Diversity of the KIR gene cluster in an urban Brazilian population


Autoria(s): Augusto, D. G.; Zehnder-Alves, L.; Pincerati, M. R.; Martin, M. P.; Carrington, M.; Petzl-Erler, Maria Luiza
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

05/11/2013

05/11/2013

2012

Resumo

The activity of natural killer cells depends on the balance between activating and inhibitory signals coming from their receptors. Among these are the killer cell immunoglobulin-like receptors (KIR) that recognize specific HLA class I allotypes. Here we characterized KIR genetic diversity and their HLA ligands in the population of Curitiba, Parana State (n = 164), and compared it with other worldwide populations. The distribution of 2DL4 alleles was also analyzed. The Curitiba population did not differ significantly from European and Euro-descendant populations, but as an admixed population showed higher genetic diversity. We found 27 KIR profiles, many of them uncommon in European populations, in agreement with the elevated historically recent gene flow in the study population. The frequencies of KIR genes and their respective HLA ligands were distributed independently and none of the analyzed individuals lacked functional KIR-HLA ligand combinations. KIR gene frequencies of 33 worldwide populations were consistent with geographic and ethnic distribution, in agreement with demography being the major factor shaping the observed gene content diversity of the KIR locus.

Laboratory of Human Molecular Genetics at the Department of Genetics of the Federal University of Parana

Laboratory of Human Molecular Genetics at the Department of Genetics of the Federal University of Parana

Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq)

Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq)

PRONEX

PRONEX

Institutos do Milenio

Institutos do Milenio

Fundacao Araucaria

Fundacao Araucaria

Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES)

Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES)

National Cancer Institute, National Institutes of Health

National Cancer Institute, National Institutes of Health [HHSN261200800001E]

NIH, National Cancer Institute, Center for Cancer Research

NIH, National Cancer Institute, Center for Cancer Research

Identificador

IMMUNOGENETICS, NEW YORK, v. 64, n. 2, supl. 4, Part 1-2, pp. 143-152, FEB, 2012

0093-7711

http://www.producao.usp.br/handle/BDPI/41761

10.1007/s00251-011-0565-1

http://dx.doi.org/10.1007/s00251-011-0565-1

Idioma(s)

eng

Publicador

SPRINGER

NEW YORK

Relação

IMMUNOGENETICS

Direitos

closedAccess

Copyright SPRINGER

Palavras-Chave #KIR GENES #KIR DIVERSITY #BRAZILIAN POPULATION #HLA LIGANDS #2DL4 ALLELE FREQUENCIES #IMMUNOGLOBULIN-LIKE RECEPTOR #NATURAL-KILLER-CELLS #CHROMOSOME 19Q13.4 #HAPLOTYPE ANALYSIS #NK CELLS #HLA-C #KIR2DL4 #ALLELES #POLYMORPHISMS #DISEASE #GENETICS & HEREDITY #IMMUNOLOGY
Tipo

article

original article

publishedVersion