Variations in the human genome are present in many forms; including single nucleotide polymorphisms (SNPs), presence/ absence of transposable elements and structural copy number variations (CNVs) (insertions, deletions). Until recently SNPs were thought to be the dominant form of genetic variation, however several studies including (Estivill & Armengol, 2007) and (Sebat et al., 2004) have shown that CNVs account for a significant amount of the nucleotide sequence variation. They have been implicated as contributing factors to many neuropsychiatric and other diseases including autism (Pinto et al., 2010), schizophrenia (Cook & Scherer, 2008), late onset Alzheimer’s disease (Heinzen et al., 2009) and rheumatoid arthritis (Uddin, Sturge, Rahman, & Woods, 2011). However, given their increasing association as a potential biomarker for several prominent diseases; CNV’s effect on substance abuse, in particular alcohol use disorders (AUDs), remains largely understudied.
