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Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status

Lookup NU author(s): Dr Wei-Yu Lin


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© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.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.

Publication metadata

Author(s): Burghel GJ, Khan U, Lin W-Y, Whittaker W, Banka S

Publication type: Article

Publication status: Published

Journal: Journal of Medical Genetics

Year: 2020

Volume: 57

Issue: 1

Pages: 70-72

Print publication date: 13/12/2019

Online publication date: 23/09/2019

Acceptance date: 24/07/2019

ISSN (print): 0022-2593

ISSN (electronic): 1468-6244

Publisher: BMJ Publishing Group


DOI: 10.1136/jmedgenet-2019-106292

PubMed id: 31548214


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