@article{9dac17fb814946d5b9b50325f533c2b0,
title = "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)",
abstract = " 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.",
keywords = "chromosome 7, genome wide association study (GWAS), substance use disorder (SUD), translation, UAE",
author = "Hiba Alblooshi and {Al Safar}, Habiba and Fisher, {Holly F.} and Cordell, {Heather J.} and {El Kashef}, Ahmed and {Al Ghaferi}, Hamad and Mansour Shawky and Stuart Reece and Hulse, {Gary K.} and Tay, {Guan K.}",
note = "Funding Information: information Al Jalila Foundation; Edith Cowan University; Khalifa UniversityThe authors acknowledge the support of staff at Center of Biotechnology at Khalifa University of Science and Technology in Abu Dhabi, UAE. The authors thank the nursing and clinical staff of the NRC for their assistance in recruiting substance use patients and research laboratory staff of the medical and health sciences division at Edith Cowan University in Western Australia for their assistance in retrieving the blood samples for the replication cohort. The authors would also like to thank the Australian Genome Research Facility (AGRF) for performing the genotyping service on the replication cohort at the Perth node. The authors also extend their thanks to the Al Jalila Foundation in the UAE for funding Alblooshi fellowship training program in computational and statistical genetics at the Institute of Genetic Medicine (IGM) in Newcastle, United Kingdom. Special thanks to Dr. Loubna Abdel Hadi for her assistance in generating the graphical illustration of the translation initiation pathway. In addition, the authors would like to acknowledge Dr. Wael Osman for his help in the meta-analysis. Funding Information: The authors acknowledge the support of staff at Center of Biotechnology at Khalifa University of Science and Technology in Abu Dhabi, UAE. The authors thank the nursing and clinical staff of the NRC for their assistance in recruiting substance use patients and research laboratory staff of the medical and health sciences division at Edith Cowan University in Western Australia for their assistance in retrieving the blood samples for the replication cohort. The authors would also like to thank the Australian Genome Research Facility (AGRF) for performing the genotyping service on the replication cohort at the Perth node. The authors also extend their thanks to the Al Jalila Foundation in the UAE for funding Alblooshi fellowship training program in computational and statistical genetics at the Institute of Genetic Medicine (IGM) in Newcastle, United Kingdom. Special thanks to Dr. Loubna Abdel Hadi for her assistance in generating the graphical illustration of the translation initiation pathway. In addition, the authors would like to acknowledge Dr. Wael Osman for his help in the meta-analysis. Publisher Copyright: {\textcopyright} 2018 Wiley Periodicals, Inc.",
year = "2019",
month = jan,
doi = "10.1002/ajmg.b.32708",
language = "British English",
volume = "180",
pages = "68--79",
journal = "American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics",
issn = "1552-4841",
publisher = "Wiley-Liss Inc.",
number = "1",
}
