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000276324 1001_ $$aClavero, Esther$$b0
000276324 245__ $$aPolymorphisms within Autophagy-Related Genes as Susceptibility Biomarkers for Multiple Myeloma: A Meta-Analysis of Three Large Cohorts and Functional Characterization.
000276324 260__ $$aBasel$$bMolecular Diversity Preservation International$$c2023
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000276324 520__ $$aMultiple myeloma (MM) arises following malignant proliferation of plasma cells in the bone marrow, that secrete high amounts of specific monoclonal immunoglobulins or light chains, resulting in the massive production of unfolded or misfolded proteins. Autophagy can have a dual role in tumorigenesis, by eliminating these abnormal proteins to avoid cancer development, but also ensuring MM cell survival and promoting resistance to treatments. To date no studies have determined the impact of genetic variation in autophagy-related genes on MM risk. We performed meta-analysis of germline genetic data on 234 autophagy-related genes from three independent study populations including 13,387 subjects of European ancestry (6863 MM patients and 6524 controls) and examined correlations of statistically significant single nucleotide polymorphisms (SNPs; p < 1 × 10-9) with immune responses in whole blood, peripheral blood mononuclear cells (PBMCs), and monocyte-derived macrophages (MDM) from a large population of healthy donors from the Human Functional Genomic Project (HFGP). We identified SNPs in six loci, CD46, IKBKE, PARK2, ULK4, ATG5, and CDKN2A associated with MM risk (p = 4.47 × 10-4-5.79 × 10-14). Mechanistically, we found that the ULK4rs6599175 SNP correlated with circulating concentrations of vitamin D3 (p = 4.0 × 10-4), whereas the IKBKErs17433804 SNP correlated with the number of transitional CD24+CD38+ B cells (p = 4.8 × 10-4) and circulating serum concentrations of Monocyte Chemoattractant Protein (MCP)-2 (p = 3.6 × 10-4). We also found that the CD46rs1142469 SNP correlated with numbers of CD19+ B cells, CD19+CD3- B cells, CD5+IgD- cells, IgM- cells, IgD-IgM- cells, and CD4-CD8- PBMCs (p = 4.9 × 10-4-8.6 × 10-4) and circulating concentrations of interleukin (IL)-20 (p = 0.00082). Finally, we observed that the CDKN2Ars2811710 SNP correlated with levels of CD4+EMCD45RO+CD27- cells (p = 9.3 × 10-4). These results suggest that genetic variants within these six loci influence MM risk through the modulation of specific subsets of immune cells, as well as vitamin D3-, MCP-2-, and IL20-dependent pathways.
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000276324 650_7 $$2Other$$aautophagy
000276324 650_7 $$2Other$$agenetic susceptibility
000276324 650_7 $$2Other$$agenetic variants
000276324 650_7 $$2Other$$amultiple myeloma
000276324 650_7 $$2NLM Chemicals$$aBiomarkers
000276324 650_7 $$2NLM Chemicals$$aImmunoglobulin M
000276324 650_2 $$2MeSH$$aHumans
000276324 650_2 $$2MeSH$$aMultiple Myeloma: genetics
000276324 650_2 $$2MeSH$$aMultiple Myeloma: pathology
000276324 650_2 $$2MeSH$$aLeukocytes, Mononuclear: pathology
000276324 650_2 $$2MeSH$$aBiomarkers
000276324 650_2 $$2MeSH$$aImmunoglobulin M
000276324 650_2 $$2MeSH$$aAutophagy
000276324 7001_ $$00000-0002-4651-3675$$aSanchez-Maldonado, José Manuel$$b1
000276324 7001_ $$0P:(DE-He78)b791a47b92809f7c54501331f72e0243$$aMacauda, Angelica$$b2$$udkfz
000276324 7001_ $$aTer Horst, Rob$$b3
000276324 7001_ $$00000-0001-6580-0971$$aSampaio-Marques, Belém$$b4
000276324 7001_ $$00000-0001-9796-8365$$aJurczyszyn, Artur$$b5
000276324 7001_ $$aClay-Gilmour, Alyssa$$b6
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000276324 7001_ $$aHildebrandt, Michelle A T$$b8
000276324 7001_ $$aWeinhold, Niels$$b9
000276324 7001_ $$aBuda, Gabriele$$b10
000276324 7001_ $$aGarcía-Sanz, Ramón$$b11
000276324 7001_ $$00000-0002-3205-5781$$aTomczak, Waldemar$$b12
000276324 7001_ $$00000-0001-6807-1524$$aVogel, Ulla$$b13
000276324 7001_ $$00000-0002-2079-6638$$aJerez, Andrés$$b14
000276324 7001_ $$aZawirska, Daria$$b15
000276324 7001_ $$aWątek, Marzena$$b16
000276324 7001_ $$aHofmann, Jonathan N$$b17
000276324 7001_ $$00000-0001-8364-6357$$aLandi, Stefano$$b18
000276324 7001_ $$aSpinelli, John J$$b19
000276324 7001_ $$00000-0002-8199-2018$$aButrym, Aleksandra$$b20
000276324 7001_ $$aKumar, Abhishek$$b21
000276324 7001_ $$aMartínez-López, Joaquín$$b22
000276324 7001_ $$00000-0001-7899-5966$$aGalimberti, Sara$$b23
000276324 7001_ $$aSarasquete, María Eugenia$$b24
000276324 7001_ $$00000-0001-5225-3921$$aSubocz, Edyta$$b25
000276324 7001_ $$00000-0003-2772-8870$$aIskierka-Jażdżewska, Elzbieta$$b26
000276324 7001_ $$00000-0003-4946-9099$$aGiles, Graham G$$b27
000276324 7001_ $$aRybicka-Ramos, Malwina$$b28
000276324 7001_ $$aKruszewski, Marcin$$b29
000276324 7001_ $$aAbildgaard, Niels$$b30
000276324 7001_ $$aVerdejo, Francisco García$$b31
000276324 7001_ $$aSánchez Rovira, Pedro$$b32
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000276324 7001_ $$00009-0008-3445-1981$$aKadar, Katalin$$b34
000276324 7001_ $$aRazny, Małgorzata$$b35
000276324 7001_ $$aCozen, Wendy$$b36
000276324 7001_ $$aPelosini, Matteo$$b37
000276324 7001_ $$aJurado, Manuel$$b38
000276324 7001_ $$aBhatti, Parveen$$b39
000276324 7001_ $$aDudzinski, Marek$$b40
000276324 7001_ $$aDruzd-Sitek, Agnieszka$$b41
000276324 7001_ $$aOrciuolo, Enrico$$b42
000276324 7001_ $$00000-0003-4022-7341$$aLi, Yang$$b43
000276324 7001_ $$aNorman, Aaron D$$b44
000276324 7001_ $$00000-0002-0986-8936$$aZaucha, Jan Maciej$$b45
000276324 7001_ $$00000-0002-9639-7940$$aReis, Rui Manuel$$b46
000276324 7001_ $$00000-0002-8550-8908$$aMarkiewicz, Miroslaw$$b47
000276324 7001_ $$00000-0002-4741-7925$$aRodríguez Sevilla, Juan José$$b48
000276324 7001_ $$00000-0002-0127-2863$$aAndersen, Vibeke$$b49
000276324 7001_ $$aJamroziak, Krzysztof$$b50
000276324 7001_ $$0P:(DE-He78)19b0ec1cea271419d9fa8680e6ed6865$$aHemminki, Kari$$b51$$udkfz
000276324 7001_ $$aBerndt, Sonja I$$b52
000276324 7001_ $$aRajkumar, Vicent$$b53
000276324 7001_ $$00000-0001-6610-2008$$aMazur, Grzegorz$$b54
000276324 7001_ $$aKumar, Shaji K$$b55
000276324 7001_ $$00000-0003-4130-7167$$aLudovico, Paula$$b56
000276324 7001_ $$aNagler, Arnon$$b57
000276324 7001_ $$aChanock, Stephen J$$b58
000276324 7001_ $$aDumontet, Charles$$b59
000276324 7001_ $$aMachiela, Mitchell J$$b60
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