Table 1 Candidate genes for alcohol-related phenotypes replicated in several GWAS and transcriptional profiling studies
From: The genetic basis of alcoholism: multiple phenotypes, many genes, complex networks
Protein (gene symbol) | Gene functiona | Type of study | Phenotype(s) and reference(s) |
|---|---|---|---|
Cadherin 13 (CDH13) | Calcium-dependent cell adhesion protein | GWAS | |
Rho GTPase activating protein 28 (ARHGAP28) | GTPase activator for the Rho-type GTPases | GWAS | |
CUB and Sushi multiple domains 1 (CSMD1) | Potential suppressor of squamous cell carcinomas | GWAS | |
CUB and Sushi multiple domains 2 (CSMD2) | Potential suppressor of squamous cell carcinomas | GWAS | |
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 | |
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 | |
Angiotensinogen (AGT) | Essential component of the renin-angiotensin system, a potent regulator of blood pressure, body fluid, and electrolyte homeostasis | Microarrayb | |
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 |