杀伤细胞免疫球蛋白样受体基因座多态性：基因分型与疾病关联分析
KIR locus polymorphisms: genotyping and disease association analysis.
作者信息
Martin Maureen P, Carrington Mary
机构信息
Laboratory of Genomic Diversity, SAIC-Frederick, Inc., NCI-Frederick, Frederick, MD, USA.
出版信息
Methods Mol Biol. 2008;415:49-64. doi: 10.1007/978-1-59745-570-1_3.
Abstract
The genes encoding the killer immunoglobulin-like receptors (KIR) are situated within a segment of DNA that has undergone expansion and contraction over time due in large part to unequal crossing over. Consequently, individuals exhibit considerable haplotypic variation in terms of gene content. The highly polymorphic human leukocyte antigen (HLA) class I loci encode ligands for the KIR; thus, it is not surprising that KIR genes also show significant allelic polymorphism. As a result of the receptor-ligand relationship between KIR and HLA, functionally relevant KIR-HLA combinations need to be considered in the analysis of these genes as they relate to disease outcomes. This chapter will describe a genotyping method for identifying the presence/absence of the KIR genes and general approaches to data analysis in disease association studies.
摘要
编码杀伤细胞免疫球蛋白样受体（KIR）的基因位于一段DNA片段中，该片段由于大部分是不等交换而随时间经历了扩增和收缩。因此，个体在基因含量方面表现出相当大的单倍型变异。高度多态的人类白细胞抗原（HLA）I类基因座编码KIR的配体；因此，KIR基因也显示出显著的等位基因多态性也就不足为奇了。由于KIR和HLA之间的受体-配体关系，在分析这些与疾病结局相关的基因时，需要考虑功能相关的KIR-HLA组合。本章将描述一种用于鉴定KIR基因存在与否的基因分型方法以及疾病关联研究中的数据分析一般方法。
相似文献
1
KIR locus polymorphisms: genotyping and disease association analysis.
Methods Mol Biol. 2008;415:49-64. doi: 10.1007/978-1-59745-570-1_3.
2
Association of the Genetic Diversity of Killer Cell Immunoglobulin-like Receptor Genes and HLA-C Ligand in Saudi Women With Thyroid Cancer.
Cancer Control. 2024 Jan-Dec;31:10732748241274495. doi: 10.1177/10732748241274495.
3
KIR genotyping by multiplex PCR-SSP.
Methods Mol Biol. 2010;612:365-75. doi: 10.1007/978-1-60761-362-6_25.
4
KIR haplotypes defined by segregation analysis in 59 Centre d'Etude Polymorphisme Humain (CEPH) families.
Immunogenetics. 2008 Dec;60(12):767-74. doi: 10.1007/s00251-008-0334-y. Epub 2008 Oct 30.
5
Investigation of Killer Immunoglobulin-like Receptor (KIR) and HLA Genotypes to Predict the Occurrence of Acute Allograft Rejection after Kidney Transplantation.
Iran J Allergy Asthma Immunol. 2017 Jun;16(3):245-255.
6
Increased frequencies of the killer immunoglobulin-like receptor genes KIR2DL2 and KIR2DS2 are associated with neuroblastoma.
Tissue Antigens. 2015 Sep;86(3):172-7. doi: 10.1111/tan.12608. Epub 2015 Jul 22.
7
Analysis of killer cell immunoglobulin-like receptors (KIRs) and their HLA ligand genes polymorphisms in Iranian patients with systemic sclerosis.
Clin Rheumatol. 2017 Apr;36(4):853-862. doi: 10.1007/s10067-016-3526-0. Epub 2017 Jan 24.
8
Co-evolution of human leukocyte antigen (HLA) class I ligands with killer-cell immunoglobulin-like receptors (KIR) in a genetically diverse population of sub-Saharan Africans.
PLoS Genet. 2013 Oct;9(10):e1003938. doi: 10.1371/journal.pgen.1003938. Epub 2013 Oct 31.
9
Imbalance of Genes Encoding Natural Killer Immunoglobulin-Like Receptors and Human Leukocyte Antigen in Patients With Biliary Cancer.
Gastroenterology. 2019 Oct;157(4):1067-1080.e9. doi: 10.1053/j.gastro.2019.06.023. Epub 2019 Jun 21.
10
Killer-cell immunoglobulin-like receptor (KIR) and human leukocyte antigen (HLA) class I genetic diversity in four South African populations.
Hum Immunol. 2017 Jul-Aug;78(7-8):503-509. doi: 10.1016/j.humimm.2017.05.006. Epub 2017 May 29.
引用本文的文献
1
The KIR2DL1 intermediate upstream element participates in gene activation.
Immunogenetics. 2023 Dec;75(6):495-506. doi: 10.1007/s00251-023-01321-9. Epub 2023 Oct 6.
2
Role of the Killer Immunoglobulin-like Receptor and Human Leukocyte Antigen I Complex Polymorphisms in Kaposi Sarcoma-Associated Herpesvirus Infection.
Open Forum Infect Dis. 2023 Aug 18;10(8):ofad435. doi: 10.1093/ofid/ofad435. eCollection 2023 Aug.
3
Distribution of KIR Genes and Their HLA Ligands in Different Viral Infectious Diseases: Frequency Study in Sicilian Population.
Int J Mol Sci. 2022 Dec 7;23(24):15466. doi: 10.3390/ijms232415466.
4
Practical Considerations and Workflow in Utilizing KIR Genotyping in Transplantation Medicine.
Methods Mol Biol. 2022;2463:291-310. doi: 10.1007/978-1-0716-2160-8_20.
5
An HLA-I signature favouring KIR-educated Natural Killer cells mediates immune control of HIV in children and contrasts with the HLA-B-restricted CD8+ T-cell-mediated immune control in adults.
PLoS Pathog. 2021 Nov 18;17(11):e1010090. doi: 10.1371/journal.ppat.1010090. eCollection 2021 Nov.
6
HLA-C and KIR permutations influence chronic obstructive pulmonary disease risk.
JCI Insight. 2021 Oct 8;6(19):e150187. doi: 10.1172/jci.insight.150187.
7
Improving selection of patients with metastatic colorectal cancer to benefit from cetuximab based on KIR genotypes.
J Immunother Cancer. 2021 Apr;9(4). doi: 10.1136/jitc-2020-001705.
8
Killer-Cell Immunoglobulin-Like Receptors (KIR) in HIV-Exposed Infants in Cameroon.
J Immunol Res. 2021 Jan 13;2021:9053280. doi: 10.1155/2021/9053280. eCollection 2021.
9
Association of Inhibitory Killer Cell Immunoglobulin-like Receptor Ligands With Higher Plasmodium falciparum Parasite Prevalence.
J Infect Dis. 2021 Jul 2;224(1):175-183. doi: 10.1093/infdis/jiaa698.
10
qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes.
J Vis Exp. 2019 Mar 6(145). doi: 10.3791/58646.
本文引用的文献
1
Activation of NK cells by an endocytosed receptor for soluble HLA-G.
PLoS Biol. 2006 Jan;4(1):e9. doi: 10.1371/journal.pbio.0040009.
2
The impact of variation at the KIR gene cluster on human disease.
Curr Top Microbiol Immunol. 2006;298:225-57. doi: 10.1007/3-540-27743-9_12.
3
Variation of the killer cell immunoglobulin-like receptors and HLA-C genes in nasopharyngeal carcinoma.
Cancer Epidemiol Biomarkers Prev. 2005 Nov;14(11 Pt 1):2673-7. doi: 10.1158/1055-9965.EPI-05-0229.
4
NK cell recognition.
Annu Rev Immunol. 2005;23:225-74. doi: 10.1146/annurev.immunol.23.021704.115526.
5
The silent KIR3DP1 gene (CD158c) is transcribed and might encode a secreted receptor in a minority of humans, in whom the KIR3DP1, KIR2DL4 and KIR3DL1/KIR3DS1 genes are duplicated.
Eur J Immunol. 2005 Jan;35(1):16-24. doi: 10.1002/eji.200425493.
6
Combinations of maternal KIR and fetal HLA-C genes influence the risk of preeclampsia and reproductive success.
J Exp Med. 2004 Oct 18;200(8):957-65. doi: 10.1084/jem.20041214. Epub 2004 Oct 11.
7
Cutting edge: heterozygote advantage in autoimmune disease: hierarchy of protection/susceptibility conferred by HLA and killer Ig-like receptor combinations in psoriatic arthritis.
J Immunol. 2004 Oct 1;173(7):4273-6. doi: 10.4049/jimmunol.173.7.4273.
8
Gene for the activating natural killer cell receptor, KIR2DS1, is associated with susceptibility to psoriasis vulgaris.
Hum Immunol. 2004 Jul;65(7):758-66. doi: 10.1016/j.humimm.2004.05.008.
9
Association of killer cell immunoglobulin-like receptors with scleroderma.
Arthritis Rheum. 2004 May;50(5):1561-5. doi: 10.1002/art.20216.
10
Activation of a subset of human NK cells upon contact with Plasmodium falciparum-infected erythrocytes.
J Immunol. 2003 Nov 15;171(10):5396-405. doi: 10.4049/jimmunol.171.10.5396.
Zotero 插件