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1. Loss of Y in regulatory T lymphocytes in the tumor micro-environment of primary colorectal cancers and liver metastases

Author

Wójcik, Magdalena, Juhas, Ulana, Mohammadi, Elyas, Mattisson, Jonas, Drężek-Chyła, Kinga, Rychlicka-Buniowska, Edyta, Bruhn-Olszewska, Bożena, Davies, Hanna, Chojnowska, Katarzyna, Olszewski, Paweł, Bieńkowski, Michał, Jankowski, Michał, Rostkowska, Olga, Hellmann, Andrzej, Pęksa, Rafał, Kowalski, Jacek, Zdrenka, Marek, Kobiela, Jarek, Zegarski, Wojciech, Biernat, Wojciech, Szylberg, Łukasz, Remiszewski, Piotr, Mieczkowski, Jakub, Filipowicz, Natalia, and Dumanski, Jan P.

Published
2024
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2. Loss of chromosome Y in regulatory T cells

Author

Mattisson, Jonas, Halvardson, Jonatan, Davies, Hanna, Bruhn-Olszewska, Bożena, Olszewski, Paweł, Danielsson, Marcus, Bjurling, Josefin, Lindberg, Amanda, Zaghlool, Ammar, Rychlicka-Buniowska, Edyta, Dumanski, Jan P., and Forsberg, Lars A.

Published
2024
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3. Loss of Y in leukocytes as a risk factor for critical COVID-19 in men

Author

Bruhn-Olszewska, Bożena, Davies, Hanna, Sarkisyan, Daniil, Juhas, Ulana, Rychlicka-Buniowska, Edyta, Wójcik, Magdalena, Horbacz, Monika, Jąkalski, Marcin, Olszewski, Paweł, Westholm, Jakub O., Smialowska, Agata, Wierzba, Karol, Torinsson Naluai, Åsa, Jern, Niklas, Andersson, Lars-Magnus, Järhult, Josef D., Filipowicz, Natalia, Tiensuu Janson, Eva, Rubertsson, Sten, Lipcsey, Miklós, Gisslén, Magnus, Hultström, Michael, Frithiof, Robert, and Dumanski, Jan P.

Published
2022
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5. Immune cells lacking Y chromosome show dysregulation of autosomal gene expression

Author

Dumanski, Jan P., Halvardson, Jonatan, Davies, Hanna, Rychlicka-Buniowska, Edyta, Mattisson, Jonas, Moghadam, Behrooz Torabi, Nagy, Noemi, Węglarczyk, Kazimierz, Bukowska-Strakova, Karolina, Danielsson, Marcus, Olszewski, Paweł, Piotrowski, Arkadiusz, Oerton, Erin, Ambicka, Aleksandra, Przewoźnik, Marcin, Bełch, Łukasz, Grodzicki, Tomasz, Chłosta, Piotr L., Imreh, Stefan, Giedraitis, Vilmantas, Kilander, Lena, Nordlund, Jessica, Ameur, Adam, Gyllensten, Ulf, Johansson, Åsa, Józkowicz, Alicja, Siedlar, Maciej, Klich-Rączka, Alicja, Jaszczyński, Janusz, Enroth, Stefan, Baran, Jarosław, Ingelsson, Martin, Perry, John R. B., Ryś, Janusz, and Forsberg, Lars A.

Published
2021
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6. Mosaic loss of chromosome Y in leukocytes matters

Author

Forsberg, Lars A., Halvardson, Jonatan, Rychlicka-Buniowska, Edyta, Danielsson, Marcus, Moghadam, Behrooz Torabi, Mattisson, Jonas, Rasi, Chiara, Davies, Hanna, Lind, Lars, Giedraitis, Vilmantas, Lannfelt, Lars, Kilander, Lena, Ingelsson, Martin, and Dumanski, Jan P.

Published
2019
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7. Loss of chromosome Y in regulatory T cells

Author

Mattisson, Jonas, primary, Halvardson, Jonatan, additional, Davies, Hanna, additional, Bruhn-Olszewska, Bożena, additional, Olszewski, Paweł, additional, Danielsson, Marcus, additional, Bjurling, Josefin, additional, Lindberg, Amanda, additional, Zaghlool, Ammar, additional, Rychlicka-Buniowska, Edyta, additional, Dumanski, Jan P., additional, and Forsberg, Lars A., additional

Published
2023
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8. Loss of Y is associated with multi-omic changes in immune cells from Alzheimer’s disease patients

Author

Jąkalski, Marcin, primary, Rychlicka-Buniowska, Edyta, additional, Davies, Hanna, additional, Sarkisyan, Daniil, additional, Siedlar, Maciej, additional, Baran, Jaroslaw, additional, Węglarczyk, Kazimierz, additional, Jaszczynski, Janusz, additional, Ryś, Janusz, additional, Gedraitis, Vilmantas, additional, Klich-Rączka, Alicja, additional, Kilander, Lena, additional, Ingelsson, Martin, additional, Dumanski, Jan P., additional, and Mieczkowski, Jakub, additional

Published
2023
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9. Additional file 1 of Loss of Y in leukocytes as a risk factor for critical COVID-19 in men

Author

Bruhn-Olszewska, Bożena, Davies, Hanna, Sarkisyan, Daniil, Juhas, Ulana, Rychlicka-Buniowska, Edyta, Wójcik, Magdalena, Horbacz, Monika, Jąkalski, Marcin, Olszewski, Paweł, Westholm, Jakub O., Smialowska, Agata, Wierzba, Karol, Torinsson Naluai, Åsa, Jern, Niklas, Andersson, Lars-Magnus, Järhult, Josef D., Filipowicz, Natalia, Tiensuu Janson, Eva, Rubertsson, Sten, Lipcsey, Miklós, Gisslén, Magnus, Hultström, Michael, Frithiof, Robert, and Dumanski, Jan P.

Abstract

Additional file 1: Fig. S1. The proportion of selected populations of PBMCs in critical COVID-19 patients. Fig. S2. Schematic presentation of the overall study design. Fig. S3. Comparison of %LOY across five cell populations for patients during ICU treatment.

Published
2023
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10. Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition

Author

Filipowicz, Natalia, Drezek, Kinga, Horbacz, Monika, Wojdak, Agata, Szymanowski, Jakub, Rychlicka-Buniowska, Edyta, Juhas, Ulana, Duzowska, Katarzyna, Nowikiewicz, Tomasz, Stankowska, Wiktoria, Chojnowska, Katarzyna, Andreou, Maria, Lawrynowicz, Urszula, Wojcik, Magdalena, Davies, Hanna, Srutek, Ewa, Bienkowski, Michal, Milian-Ciesielska, Katarzyna, Zdrenka, Marek, Ambicka, Aleksandra, Przewoznik, Marcin, Harazin-Lechowska, Agnieszka, Adamczyk, Agnieszka, Kowalski, Jacek, Bala, Dariusz, Wisniewski, Dorian, Tkaczynski, Karol, Kamecki, Krzysztof, Drzewiecka, Marta, Wronski, Pawel, Siekiera, Jerzy, Ratnicka, Izabela, Jankau, Jerzy, Wierzba, Karol, Skokowski, Jaroslaw, Polom, Karol, Przydacz, Mikolaj, Belch, Lukasz, Chlosta, Piotr, Matuszewski, Marcin, Okon, Krzysztof, Rostkowska, Olga, Hellmann, Andrzej, Sasim, Karol, Remiszewski, Piotr, Sierzega, Marek, Hac, Stanislaw, Kobiela, Jaroslaw, Kaska, Lukasz, Jankowski, Michal, Hodorowicz-Zaniewska, Diana, Jaszczynski, Janusz, Zegarski, Wojciech, Makarewicz, Wojciech, Peksa, Rafal, Szpor, Joanna, Rys, Janusz, Szylberg, Lukasz, Piotrowski, Arkadiusz, Dumanski, Jan P., Filipowicz, Natalia, Drezek, Kinga, Horbacz, Monika, Wojdak, Agata, Szymanowski, Jakub, Rychlicka-Buniowska, Edyta, Juhas, Ulana, Duzowska, Katarzyna, Nowikiewicz, Tomasz, Stankowska, Wiktoria, Chojnowska, Katarzyna, Andreou, Maria, Lawrynowicz, Urszula, Wojcik, Magdalena, Davies, Hanna, Srutek, Ewa, Bienkowski, Michal, Milian-Ciesielska, Katarzyna, Zdrenka, Marek, Ambicka, Aleksandra, Przewoznik, Marcin, Harazin-Lechowska, Agnieszka, Adamczyk, Agnieszka, Kowalski, Jacek, Bala, Dariusz, Wisniewski, Dorian, Tkaczynski, Karol, Kamecki, Krzysztof, Drzewiecka, Marta, Wronski, Pawel, Siekiera, Jerzy, Ratnicka, Izabela, Jankau, Jerzy, Wierzba, Karol, Skokowski, Jaroslaw, Polom, Karol, Przydacz, Mikolaj, Belch, Lukasz, Chlosta, Piotr, Matuszewski, Marcin, Okon, Krzysztof, Rostkowska, Olga, Hellmann, Andrzej, Sasim, Karol, Remiszewski, Piotr, Sierzega, Marek, Hac, Stanislaw, Kobiela, Jaroslaw, Kaska, Lukasz, Jankowski, Michal, Hodorowicz-Zaniewska, Diana, Jaszczynski, Janusz, Zegarski, Wojciech, Makarewicz, Wojciech, Peksa, Rafal, Szpor, Joanna, Rys, Janusz, Szylberg, Lukasz, Piotrowski, Arkadiusz, and Dumanski, Jan P.

Abstract

The progress in translational cancer research relies on access to well-characterized samples from a representative number of patients and controls. The rationale behind our biobanking are explorations of post-zygotic pathogenic gene variants, especially in non-tumoral tissue, which might predispose to cancers. The targeted diagnoses are carcinomas of the breast (via mastectomy or breast conserving surgery), colon and rectum, prostate, and urinary bladder (via cystectomy or transurethral resection), exocrine pancreatic carcinoma as well as metastases of colorectal cancer to the liver. The choice was based on the high incidence of these cancers and/or frequent fatal outcome. We also collect age-matched normal controls. Our still ongoing collection originates from five clinical centers and after nearly 2-year cooperation reached 1711 patients and controls, yielding a total of 23226 independent samples, with an average of 74 donors and 1010 samples collected per month. The predominant diagnosis is breast carcinoma, with 933 donors, followed by colorectal carcinoma (383 donors), prostate carcinoma (221 donors), bladder carcinoma (81 donors), exocrine pancreatic carcinoma (15 donors) and metachronous colorectal cancer metastases to liver (14 donors). Forty percent of the total sample count originates from macroscopically healthy cancer-neighboring tissue, while contribution from tumors is 12%, which adds to the uniqueness of our collection for cancer predisposition studies. Moreover, we developed two program packages, enabling registration of patients, clinical data and samples at the participating hospitals as well as the central system of sample/data management at coordinating center. The approach used by us may serve as a model for dispersed biobanking from multiple satellite hospitals. Our biobanking resource ought to stimulate research into genetic mechanisms underlying the development of common cancers. It will allow all available "-omics" approaches on DNA-, RNA

Published
2022
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11. Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition

Author

Filipowicz, Natalia, primary, Drężek, Kinga, additional, Horbacz, Monika, additional, Wojdak, Agata, additional, Szymanowski, Jakub, additional, Rychlicka-Buniowska, Edyta, additional, Juhas, Ulana, additional, Duzowska, Katarzyna, additional, Nowikiewicz, Tomasz, additional, Stańkowska, Wiktoria, additional, Chojnowska, Katarzyna, additional, Andreou, Maria, additional, Ławrynowicz, Urszula, additional, Wójcik, Magdalena, additional, Davies, Hanna, additional, Śrutek, Ewa, additional, Bieńkowski, Michał, additional, Milian-Ciesielska, Katarzyna, additional, Zdrenka, Marek, additional, Ambicka, Aleksandra, additional, Przewoźnik, Marcin, additional, Harazin-Lechowska, Agnieszka, additional, Adamczyk, Agnieszka, additional, Kowalski, Jacek, additional, Bała, Dariusz, additional, Wiśniewski, Dorian, additional, Tkaczyński, Karol, additional, Kamecki, Krzysztof, additional, Drzewiecka, Marta, additional, Wroński, Paweł, additional, Siekiera, Jerzy, additional, Ratnicka, Izabela, additional, Jankau, Jerzy, additional, Wierzba, Karol, additional, Skokowski, Jarosław, additional, Połom, Karol, additional, Przydacz, Mikołaj, additional, Bełch, Łukasz, additional, Chłosta, Piotr, additional, Matuszewski, Marcin, additional, Okoń, Krzysztof, additional, Rostkowska, Olga, additional, Hellmann, Andrzej, additional, Sasim, Karol, additional, Remiszewski, Piotr, additional, Sierżęga, Marek, additional, Hać, Stanisław, additional, Kobiela, Jarosław, additional, Kaska, Łukasz, additional, Jankowski, Michał, additional, Hodorowicz-Zaniewska, Diana, additional, Jaszczyński, Janusz, additional, Zegarski, Wojciech, additional, Makarewicz, Wojciech, additional, Pęksa, Rafał, additional, Szpor, Joanna, additional, Ryś, Janusz, additional, Szylberg, Łukasz, additional, Piotrowski, Arkadiusz, additional, and Dumanski, Jan P., additional

Published
2022
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12. Loss of Y in leukocytes as a risk factor for critical COVID-19 in men

Author

Bruhn-Olszewska, Bozena, primary, Davies, Hanna, additional, Sarkisyan, Daniil, additional, Juhas, Ulana, additional, Rychlicka-Buniowska, Edyta, additional, Wojcik, Magdalena, additional, Horbacz, Monika, additional, Jakalski, Marcin, additional, Olszewski, Pawel, additional, Westholm, Jakub O., additional, Smialowska, Agata, additional, Wierzba, Karol, additional, Torinsson Naluai, Asa, additional, Jern, Niklas, additional, Andersson, Lars-Magnus, additional, Jarhult, Josef, additional, Filipowicz, Natalia, additional, Tiensuu Janson, Eva, additional, Rubertsson, Sten, additional, Lipcsey, Miklos, additional, Gisslen, Magnus, additional, Hultstrom, Michael, additional, Frithiof, Robert, additional, and Dumanski, Jan P, additional

Published
2022
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13. Loss of Y and clonal hematopoiesis in blood—two sides of the same coin?

Author

Ljungström, Viktor, primary, Mattisson, Jonas, additional, Halvardson, Jonatan, additional, Pandzic, Tatjana, additional, Davies, Hanna, additional, Rychlicka-Buniowska, Edyta, additional, Danielsson, Marcus, additional, Lacaze, Paul, additional, Cavelier, Lucia, additional, Dumanski, Jan P., additional, Baliakas, Panagiotis, additional, and Forsberg, Lars A., additional

Published
2021
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14. Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition

Author

Filipowicz, Natalia, primary, Horbacz, Monika, additional, Drezek, Kinga, additional, Wojdak, Agata, additional, Szymanowski, Jakub, additional, Rychlicka-Buniowska, Edyta, additional, Juhas, Ulana, additional, Duzowska, Katarzyna, additional, Nowikiewicz, Tomasz, additional, Stankowska, Wiktoria, additional, Chojnowska, Katarzyna, additional, Andreou, Maria, additional, Lawrynowicz, Urszula, additional, Wojcik, Magdalena, additional, Davies, Hanna, additional, Srutek, Ewa, additional, Bienkowski, Michal, additional, Milian-Ciesielska, Katarzyna, additional, Zdrenka, Marek, additional, Ambicka, Aleksandra, additional, Przewoznik, Marcin, additional, Harazin-Lechowska, Agnieszka, additional, Adamczyk, Agnieszka, additional, Kowalski, Jacek, additional, Bala, Dariusz, additional, Wisniewski, Dorian, additional, Tkaczynski, Karol, additional, Kamecki, Krzysztof, additional, Drzewiecka, Marta, additional, Wronski, Pawel, additional, Siekiera, Jerzy, additional, Ratnicka, Izabela, additional, Jankau, Jerzy, additional, Wierzba, Karol, additional, Skokowski, Jaroslaw, additional, Polom, Karol, additional, Przydacz, Mikolaj, additional, Belch, Lukasz, additional, Chlosta, Piotr, additional, Matuszewski, Marcin, additional, Okon, Krzysztof, additional, Rostkowska, Olga, additional, Hellmann, Andrzej, additional, Sasim, Karol, additional, Remiszewski, Piotr, additional, Sierzega, Marek, additional, Hac, Stanislaw, additional, Kobiela, Jaroslaw, additional, Kaska, Lukasz, additional, Jankowski, Michal, additional, Hodorowicz-Zaniewska, Diana, additional, Jaszczynski, Janusz, additional, Zegarski, Wojciech, additional, Makarewicz, Wojciech, additional, Peksa, Rafal, additional, Szpor, Joanna, additional, Rys, Janusz, additional, Szylberg, Lukasz, additional, Piotrowski, Arkadiusz, additional, and Dumanski, Jan P., additional

Published
2021
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15. Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals

Author

Danielsson, Marcus, Halvardson, Jonatan, Davies, Hanna, Moghadam, Behrooz Torabi, Mattisson, Jonas, Rychlicka-Buniowska, Edyta, Jaszczyński, Janusz, Heintz, Julia, Lannfelt, Lars, Giedraitis, Vilmantas, Ingelsson, Martin, Dumanski, Jan P., Forsberg, Lars A., Danielsson, Marcus, Halvardson, Jonatan, Davies, Hanna, Moghadam, Behrooz Torabi, Mattisson, Jonas, Rychlicka-Buniowska, Edyta, Jaszczyński, Janusz, Heintz, Julia, Lannfelt, Lars, Giedraitis, Vilmantas, Ingelsson, Martin, Dumanski, Jan P., and Forsberg, Lars A.

Abstract

Mosaic loss of chromosome Y (LOY) is the most common somatic genetic aberration and is associated with increased risk for all-cause mortality, various forms of cancer and Alzheimer's disease, as well as other common human diseases. By tracking LOY frequencies in subjects from which blood samples have been serially collected up to five times during up to 22 years, we observed a pronounced intra-individual variation of changes in the frequency of LOY within individual men over time. We observed that in some individuals the frequency of LOY in blood clearly progressed over time and that in other men, the frequency was constant or showed other types of longitudinal development. The predominant method used for estimating LOY is calculation of the median Log R Ratio of probes located in the male specific part of chromosome Y (mLRRY) from intensity data generated by SNP-arrays, which is difficult to interpret due to its logarithmic and inversed scale. We present here a formula to transform mLRRY-values to percentage of LOY that is a more comprehensible unit. The formula was derived using measurements of LOY from matched samples analysed using SNP-array, whole genome sequencing and a new AMELX/AMELY-based assay for droplet digital PCR. The methods described could be applied for analyses of the vast amount of SNP-array data already generated in the scientific community, allowing further discoveries of LOY associated diseases and outcomes., These authors contributed equally: Jan P. Dumanski, Lars A. Forsberg

Published
2020
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17. Genetic predisposition to mosaic Y chromosome loss in blood

Author

Thompson, Deborah J, Genovese, Giulio, Halvardson, Jonatan, Ulirsch, Jacob C, Wright, Daniel J, Terao, Chikashi, Davidsson, Olafur B, Day, Felix R, Sulem, Patrick, Jiang, Yunxuan, Danielsson, Marcus, Davies, Hanna, Dennis, Joe, Dunlop, Malcolm G, Easton, Douglas F, Fisher, Victoria A, Zink, Florian, Houlston, Richard S, Ingelsson, Martin, Kar, Siddhartha, Kerrison, Nicola D, Kinnersley, Ben, Kristjansson, Ragnar P, Law, Philip J, Li, Rong, Loveday, Chey, Mattisson, Jonas, McCarroll, Steven A, Murakami, Yoshinori, Murray, Anna, Olszewski, Pawel, Rychlicka-Buniowska, Edyta, Scott, Robert A, Thorsteinsdottir, Unnur, Tomlinson, Ian, Moghadam, Behrooz Torabi, Turnbull, Clare, Wareham, Nicholas J, Gudbjartsson, Daniel F, International Lung Cancer Consortium (INTEGRAL-ILCCO), Breast Cancer Association Consortium, Consortium Of Investigators Of Modifiers Of BRCA1/2, Endometrial Cancer Association Consortium, Ovarian Cancer Association Consortium, Prostate Cancer Association Group To Investigate Cancer Associated Alterations In The Genome (PRACTICAL) Consortium, Kidney Cancer GWAS Meta-Analysis Project, EQTLGen Consortium, Biobank-Based Integrative Omics Study (BIOS) Consortium, 23andMe Research Team, Kamatani, Yoichiro, Hoffmann, Eva R, Jackson, Steve P, Stefansson, Kari, Auton, Adam, Ong, Ken K, Machiela, Mitchell J, Loh, Po-Ru, Dumanski, Jan P, Chanock, Stephen J, Forsberg, Lars A, Perry, John RB, Thompson, Deborah [0000-0003-1465-5799], Wright, Daniel [0000-0003-3983-2093], Day, Felix [0000-0003-3789-7651], Dennis, Joe [0000-0003-4591-1214], Easton, Douglas [0000-0003-2444-3247], Wareham, Nicholas [0000-0003-1422-2993], Jackson, Stephen [0000-0001-9317-7937], Ong, Kenneth [0000-0003-4689-7530], Perry, John [0000-0001-6483-3771], and Apollo - University of Cambridge Repository

Subjects
Adult, Genetic Markers, Male, 0303 health sciences, Chromosomes, Human, Y, Mosaicism, Computational Biology, Middle Aged, Genomic Instability, United Kingdom, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Neoplasms, Databases, Genetic, Leukocytes, Humans, Female, Genetic Predisposition to Disease, Chromosome Deletion, 030304 developmental biology, Aged
Abstract

Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism1-5, yet our knowledge of the causes and consequences of this is limited. Here, using a computational approach, we estimate that 20% of the male population represented in the UK Biobank study (n = 205,011) has detectable LOY. We identify 156 autosomal genetic determinants of LOY, which we replicate in 757,114 men of European and Japanese ancestry. These loci highlight genes that are involved in cell-cycle regulation and cancer susceptibility, as well as somatic drivers of tumour growth and targets of cancer therapy. We demonstrate that genetic susceptibility to LOY is associated with non-haematological effects on health in both men and women, which supports the hypothesis that clonal haematopoiesis is a biomarker of genomic instability in other tissues. Single-cell RNA sequencing identifies dysregulated expression of autosomal genes in leukocytes with LOY and provides insights into why clonal expansion of these cells may occur. Collectively, these data highlight the value of studying clonal mosaicism to uncover fundamental mechanisms that underlie cancer and other ageing-related diseases.

Published
2019
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18. Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals

Author

Danielsson, Marcus, Halvardson, Jonatan, Davies, Hanna, Torabi Moghadam, Behrooz, Mattisson, Jonas, Rychlicka-Buniowska, Edyta, Jaszczyński, Janusz, Heintz, Julia, Lannfelt, Lars, Giedraitis, Vilmantas, Ingelsson, Martin, Dumanski, Jan P., and Forsberg, Lars A.

Subjects
Male, Aging, Blood Cells, Chromosomes, Human, Y, Polymorphism, Genetic, Mosaicism, Article, Correspondence, Genetics, Humans, Chromosome Deletion, Genetic techniques, Medical Genetics, Biomarkers, Medicinsk genetik
Abstract

Mosaic loss of chromosome Y (LOY) is the most common somatic genetic aberration and is associated with increased risk for all-cause mortality, various forms of cancer and Alzheimer's disease, as well as other common human diseases. By tracking LOY frequencies in subjects from which blood samples have been serially collected up to five times during up to 22 years, we observed a pronounced intra-individual variation of changes in the frequency of LOY within individual men over time. We observed that in some individuals the frequency of LOY in blood clearly progressed over time and that in other men, the frequency was constant or showed other types of longitudinal development. The predominant method used for estimating LOY is calculation of the median Log R Ratio of probes located in the male specific part of chromosome Y (mLRRY) from intensity data generated by SNP-arrays, which is difficult to interpret due to its logarithmic and inversed scale. We present here a formula to transform mLRRY-values to percentage of LOY that is a more comprehensible unit. The formula was derived using measurements of LOY from matched samples analysed using SNP-array, whole genome sequencing and a new AMELX/AMELY-based assay for droplet digital PCR. The methods described could be applied for analyses of the vast amount of SNP-array data already generated in the scientific community, allowing further discoveries of LOY associated diseases and outcomes. These authors contributed equally: Jan P. Dumanski, Lars A. Forsberg

Published
2019

19. Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

Author

Thompson, Deborah, Genovese, Giulio, Halvardson, Jonatan, Ulirsch, Jacob, Wright, Daniel, Terao, Chikashi, Davidsson, Olafur, Day, Felix, Sulem, Patrick, Jiang, Yunxuan, Danielsson, Marcus, Davies, Hanna, Dennis, Joe, Dunlop, Malcolm, Easton, Douglas, Fisher, Victoria, Zink, Florian, Houlston, Richard, Ingelsson, Martin, Kar, Siddhartha, Kerrison, Nicola, Kristjansson, Ragnar, Li, Rong, Loveday, Chey, Mattisson, Jonas, McCarroll, Steven, Murakami, Yoshinori, Murray, Anna, Olszewski, Pawel, Rychlicka-Buniowska, Edyta, Scott, Robert, Thorsteinsdottir, Unnur, Tomlinson, Ian, Torabi Moghadam, Behrooz, Turnbull, Clare, Wareham, Nicholas, Gudbjartsson, Daniel, Kamatani, Yoichiro, Finucane, Hilary, Hoffmann, Eva, Jackson, Steve, Stefansson, Kari, Auton, Adam, Ong, Ken, Machiela, Mitchell, Loh, Po-Ru, Dumanski, Jan, Chanock, Stephen, Forsberg, Lars, and Perry, John

Subjects
0303 health sciences, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, 3. Good health, 030304 developmental biology
Abstract

Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism, yet our knowledge of the causes and consequences of this is limited. Using a newly developed approach, we estimate that 20% of the UK Biobank male population (N=205,011) has detectable LOY. We identify 156 autosomal genetic determinants of LOY, which we replicate in 757,114 men of European and Japanese ancestry. These loci highlight genes involved in cell-cycle regulation, cancer susceptibility, somatic drivers of tumour growth and cancer therapy targets. Genetic susceptibility to LOY is associated with non-haematological health outcomes in both men and women, supporting the hypothesis that clonal haematopoiesis is a biomarker of genome instability in other tissues. Single-cell RNA sequencing identifies dysregulated autosomal gene expression in leukocytes with LOY, providing insights into how LOY may confer cellular growth advantage. Collectively, these data highlight the utility of studying clonal mosaicism to uncover fundamental mechanisms underlying cancer and other ageing-related diseases.

Published
2019

20. Immune cells lacking Y chromosome have widespread dysregulation of autosomal genes

Author

Dumanski, Jan P., primary, Halvardson, Jonatan, additional, Davies, Hanna, additional, Rychlicka-Buniowska, Edyta, additional, Mattisson, Jonas, additional, Moghadam, Behrooz Torabi, additional, Nagy, Noemi, additional, Węglarczyk, Kazimierz, additional, Bukowska-Strakova, Karolina, additional, Danielsson, Marcus, additional, Olszewski, Paweł, additional, Piotrowski, Arkadiusz, additional, Oerton, Erin, additional, Ambicka, Aleksandra, additional, Przewoźnik, Marcin, additional, Bełch, Łukasz, additional, Grodzicki, Tomasz, additional, Chłosta, Piotr L., additional, Imreh, Stefan, additional, Giedraitis, Vilmantas, additional, Kilander, Lena, additional, Nordlund, Jessica, additional, Ameur, Adam, additional, Gyllensten, Ulf, additional, Johansson, Åsa, additional, Józkowicz, Alicja, additional, Siedlar, Maciej, additional, Klich-Rączka, Alicja, additional, Jaszczyński, Janusz, additional, Enroth, Stefan, additional, Baran, Jarosław, additional, Ingelsson, Martin, additional, Perry, John R. B., additional, Ryś, Janusz, additional, and Forsberg, Lars A., additional

Published
2019
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21. Intra-individual changes in the frequency of mosaic loss of chromosome Y over time estimated with a new method

Author

Danielsson, Marcus, primary, Halvardson, Jonatan, additional, Davies, Hanna, additional, Moghadam, Behrooz Torabi, additional, Mattisson, Jonas, additional, Rychlicka-Buniowska, Edyta, additional, Jaszczyński, Janusz, additional, Heintz, Julia, additional, Lannfelt, Lars, additional, Giedraitis, Vilmantas, additional, Ingelsson, Martin, additional, Dumanski, Jan P., additional, and Forsberg, Lars A., additional

Published
2019
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22. THE LEVEL OF MYELOID DERIVED-SUPPRESSOR CELLS IN PERIPHERAL BLOOD OF PATIENTS WITH PROSTATE CANCER AFTER VARIOUS TYPES OF THERAPY.

Author

SIEMINSKA, IZABELA, RYCHLICKA-BUNIOWSKA, EDYTA, JASZCZYNSKI, JANUSZ, PALACZYNSKI, MIKOLAJ, BUKOWSKA-STRAKOVA, KAROLINA, RYS, JANUSZ, DUMANSKI, JAN, SIEDLAR, MACIEJ, and BARAN, JAROSLAW

Abstract

Prostate cancer is one of the most frequent cancers in men. Although several treatment options exist, their clinical effectiveness is still not satisfactory. One the possible reason of such situation might be the presence of myeloid-derived suppressor cells (MDSC) and their pro-tumorigenic activity. MDSC possess immunosuppressive ability and in many studies were shown to support tumor development and progression. In this study we addressed the question whether commonly used therapies of prostate cancer affect the level of MDSC populations in the patients’ blood. We compared the level of granulocytic (Gr-MDSC), monocytic (Mo-MDSC) and early stage MDSC (eMDSC) in the blood of patients at different clinical stage and different tumor grading scores, who underwent either surgery or hormonal therapy alone or were given a combined treatment, including e.g. radiotherapy. The obtained results showed that the level of Gr-MDSC was significantly lower in all treated patients comparing to untreated group. On the other hand, surgery or hormonal therapy alone did not affect the level of Mo-MDSC. These results were independent of the PSA level, the tumor grading and clinical stage of the patients. In conclusion, we suggest that Mo-MDSC should be considered as a potential therapy target in the course of prostate cancer treatment to enhance its anti-tumor effectiveness. [ABSTRACT FROM AUTHOR]

Published
2020
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23. Mosaic loss of chromosome Y in leukocytes matters

Author

Forsberg, Lars A., primary, Halvardson, Jonatan, additional, Rychlicka-Buniowska, Edyta, additional, Danielsson, Marcus, additional, Moghadam, Behrooz Torabi, additional, Mattisson, Jonas, additional, Rasi, Chiara, additional, Davies, Hanna, additional, Lind, Lars, additional, Giedraitis, Vilmantas, additional, Lannfelt, Lars, additional, Kilander, Lena, additional, Ingelsson, Martin, additional, and Dumanski, Jan P., additional

Published
2018
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24. Genetic predisposition to mosaic Y chromosome loss in blood

Author

Thompson, Deborah J., Genovese, Giulio, Halvardson, Jonatan, Ulirsch, Jacob C., Wright, Daniel J., Terao, Chikashi, Davidsson, Olafur B., Day, Felix R., Sulem, Patrick, Jiang, Yunxuan, Danielsson, Marcus, Davies, Hanna, Dennis, Joe, Dunlop, Malcolm G., Easton, Douglas F., Fisher, Victoria A., Zink, Florian, Houlston, Richard S., Ingelsson, Martin, Kar, Siddhartha, Kerrison, Nicola D., Kinnersley, Ben, Kristjansson, Ragnar P., Law, Philip J., Li, Rong, Loveday, Chey, Mattisson, Jonas, McCarroll, Steven A., Murakami, Yoshinori, Murray, Anna, Olszewski, Pawel, Rychlicka-Buniowska, Edyta, Scott, Robert A., Thorsteinsdottir, Unnur, Tomlinson, Ian, Moghadam, Behrooz Torabi, Turnbull, Clare, Wareham, Nicholas J., Gudbjartsson, Daniel F., Kamatani, Yoichiro, Hoffmann, Eva R., Jackson, Steve P., Stefansson, Kari, Auton, Adam, Ong, Ken K., Machiela, Mitchell J., Loh, Po-Ru, Dumanski, Jan P., Chanock, Stephen J., Forsberg, Lars A., and Perry, John R. B.

Abstract

Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism1–5, yet our knowledge of the causes and consequences of this is limited. Here, using a computational approach, we estimate that 20% of the male population represented in the UK Biobank study (n= 205,011) has detectable LOY. We identify 156 autosomal genetic determinants of LOY, which we replicate in 757,114 men of European and Japanese ancestry. These loci highlight genes that are involved in cell-cycle regulation and cancer susceptibility, as well as somatic drivers of tumour growth and targets of cancer therapy. We demonstrate that genetic susceptibility to LOY is associated with non-haematological effects on health in both men and women, which supports the hypothesis that clonal haematopoiesis is a biomarker of genomic instability in other tissues. Single-cell RNA sequencing identifies dysregulated expression of autosomal genes in leukocytes with LOY and provides insights into why clonal expansion of these cells may occur. Collectively, these data highlight the value of studying clonal mosaicism to uncover fundamental mechanisms that underlie cancer and other ageing-related diseases.

Published
2019
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26. Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals.

Author

Danielsson M, Halvardson J, Davies H, Torabi Moghadam B, Mattisson J, Rychlicka-Buniowska E, Jaszczyński J, Heintz J, Lannfelt L, Giedraitis V, Ingelsson M, Dumanski JP, and Forsberg LA

Subjects
Aging blood, Blood Cells metabolism, Humans, Male, Aging genetics, Chromosome Deletion, Chromosomes, Human, Y genetics, Mosaicism, Polymorphism, Genetic
Abstract

Mosaic loss of chromosome Y (LOY) is the most common somatic genetic aberration and is associated with increased risk for all-cause mortality, various forms of cancer and Alzheimer's disease, as well as other common human diseases. By tracking LOY frequencies in subjects from which blood samples have been serially collected up to five times during up to 22 years, we observed a pronounced intra-individual variation of changes in the frequency of LOY within individual men over time. We observed that in some individuals the frequency of LOY in blood clearly progressed over time and that in other men, the frequency was constant or showed other types of longitudinal development. The predominant method used for estimating LOY is calculation of the median Log R Ratio of probes located in the male specific part of chromosome Y (mLRRY) from intensity data generated by SNP-arrays, which is difficult to interpret due to its logarithmic and inversed scale. We present here a formula to transform mLRRY-values to percentage of LOY that is a more comprehensible unit. The formula was derived using measurements of LOY from matched samples analysed using SNP-array, whole genome sequencing and a new AMELX/AMELY-based assay for droplet digital PCR. The methods described could be applied for analyses of the vast amount of SNP-array data already generated in the scientific community, allowing further discoveries of LOY associated diseases and outcomes.

Published
2020
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