title: Evidence for schizophrenia susceptibility alleles in the Indian population: An association of neurodevelopmental genes in case-control and familial samples.
abstract: Schizophrenia is a severe psychiatric disorder with lifetime prevalence of ~1% worldwide. A genotyping study was conducted using a custom panel of Illumina 1536 SNPs in 840 schizophrenia cases and 876 controls (351 patients and 385 controls from North India; and 436 patients, 401 controls and 143 familial samples with 53 probands containing 37 complete and 16 incomplete trios from South India). Meta-analysis of this population of Indo-European and Dravidian ancestry identified three strongly associated variants with schizophrenia: STT3A (rs548181, p=1.47×10(-5)), NRG1 (rs17603876, p=8.66×10(-5)) and GRM7 (rs3864075, p=4.06×10(-3)). Finally, a meta-analysis was conducted comparing our data with data from the Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC-SCZ) that supported rs548181 (p=1.39×10(-7)). In addition, combined analysis of sporadic case-control association and a transmission disequilibrium test in familial samples from South Indian population identified three associations: rs1062613 (p=3.12×10(-3)), a functional promoter variant of HTR3A; rs6710782 (p=3.50×10(-3)), an intronic variant of ERBB4; and rs891903 (p=1.05×10(-2)), an intronic variant of EBF1. The results support the risk variants observed in the earlier published work and suggest a potential role of neurodevelopmental genes in the schizophrenia pathogenesis.
authors.affiliation: Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi 110007, India.
authors.forename: Ajay
authors.initials: A
authors.lastname: Jajodia
authors.affiliation: Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi 110007, India.
authors.forename: Harpreet
authors.initials: H
authors.lastname: Kaur
authors.affiliation: Department of Psychiatry, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.
authors.forename: Kalpana
authors.initials: K
authors.lastname: Kumari
authors.affiliation: Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi 110007, India.
authors.forename: Meenal
authors.initials: M
authors.lastname: Gupta
authors.affiliation: Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi 110007, India.
authors.forename: Ruchi
authors.initials: R
authors.lastname: Baghel
authors.affiliation: Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi 110007, India.
authors.forename: Ankit
authors.initials: A
authors.lastname: Srivastava
authors.affiliation: Department of Psychiatry, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.
authors.forename: Mamta
authors.initials: M
authors.lastname: Sood
authors.affiliation: Department of Psychiatry, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.
authors.forename: Rakesh Kumar
authors.initials: RK
authors.lastname: Chadda
authors.affiliation: Molecular Genetic Laboratory, Department of Psychiatry, National Institute of Mental Health and Neuro Sciences, Hosur Road, Bengaluru 560029, India.
authors.forename: Sanjeev
authors.initials: S
authors.lastname: Jain
authors.affiliation: Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi 110007, India. Electronic address: ritus@igib.res.in.
authors.forename: Ritushree
authors.initials: R
authors.lastname: Kukreti
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D060005:Genotyping Techniques; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D066247:Receptor, ErbB-4 / Q000235:genetics; D044406:Receptors, Serotonin, 5-HT3 / Q000235:genetics; D012559:Schizophrenia / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics; D044465:White People / Q000235:genetics
chemical_list: C081976:EBF1 protein, human; C509409:HTR3A protein, human; D044406:Receptors, Serotonin, 5-HT3; D015534:Trans-Activators; C587689:ERBB4 protein, human; D066247:Receptor, ErbB-4
keywords: Meta-analysis; PGC; Schizophrenia; TDT; rs1062613; rs548181