1111/tan.12795
Abstract
The diversity of killer-cell immunoglobulin-like receptors (KIR) genes was evaluated
in Portuguese and the observed genotypic profles were found related to the ones
reported in European populations. The KIR repertoire after hematopoietic stem cell
transplantation is determined by these gene frequencies and the KIR group B motifs are
the less common. We estimated donor–KIR/recipient–ligand interactions in transplants
with related donors and unrelated donors found in a local registry or from abroad.
A large fraction of transplants had all three ligands of inhibitory receptors, and
therefore, in theory were not prone to natural killer cell (NK) mediated alloreactivity.
Furthermore, the distribution of KIR alloreactive interactions was found independent of
the donor–recipient genetic proximity, probably because of different gene segregation
and comparable KIR frequencies in the donor pools.
Introduction
The function of mature natural killer (NK) cells is under
the dominant control of a repertoire of inhibitory receptors,
stochastically expressed, that comprises the variable killer-cell
immunoglobulin-like receptors (KIR) family (1). These recep-
tors recognize specifc forms of human leukocyte antigen
(HLA) class I molecules as markers of self in normal cells (2)
and a ligand compromised expression allows a large group of
activating NK receptors and co-receptors to trigger cytolytic
activity (3, 4). Several layers of complexity contribute to KIR
extensive genetic and cellular diversity, including variable gene
types and content, allelic polymorphism, the combination of
inherited haplotypes and a variegated clonal expression (5, 6).
At present, a cluster of 16 KIR genes have been characterized
in humans, of which 8 are NK cell inhibitors (KIR2DL1–5,
3DL1–3), 6 NK cell activators (KIR2DS1–5, 3DS1) and 2
pseudogenes (KIR2DP1, 3DP1). The genomic structure of KIR
haplotypes is defned by a framework of conserved genes
located at the centromeric (3DL3) and telomeric (3DL2) ends,
as well as in the central part (3DP1 and 2DL4) (7). These
framework genes defne two regions; a centromeric, with two
alternative gene-content motifs named Cen-A and Cen-B and a
telomeric, also with two types of contents, named Tel-A and
Tel-B. Cen-A and Tel-A combine to each other to form rel-
atively short haplotypes named group A KIR haplotypes. All
other motif combinations, i.e. Cen-B with Tel-B, Cen-B with
Tel-A, and Cen-A with Tel-B are collectively called group B
KIR haplotypes (8). The main distinction between group A and
group B haplotypes is in the number of activator KIR genes.
Group A haplotypes contain at most a single activator gene,
© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd 375
HLA, 2016, 87, 375–380