{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Liu A"],"funding":["NIEHS NIH HHS","NIMH NIH HHS"],"pubmed_abstract":["Mosaic loss of the X chromosome (mLOX) is the most commonly occurring clonal somatic alteration detected in the leukocytes of women, yet little is known about its genetic determinants or phenotypic consequences. To address this, we estimated mLOX in >900,000 women across eight biobanks, identifying 10% of women with detectable X loss in approximately 2% of their leukocytes. Out of 1,253 diseases examined, women with mLOX had an elevated risk of myeloid and lymphoid leukemias and pneumonia. Genetic analyses identified 49 common variants influencing mLOX, implicating genes with established roles in chromosomal missegregation, cancer predisposition, and autoimmune diseases. Complementary exome-sequence analyses identified rare missense variants in <i>FBXO10</i> which confer a two-fold increas"],"journal":["medRxiv : the preprint server for health sciences"],"pagination":["2023.01.28.23285140"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9915812"],"repository":["biostudies-literature"],"pubmed_title":["Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection."],"pmcid":["PMC9915812"],"funding_grant_id":["R01 MH104964","R01 MH123451","DP2 ES030554"],"pubmed_authors":["Huang WY","Daly MJ","Zekavat MM","Tuzov V","Terao C","Gardner EJ","Yu K","Zhao Y","Pyarajan S","Palotie A","Liu X","Song L","Vlasschaert C","Pirinen M","Natarajan P","Ollila HM","Perry JRB","Brown DW","Ghazal A","Chanock SJ","Loh PR","Magi R","Sankaran VG","Bick A","Machiela MJ","Sipila TP","Zhou W","Ganna A","Dennis J","Gorman B","Yang Z","Genovese G","Hudjashov G","Pajuste FD","McCarroll SA","Kentistou K","Liu A","Momozawa Y","Freedman N","Tukiainen T","Aavikko M"],"additional_accession":[]},"is_claimable":false,"name":"Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection.","description":"Mosaic loss of the X chromosome (mLOX) is the most commonly occurring clonal somatic alteration detected in the leukocytes of women, yet little is known about its genetic determinants or phenotypic consequences. To address this, we estimated mLOX in >900,000 women across eight biobanks, identifying 10% of women with detectable X loss in approximately 2% of their leukocytes. Out of 1,253 diseases examined, women with mLOX had an elevated risk of myeloid and lymphoid leukemias and pneumonia. Genetic analyses identified 49 common variants influencing mLOX, implicating genes with established roles in chromosomal missegregation, cancer predisposition, and autoimmune diseases. Complementary exome-sequence analyses identified rare missense variants in <i>FBXO10</i> which confer a two-fold increas","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2026-04-08T13:24:25.913Z","creation":"2026-04-08T02:58:47.898Z"},"accession":"S-EPMC9915812","cross_references":{"pubmed":["36778285"],"doi":["10.1101/2023.01.28.23285140"]}}