Table 1

Candidate genes for alcohol-related phenotypes replicated in several GWAS and transcriptional profiling studies

Protein (gene symbol)

Gene functiona

Type of study

Phenotype(s) and reference(s)


Cadherin 13 (CDH13)

Calcium-dependent cell adhesion protein

GWAS

Alcohol dependence [27,28,31]; polysubstance abuse [29]

Rho GTPase activating protein 28 (ARHGAP28)

GTPase activator for the Rho-type GTPases

GWAS

Alcohol dependence [25,27]; alcohol consumption [23]

CUB and Sushi multiple domains 1 (CSMD1)

Potential suppressor of squamous cell carcinomas

GWAS

Alcohol dependence [25,27]; polysubstance abuse [29]

CUB and Sushi multiple domains 2 (CSMD2)

Potential suppressor of squamous cell carcinomas

GWAS

Alcohol dependence [25,27]; polysubstance abuse [29]

Catenin, delta 2 (CTNND2)

Transcriptional activator; may be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules

GWAS

Polysubstance abuse [29]; alcohol dependence [25]; alcohol consumption [23]

Kv channel interacting protein 1 (KCNIP1)

Modulates channel's density, inactivation kinetics, and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner

GWAS

Alcohol dependence [25,26]; alcohol consumption [23]

Neuronal PAS domain protein 3 (NPAS3)

Encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors; may play a role in neurogenesis

GWAS

Polysubstance abuse [29]; alcohol dependence [25]; alcohol consumption [23]

Protein tyrosine phosphatase, receptor type, D (PTPRD)

The protein is a member of the protein tyrosine phosphatase family, members of which regulate a variety of cellular processes

GWAS

Polysubstance abuse [29]; alcohol dependence [25]; alcohol consumption [23]

Usher syndrome 2A (USH2A)

The protein contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs; involved in hearing and vision

GWAS

Alcohol dependence [26,27,32]

Angiotensinogen (AGT)

Essential component of the renin-angiotensin system, a potent regulator of blood pressure, body fluid, and electrolyte homeostasis

Microarrayb

Frontal cortex [38,39]; prefrontal cortex [41]

Lysosomal-associated membrane protein 2 (LAMP2)

Member of a family of membrane glycoproteins; implicated in tumor cell metastasis

Microarrayb

Temporal cortex [40]; frontal cortex and nucleus accumbens [36]; frontal cortex [38]

Peripheral myelin protein 22 (PMP22)

Integral membrane protein that is a major component of myelin in the peripheral nervous system; might be involved in growth regulation, and in myelinization

Microarrayb

Prefrontal cortex [41]; frontal cortex and nucleus accumbens [36]

Selenoprotein P, plasma, 1 (SEPP1)

Might be responsible for some of the extracellular antioxidant defense properties of selenium or might be involved in the transport of selenium

Microarrayb

Frontal cortex [39]; temporal cortex [40]; prefrontal cortex [41]

Transferrin (TF)

Responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization

Microarrayb

Frontal cortex [38,39]; frontal, motor cortices [37]


aObtained from GeneCards® [103]; bSamples were obtained from postmortem human brains from alcoholics versus control.

GWAS, genome-wide association study.

Morozova et al. Genome Biology 2012 13:239   doi:10.1186/gb-2012-13-2-239