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Front. Genet. | doi: 10.3389/fgene.2019.00781

The challenges of chromosome Y analysis and the implications for chronic kidney disease.

  • 1Centre for Public Health, Faculty of Medicine, Health and Life Sciences, Queen's University Belfast, United Kingdom
  • 2Belfast City Hospital, United Kingdom

The role of chromosome Y in chronic kidney disease (CKD) remains unknown, as chromosome Y is typically excluded from genetic analysis in CKD. The complex, sex-specific presentation of CKD could be influenced by chromosome Y genetic variation, but there is limited published research available to confirm or reject this hypothesis. Although traditionally thought to be associated with male-specific disease, evidence linking chromosome Y genetic variation to common complex disorders highlights a potential gap in CKD research. Chromosome Y variation has been associated with cardiovascular disease, a condition closely linked to CKD and one with a very similar sexual dimorphism. Relatively few sources of genetic variation in chromosome Y have been examined in CKD. The association between chromosome Y aneuploidy and CKD has never been explored comprehensively, while analyses of microdeletions, copy number variation and single-nucleotide polymorphisms in CKD have been largely limited to the autosomes or chromosome X. In many studies, it is unclear whether the analyses excluded chromosome Y, or simply did not report negative results. Lack of imputation, poor cross-study comparability, and requirement for separate or additional analyses in comparison to autosomal chromosomes means that chromosome Y is under-investigated in the context of CKD. Limitations in genotyping arrays could be overcome through use of whole-chromosome sequencing of chromosome Y that may allow analysis of many different types of genetic variation across the chromosome to determine if chromosome Y genetic variation is associated with CKD.

Keywords: chromosome Y, Genotyping arrays, Imputation, Genome-wide association (GWA), Haplogroup, LOY, Microdeletion, variation, Chronic Kidney Disease

Received: 12 Apr 2019; Accepted: 24 Jul 2019.

Copyright: © 2019 Anderson, Garre, Chambers, Maxwell and McKnight. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Ms. Kerry Anderson, Centre for Public Health, Faculty of Medicine, Health and Life Sciences, Queen's University Belfast, Belfast, BT12 6BA, United Kingdom,