Study Report

Reference	Jung, S. K., 2004 PMID: 15234472
Citation	Jung, S. K., M. S. Hong, et al. (2004). "Association between polymorphism in intron 1 of cocaine- and amphetamine-regulated transcript gene with alcoholism, but not with bipolar disorder and schizophrenia in Korean population." Neurosci Lett 365(1): 54-57.
Disease Type	Bipolar Disorder & Schizophrenia
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	The study included patients of alcoholism (100), bipolar disorder (76) and schizophrenia (169) from the Korean population. Healthy controls for bipolar disorder and schizophrenia consisted of 333 individuals.
SNP/Region/Marker Size	1 SNP
Predominant Ethnicity	Mongloid
Population	Korean
Gender	patients with bipolar disorder (43 males and 34 females), and schizophrenia (93 males and 76 females), and alcoholism (100 males). Control subjects consisted of 199 males for alcoholism, 333 (195 males and 138 females) for bipolar disorder, and 333 (195 males and 138 females) for schizophrenia.
Age Group	adults : BD patients: mean age=34.7 (SD=8.8) years; schizophrenic patients: mean age=42.6 (SD=9.9) years; alcoholic patients: mean age=46.0 (SD=9.2) years.

Sample Diagnosis	DSM-IV
Technique	PCR and genotyping
Statistical Method	The distribution of genotype and the frequency of allele were tested by a chi-square test. P values of less than 0.05 were considered statistically significant.
Result Summary	The restriction fragment length polymorphism (RFLP) using the AvaII restriction enzyme was designed to analyze the selected SNP. The distribution of GG, GA, and AA genotypes in the 333 controls was 50.2, 41.1, and 8.7%, respectively. The frequency of G and A alleles in the 333 controls was 70.7 and 29.3%, respectively. The distribution of genotype and allele frequencies of the AvaII polymorphism showed a significant difference between alcoholism and controls (P = 0.037 and P = 0.044). However, the AvaII polymorphism of the CART gene did not show association with bipolar disorder and schizophrenia. In conclusion, we report for the first time that the AvaII polymorphism (rs2239670) in intron 1 of the CART gene is associated with alcoholism in the Korean male population.