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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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.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 5","pages":"353-363"},"PeriodicalIF":2.3000,"publicationDate":"2022-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetic associations with lymphomas in Polish patients: A pooled-DNA genome-wide association analysis\",\"authors\":\"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\",\"doi\":\"10.1111/iji.12596\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>Several single nucleotide polymorphisms (SNPs) associated with susceptibility to Hodgkin lymphoma (HL) and diffuse large B-cell lymphoma (DLBCL) have been identified. 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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.
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.