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Loss of chromosome Y (LOY) in blood cells is associated with increased risk for disease and mortality in aging men
Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.ORCID iD: 0000-0002-1701-755X
2017 (English)In: Human Genetics, ISSN 0340-6717, E-ISSN 1432-1203, Vol. 136, no 5, p. 657-663Article, review/survey (Refereed) Published
Abstract [en]

Recent discoveries have shown that harboring cells without the Y chromosome in the peripheral blood is associated with increased risk for all-cause mortality and disease such as different forms of cancer, Alzheimer’s disease,as well as other conditions in aging men. In the entire world, the life expectancy of men is shorter compared to women, a sex difference that has been known for centuries,but the underlying mechanism(s) are not well understood.As a male-specific genetic risk factor, an increased risk for pathology and mortality associated with mosaic loss of chromosome Y (LOY) in blood cells could help to explain that men on average live shorter lives compared to women.This review primarily focuses on observed associations between LOY in blood and various diseases in aging men.Other topics covered are known risk factors for LOY, methodsto detect LOY, and a discussion regarding mechanisms such as immunosurveillance, that could possibly explain how an acquired mutation in blood cells can be associated with disease processes in other organs.

Place, publisher, year, edition, pages
2017. Vol. 136, no 5, p. 657-663
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-320887DOI: 10.1007/s00439-017-1799-2ISI: 000400858700013PubMedID: 28424864OAI: oai:DiVA.org:uu-320887DiVA, id: diva2:1091364
Funder
EU, European Research CouncilStiftelsen Olle Engkvist ByggmästareAvailable from: 2017-04-26 Created: 2017-04-26 Last updated: 2018-01-13Bibliographically approved

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Forsberg, Lars A.

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