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Copy-number variation
Communications
Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status
  1. George J Burghel1,2,
  2. Unzela Khan1,
  3. Wei-Yu Lin3,
  4. William Whittaker4,
  5. Siddharth Banka1,5
  1. 1 Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Manchester, UK
  2. 2 School of Health Science, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
  3. 3 Northern Institute for Cancer Research, Medical School, Newcastle University, Newcastle upon Tyne, Tyne, UK
  4. 4 Division of Population Health, Health Services Research & Primary Care, University of Manchester, Manchester, UK
  5. 5 Division of Evolution and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
  1. Correspondence to Dr Siddharth Banka, Department of Genetic Medicine, University of Manchester, Manchester M13 9WL, UK; Siddharth.Banka{at}manchester.ac.uk

Abstract

Socioeconomic status (SES) is a major determinant of health. We studied the Index of Multiple Deprivation Rank of 473 families with individuals with pathogenic autosomal copy number variants (CNVs) and known inheritance status. The IMDR distribution of families with pathogenic CNVs was significantly different from the general population. Families with inherited CNVs were significantly more likely to be living in areas of higher deprivation when compared with families that had individuals with de novo CNVs. These results provide unique insights into biological determinants of SES. As CNVs are relatively frequent in the general population, these results have important medical and policy consequences.

  • CNV
  • socioeconomic status

http://dx.doi.org/10.1136/jmedgenet-2019-106292

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    Footnotes

    • Contributors SB conceived the project. SB and GJB designed the study and wrote the manuscript. GJB and UK collected and analysed the CNV data. W-YL and WW did the statistical analysis.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Not required.

    • Provenance and peer review Not commissioned; externally peer reviewed.