title: Investigating the potential genetic association between RANBP9 polymorphisms and the risk of schizophrenia.
abstract: Schizophrenia is a serious mental disorder that is affected by genetic and environmental factors. As the disease has a high heritability rate, genetic studies identifying candidate genes for schizophrenia have been conducted in various populations. The gene for human Ran‑binding protein 9 (RANBP9) is a newly discovered candidate gene for schizophrenia. As RANBP9 is a small guanosine‑5'‑triphosphate‑binding protein that interacts with the disrupted in schizophrenia 1 protein, it is considered to be an important molecule in the pathogenesis of schizophrenia. However, to date, no study has examined the possible association between the genetic variations of RANBP9 and the risk of schizophrenia. In the present study, it was hypothesized that RANBP9 variations may influence the risk of schizophrenia. In order to investigate the association between RANBP9 polymorphisms and the risk of schizophrenia and smooth pursuit eye movement (SPEM) abnormalities, a case‑control association analysis was performed. Using a TaqMan assay, five single‑nucleotide polymorphisms and an insertion/deletion variation within the start codon region of RANBP9 were genotyped. Five major haplotypes were identified in 449 patients with schizophrenia and 393 unrelated healthy individuals as controls (total, n=842). However, the association analyses revealed no associations between all genetic variants and schizophrenia and SPEM abnormality. To the best of our knowledge, this is the first study to investigate an association between RANBP9 polymorphisms and schizophrenia and SPEM abnormality. The findings of allele frequencies and association results in this study may aid in further genetic etiological studies in schizophrenia in various populations.
authors.affiliation: Laboratory of Translational Genomics, Samsung Genome Institute, Samsung Medical Center, Seoul 135‑710, Republic of Korea.
authors.forename: Joon Seol
authors.initials: JS
authors.lastname: Bae
authors.affiliation: Laboratory of Genomic Diversity, Department of Life Science, Sogang University, Seoul 121‑742, Republic of Korea.
authors.forename: Jason Yongha
authors.initials: JY
authors.lastname: Kim
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Sogang University, Seoul 121‑742, Republic of Korea.
authors.forename: Byung-Lae
authors.initials: BL
authors.lastname: Park
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Sogang University, Seoul 121‑742, Republic of Korea.
authors.forename: Hyun Sub
authors.initials: HS
authors.lastname: Cheong
authors.affiliation: Laboratory of Genomic Diversity, Department of Life Science, Sogang University, Seoul 121‑742, Republic of Korea.
authors.forename: Jeong-Hyun
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Laboratory of Genomic Diversity, Department of Life Science, Sogang University, Seoul 121‑742, Republic of Korea.
authors.forename: Suhg
authors.initials: S
authors.lastname: Namgoong
authors.affiliation: Laboratory of Genomic Diversity, Department of Life Science, Sogang University, Seoul 121‑742, Republic of Korea.
authors.forename: Ji-On
authors.initials: JO
authors.lastname: Kim
authors.affiliation: Department of Psychiatry, College of Medicine, Gyeongsang National University, Jinju, Gyeongsang Nam Do, 660‑751, Republic of Korea.
authors.forename: Chul Soo
authors.initials: CS
authors.lastname: Park
authors.affiliation: Department of Psychiatry, College of Medicine, Gyeongsang National University, Jinju, Gyeongsang Nam Do, 660‑751, Republic of Korea.
authors.forename: Bong-Jo
authors.initials: BJ
authors.lastname: Kim
authors.affiliation: Department of Psychiatry, College of Medicine, Gyeongsang National University, Jinju, Gyeongsang Nam Do, 660‑751, Republic of Korea.
authors.forename: Cheol-Soon
authors.initials: CS
authors.lastname: Lee
authors.affiliation: Department of General Psychiatry, Seoul National Hospital, Seoul 110‑799, Republic of Korea.
authors.forename: Migyung
authors.initials: M
authors.lastname: Lee
authors.affiliation: Department of Biomedical Engineering, Yonsei University, Wonju, Gangwon 220‑710, Republic of Korea.
authors.forename: Woo Hyuk
authors.initials: WH
authors.lastname: Choi
authors.affiliation: Department of Biomedical Engineering, Yonsei University, Wonju, Gangwon 220‑710, Republic of Korea.
authors.forename: Tae-Min
authors.initials: TM
authors.lastname: Shin
authors.affiliation: Department of Neuropsychiatry, Soonchunhyang University Hospital, Seoul 420‑767, Republic of Korea.
authors.forename: Jaeuk
authors.initials: J
authors.lastname: Hwang
authors.affiliation: Laboratory of Genomic Diversity, Department of Life Science, Sogang University, Seoul 121‑742, Republic of Korea.
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
authors.affiliation: Department of Neuropsychiatry, Soonchunhyang University Hospital, Seoul 420‑767, Republic of Korea.
authors.forename: Sung-Il
authors.initials: SI
authors.lastname: Woo
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D016022:Case-Control Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D056910:Republic of Korea; D012306:Risk; D012559:Schizophrenia / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D009687:Nuclear Proteins; C116005:Ran binding protein 9