波兰患者淋巴瘤的遗传关联:全基因组dna关联分析

IF 2.3 4区 医学 Q3 GENETICS & HEREDITY
Ewa Paszkiewicz-Kozik, Anna Kluska, Magdalena Piątkowska, Aneta Bałabas, Natalia Żeber-Lubecka, Jakub Karczmarski, Krzysztof Goryca, Maria Kulecka, Elżbieta Wojciechowska-Lampka, Włodzimierz Osiadacz, Joanna Romejko-Jarosińska, Monika Świerkowska, Agnieszka Paziewska, Filip Ambrożkiewicz, Jan Walewski, Michał Mikula, Jerzy Ostrowski
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引用次数: 0

摘要

几个与霍奇金淋巴瘤(HL)和弥漫性大b细胞淋巴瘤(DLBCL)易感性相关的单核苷酸多态性(snp)已经被确定。本研究的目的是确定波兰患者HL和DLBCL的易感位点。总共招募了DLBCL (n = 218, HL患者(n = 224)和健康个体(n = 1181)。淋巴瘤诊断基于标准标准。利用混合dna样本对lumina Infinium Omni2.5 Exome-8 v1.3进行全基因组关联研究(GWAS),并对所选位点进行个体TaqMan SNP基因分型复制。GWAS分别检测到与DLBCL和HL相关的13个和7个snp。在重复研究中,分别有6个和7个snp在DLBCL和HL队列中经过多次检测校正后达到显著性。与DLBCL和HL相关的1个和4个snp分别位于主要组织相容性复合体(MHC)区域内,两个snp位于主要组织相容性复合体(MHC)区域附近。总之,在以往的研究中,大多数与HL和DLBCL病因相关的基因座在免疫功能中具有潜在的作用。我们的混合dna GWAS鉴定了波兰人群中DLBCL和HL的几个易感位点;其中一些snp位于MHC内或附近,其他相关snp位于MHC外。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic associations with lymphomas in Polish patients: A pooled-DNA genome-wide association analysis

Several single nucleotide polymorphisms (SNPs) associated with susceptibility to Hodgkin lymphoma (HL) and diffuse large B-cell lymphoma (DLBCL) have been identified. The aim of this study was to identify susceptibility loci for HL and DLBCL in Polish patients. Altogether, DLBCL (n = 218 and HL patients (n = 224) and healthy individuals (n = 1181) were recruited. Lymphoma diagnosis was based on standard criteria. Genome-wide association study (GWAS) was performed using pooled-DNA samples on llumina Infinium Omni2.5 Exome-8 v1.3, and selected loci were replicated by TaqMan SNP genotyping of individuals. GWAS detected thirteen and seven SNPs associated with DLBCL and HL, respectively. In the replication study, six and seven SNPs reached significance after correction for multiple testing in the DLBCL and HL cohorts, respectively. One and four SNPs associated with DLBCL and HL, respectively, were localized within, and two SNPs—near the major histocompatibility complex (MHC) region. In conclusion, the majority of loci associated with HL and DLBCL aetiology in previous studies have potential roles in immune function. Our pooled-DNA GWAS enabled the identification of several susceptibility loci for DLBCL and HL in the Polish population; some of them were mapped within or adjacent to the MHC, and other associated SNPs were located outside the MHC.

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来源期刊
CiteScore
4.70
自引率
0.00%
发文量
48
审稿时长
6-12 weeks
期刊介绍: The International Journal of Immunogenetics (formerly European Journal of Immunogenetics) publishes original contributions on the genetic control of components of the immune system and their interactions in both humans and experimental animals. The term ''genetic'' is taken in its broadest sense to include studies at the evolutionary, molecular, chromosomal functional and population levels in both health and disease. Examples are: -studies of blood groups and other surface antigens- cell interactions and immune response- receptors, antibodies, complement components and cytokines- polymorphism- evolution of the organisation, control and function of immune system components- anthropology and disease associations- the genetics of immune-related disease: allergy, autoimmunity, immunodeficiency and other immune pathologies- All papers are seen by at least two independent referees and only papers of the highest quality are accepted.
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