PT  - JOURNAL ARTICLE
AU  - George J Burghel
AU  - Unzela Khan
AU  - Wei-Yu Lin
AU  - William Whittaker
AU  - Siddharth Banka
TI  - Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status
AID  - 10.1136/jmedgenet-2019-106292
DP  - 2019 Aug 22
TA  - Journal of Medical Genetics
PG  - jmedgenet-2019-106292
4099  - http://jmg.bmj.com/content/early/2019/08/21/jmedgenet-2019-106292.short
4100  - http://jmg.bmj.com/content/early/2019/08/21/jmedgenet-2019-106292.full
AB  - 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.