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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 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]
  1. aObtained from GeneCards® [103]; bSamples were obtained from postmortem human brains from alcoholics versus control.
  2. GWAS, genome-wide association study.