title: 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.
abstract: Cocaine- and amphetamine-regulated transcript (CART) peptide is a novel neuropeptide involved in feeding, drug reward, and stress. We hypothesized that the polymorphism of CART gene might be related with susceptibility to neuropsychiatric diseases such as alcoholism, bipolar disorder, and schizophrenia. The polymorphism (rs2239670) in intron 1 was selected for study among other single nucleotide polymorphisms (SNPs) located at the area of CART gene, because it had not been tested until to date. 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. For alcoholism, both patient group and control subjects included only male. 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.
authors.affiliation: Department of Emergency Medicine, College of Medicine, Seoul National University, Seoul, South Korea.
authors.forename: Sung Koo
authors.initials: SK
authors.lastname: Jung
authors.forename: Mee-Suk
authors.initials: MS
authors.lastname: Hong
authors.forename: Gil-Joon
authors.initials: GJ
authors.lastname: Suh
authors.forename: Sheng-Yu
authors.initials: SY
authors.lastname: Jin
authors.forename: Hee Jae
authors.initials: HJ
authors.lastname: Lee
authors.forename: Bum Shik
authors.initials: BS
authors.lastname: Kim
authors.forename: Yun Jeong
authors.initials: YJ
authors.lastname: Lim
authors.forename: Mi Kyoung
authors.initials: MK
authors.lastname: Kim
authors.forename: Hun-Kuk
authors.initials: HK
authors.lastname: Park
authors.forename: Joo-Ho
authors.initials: JH
authors.lastname: Chung
authors.forename: Sung-Vin
authors.initials: SV
authors.lastname: Yim
mesh_terms: D000437:Alcoholism / Q000235:genetics*; D001714:Bipolar Disorder / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics*; D007723:Korea; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012559:Schizophrenia / Q000235:genetics*; D000098882:Cocaine- and Amphetamine-Regulated Transcript Protein
chemical_list: D009419:Nerve Tissue Proteins; D000098882:Cocaine- and Amphetamine-Regulated Transcript Protein; D015252:Deoxyribonucleases, Type II Site-Specific; C038308:GGWCC-specific type II deoxyribonucleases