title: Genome-wide association study with the risk of schizophrenia in a Korean population.
abstract: Schizophrenia is regarded as a multifactorial and polygenic brain disorder that is attributed to different combinations of genetic and environmental risk factors. Recently, several genome-wide association studies (GWASs) of schizophrenia have identified numerous risk factors, but the replication results remain controversial and ambiguous. To identify schizophrenia susceptibility loci in the Korean population, we performed a GWAS using the Illumina HumanOmni1-Quad V1.0 Microarray. We genotyped 1,140,419 single nucleotide polymorphisms (SNPs) in 350 Korea schizophrenia patients and 700 control subjects, and approximately 620,001 autosomal SNPs were passed our quality control. In the case-control analysis, the rs9607195 A>G on intergenic area 250 kb away from the ISX gene and the rs12738007 A>G on the intron of the MECR gene were the most strongly associated SNPs with the risk of schizophrenia (P = 6.2 × 10(-8) , OR = 0.50 and P = 3.7 × 10(-7) , OR = 2.39, respectively). In subsequent fine-mapping analysis, 6 SNPs of MECR were genotyped with 310 schizophrenia patients and 604 control subjects. The association of the MECR rs12738007, a top ranked-SNP in GWAS, was replicated (P = 1.5 × 10(-2) , OR = 1.53 in fine mapping analysis, P = 1.5 × 10(-6) , OR = 1.90 in combined analysis). The identification of putative schizophrenia susceptibility loci could provide new insights into genetic factors related with schizophrenia and clues for the development of diagnosis strategies.
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Mapo-gu, Seoul, Republic of Korea.|Department of Life Science, Sogang University, Mapo-gu, Seoul, Republic of Korea.
authors.forename: Lyoung Hyo
authors.initials: LH
authors.lastname: Kim
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Mapo-gu, Seoul, Republic of Korea.
authors.forename: Byung Lae
authors.initials: BL
authors.lastname: Park
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Mapo-gu, Seoul, Republic of Korea.
authors.forename: Hyun Sub
authors.initials: HS
authors.lastname: Cheong
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Mapo-gu, Seoul, Republic of Korea.|Department of Life Science, Sogang University, Mapo-gu, Seoul, Republic of Korea.
authors.forename: Suhg
authors.initials: S
authors.lastname: Namgoong
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Mapo-gu, Seoul, Republic of Korea.
authors.forename: Ji On
authors.initials: JO
authors.lastname: Kim
authors.affiliation: Department of Life Science, Sogang University, Mapo-gu, Seoul, Republic of Korea.
authors.forename: Jeong-Hyun
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Department of Life Science, Sogang University, Mapo-gu, Seoul, Republic of Korea.
authors.forename: Joong-Gon
authors.initials: JG
authors.lastname: Shin
authors.affiliation: Department of Psychiatry, College of Medicine, Gyeongsang National University, Gyeongsang Nam Do, Republic of Korea.
authors.forename: Chul Soo
authors.initials: CS
authors.lastname: Park
authors.affiliation: Department of Psychiatry, College of Medicine, Gyeongsang National University, Gyeongsang Nam Do, Republic of Korea.
authors.forename: Bong-Jo
authors.initials: BJ
authors.lastname: Kim
authors.affiliation: Division of Life Science, Research Institute of Life Science, Gyeongsang National University, Jinju-ro, Gyeongsang Nam Do, Republic of Korea.
authors.forename: Jae Won
authors.initials: JW
authors.lastname: Kim
authors.affiliation: Department of Neuropsychiatry, Hallym University, Han-Gang Sacred Heart Hospital, Yeongdeungpo-gu, Seoul, Republic of Korea.
authors.forename: Ihn-Geun
authors.initials: IG
authors.lastname: Choi
authors.affiliation: Department of Neuropsychiatry, Soonchunhyang University Hospital, Yongsan-gu, Seoul, Republic of Korea.
authors.forename: Jaeuk
authors.initials: J
authors.lastname: Hwang
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Mapo-gu, Seoul, Republic of Korea.|Department of Life Science, Sogang University, Mapo-gu, Seoul, Republic of Korea.
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
authors.affiliation: Department of Neuropsychiatry, Soonchunhyang University Hospital, Yongsan-gu, Seoul, Republic of Korea.
authors.forename: Sung-Il
authors.initials: SI
authors.lastname: Woo
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D003198:Computer Simulation; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020161:Physical Chromosome Mapping; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D056910:Republic of Korea; D012307:Risk Factors; D012559:Schizophrenia / Q000235:genetics*
keywords: MECR; genome-wide association study; schizophrenia; single nucleotide polymorphism