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A case-control genome wide association study of substance use disorder (SUD) identifies novel variants on chromosome 7p14.1 in patients from the United Arab Emirates (UAE)

Lookup NU author(s): Dr Holly FisherORCiD, Professor Heather Cordell

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Abstract

© 2018 Wiley Periodicals, Inc. Genome wide association studies (GWASs) have provided insights into the molecular basis of the disorder in different population. This study presents the first GWAS of substance use disorder (SUD) in patients from the United Arab Emirates (UAE). The aim was to identify genetic association(s) that may provide insights into the molecular basis of the disorder. The GWAS discovery cohort consisted of 512 (250 cases and 262 controls) male participants from the UAE. Controls with no prior history of SUD were available from the Emirates family registry. The replication cohort consisted of 520 (415 cases and 105 controls) Australian male Caucasian participants. The GWAS discovery samples were genotyped for 4.6 million single nucleotide polymorphism (SNP). The replication cohort was genotyped using TaqMan assay. The GWAS association analysis identified three potential SNPs rs118129027 (p-value = 6.24 × 10−8), rs74477937 (p-value = 8.56 × 10−8) and rs78707086 (p-value = 8.55 × 10−8) on ch7p14.1, that did not meet the GWAS significance threshold but were highly suggestive. In the replication cohort, the association of the three top SNPs did not reach statistical significance. In a meta-analysis of the discovery and the replication cohorts, there were no strengthen evidence for association of the three SNPs. The top identified rs118129027 overlaps with a regulatory factor (enhancer) region that targets three neighboring genes LOC105375237, LOC105375240, and YAE1D1. The YAE1D1, which represents a potential locus that is involved in regulating translation initiation pathway. Novel associations that require further confirmation were identified, suggesting a new insight to the genetic basis of SUD.

Publication metadata

Author(s): Alblooshi H, Al Safar H, Fisher HF, Cordell HJ, El Kashef A, Al Ghaferi H, Shawky M, Reece S, Hulse GK, Tay GK

Publication type: Article

Publication status: Published

Journal: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Year: 2019

Volume: 180

Issue: 1

Pages: 68-79

Print publication date: 01/01/2019

Online publication date: 16/12/2018

Acceptance date: 21/11/2018

ISSN (print): 1552-4841

ISSN (electronic): 1552-485X

Publisher: John Wiley & Sons, Inc.

URL: https://doi.org/10.1002/ajmg.b.32708

DOI: 10.1002/ajmg.b.32708

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