Family-based Association Study of Killer Cell Immunoglobulin-Like Receptor Genes with Leukemia

NK cell function is controlled by the cell expression of killer immunoglobulin-like receptors (KIRs) and their ligation with the corresponding HLA ligands. Various malignancies have been associated with certain KIRs surface cell expression and various KIR/HLA ligand combinations. Prior research usin...

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Autores principales:	Varbanova V., Mihaylova S., Naumova E., Cotoc C., Mihaylova A.
Formato:	article
Lenguaje:	EN
Publicado:	Sciendo 2019
Materias:	kir hla class i ligand leukemia family-based study Medicine R
Acceso en línea:	https://doaj.org/article/c075bbca10b24d98ace1facb559622d3
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spelling	oai:doaj.org-article:c075bbca10b24d98ace1facb559622d32021-12-02T19:05:13ZFamily-based Association Study of Killer Cell Immunoglobulin-Like Receptor Genes with Leukemia0324-175010.2478/amb-2019-0023https://doaj.org/article/c075bbca10b24d98ace1facb559622d32019-10-01T00:00:00Zhttps://doi.org/10.2478/amb-2019-0023https://doaj.org/toc/0324-1750NK cell function is controlled by the cell expression of killer immunoglobulin-like receptors (KIRs) and their ligation with the corresponding HLA ligands. Various malignancies have been associated with certain KIRs surface cell expression and various KIR/HLA ligand combinations. Prior research using case/control study design demonstrates the role of KIR and KIR HLA ligands as genetic factor involved in tumor susceptibility. The objective of this study was to investigate the family-based association of KIRs, HLA class I ligands and KIR/ligand combinations with leukemia diagnosis in families having a leukemia diagnosed child. Sixty-seven families that met the index leukemia case criteria (acute lymphoblastic leukemia, ALL, n = 45; acute myeloid leukemia, AML, n = 13; chronic myeloid leukemia, CML, n = 9; first degree healthy relatives n = 159) were examined. Our study consisted of two phases. In Phase1 case-control study, we primarily compared patients to their healthy siblings to asses if a marker or genotype may be associated with leukemia, excluding the impact of the environment. Phase 2 consisted of a secondary family-based association study. KIR genotyping was performed by PCR-SSP method. KIR HLA ligands were defined by direct method using PCR-SSP method and/or indirect base on high resolution typing of HLA-A, -B, -C alleles. Results of phase 1 showed an increase in the frequency of KIR genotype (with a ratio = 0.57; higher frequency for inhibitory KIRs vs. activating KIRs) among leukemia patients compared to healthy siblings. Results of the phase 2 familial study observed an association between HLA-C1+/BBw4+/ABw4+ haplotype (a mediator of inhibitory signals) and leukemia. Also, we concluded that the absence of HLA-ABw4 alleles was related to leukemia development.Varbanova V.Mihaylova S.Naumova E.Cotoc C.Mihaylova A.Sciendoarticlekirhla class i ligandleukemiafamily-based studyMedicineRENActa Medica Bulgarica, Vol 46, Iss 3, Pp 10-17 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	kir hla class i ligand leukemia family-based study Medicine R
spellingShingle	kir hla class i ligand leukemia family-based study Medicine R Varbanova V. Mihaylova S. Naumova E. Cotoc C. Mihaylova A. Family-based Association Study of Killer Cell Immunoglobulin-Like Receptor Genes with Leukemia
description	NK cell function is controlled by the cell expression of killer immunoglobulin-like receptors (KIRs) and their ligation with the corresponding HLA ligands. Various malignancies have been associated with certain KIRs surface cell expression and various KIR/HLA ligand combinations. Prior research using case/control study design demonstrates the role of KIR and KIR HLA ligands as genetic factor involved in tumor susceptibility. The objective of this study was to investigate the family-based association of KIRs, HLA class I ligands and KIR/ligand combinations with leukemia diagnosis in families having a leukemia diagnosed child. Sixty-seven families that met the index leukemia case criteria (acute lymphoblastic leukemia, ALL, n = 45; acute myeloid leukemia, AML, n = 13; chronic myeloid leukemia, CML, n = 9; first degree healthy relatives n = 159) were examined. Our study consisted of two phases. In Phase1 case-control study, we primarily compared patients to their healthy siblings to asses if a marker or genotype may be associated with leukemia, excluding the impact of the environment. Phase 2 consisted of a secondary family-based association study. KIR genotyping was performed by PCR-SSP method. KIR HLA ligands were defined by direct method using PCR-SSP method and/or indirect base on high resolution typing of HLA-A, -B, -C alleles. Results of phase 1 showed an increase in the frequency of KIR genotype (with a ratio = 0.57; higher frequency for inhibitory KIRs vs. activating KIRs) among leukemia patients compared to healthy siblings. Results of the phase 2 familial study observed an association between HLA-C1+/BBw4+/ABw4+ haplotype (a mediator of inhibitory signals) and leukemia. Also, we concluded that the absence of HLA-ABw4 alleles was related to leukemia development.
format	article
author	Varbanova V. Mihaylova S. Naumova E. Cotoc C. Mihaylova A.
author_facet	Varbanova V. Mihaylova S. Naumova E. Cotoc C. Mihaylova A.
author_sort	Varbanova V.
title	Family-based Association Study of Killer Cell Immunoglobulin-Like Receptor Genes with Leukemia
title_short	Family-based Association Study of Killer Cell Immunoglobulin-Like Receptor Genes with Leukemia
title_full	Family-based Association Study of Killer Cell Immunoglobulin-Like Receptor Genes with Leukemia
title_fullStr	Family-based Association Study of Killer Cell Immunoglobulin-Like Receptor Genes with Leukemia
title_full_unstemmed	Family-based Association Study of Killer Cell Immunoglobulin-Like Receptor Genes with Leukemia
title_sort	family-based association study of killer cell immunoglobulin-like receptor genes with leukemia
publisher	Sciendo
publishDate	2019
url	https://doaj.org/article/c075bbca10b24d98ace1facb559622d3
work_keys_str_mv	AT varbanovav familybasedassociationstudyofkillercellimmunoglobulinlikereceptorgeneswithleukemia AT mihaylovas familybasedassociationstudyofkillercellimmunoglobulinlikereceptorgeneswithleukemia AT naumovae familybasedassociationstudyofkillercellimmunoglobulinlikereceptorgeneswithleukemia AT cotocc familybasedassociationstudyofkillercellimmunoglobulinlikereceptorgeneswithleukemia AT mihaylovaa familybasedassociationstudyofkillercellimmunoglobulinlikereceptorgeneswithleukemia
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Family-based Association Study of Killer Cell Immunoglobulin-Like Receptor Genes with Leukemia

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