title: Candidate gene polymorphisms among North Indians and their association with schizophrenia in a case-control study.
abstract: Knowledge of candidate gene polymorphisms in a population is useful for a variety of gene-disease association studies, particularly for some complex traits. A number of candidate genes, a majority of them from the monoaminergic pathway in the brain, have been very popular in association studies with schizophrenia, a neuropsychiatric disorder. In this study diallelic/multiallelic polymorphisms in some dopaminergic, serotonergic and membrane-phospholipid-related genes have been evaluated in a control population recruited from North India. Association, if any, of these allelic variants with schizophrenia has been tested using a case-control approach. The case data have been taken from our published family-based association studies in schizophrenia. Of the eight genes tested in this study, association with schizophrenia was observed for only two gene polymorphisms, one in the promoter region of the serotonin 2A receptor gene and the other in the tryptophan hydroxylase gene. One new allele for the dopamine transporter gene (with eight repeats, 570-bp size), not reported in any population so far, has been identified in one individual in our sample. The data generated in this study, besides providing a normative background for various disease association studies, are a significant contribution to the population-specific genome database, a currently growing requirement.
authors.affiliation: Department of Genetics, University of Delhi South Campus, Benito Juarez Road, New Delhi 110 021, India.
authors.forename: Prachi
authors.initials: P
authors.lastname: Semwal
authors.forename: Suman
authors.initials: S
authors.lastname: Prasad
authors.forename: Panchami G
authors.initials: PG
authors.lastname: Varma
authors.forename: A M
authors.initials: AM
authors.lastname: Bhagwat
authors.forename: S N
authors.initials: SN
authors.lastname: Deshpande
authors.forename: B K
authors.initials: BK
authors.lastname: Thelma
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D002394:Catechol O-Methyltransferase / Q000235:genetics; D004298:Dopamine / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007194:India; D008297:Male; D010741:Phospholipases A / Q000235:genetics; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics; D011110:Polymorphism, Genetic; D011985:Receptors, Serotonin / Q000235:genetics; D012559:Schizophrenia / Q000235:genetics*; D014365:Tryptophan Hydroxylase / Q000235:genetics
chemical_list: D011985:Receptors, Serotonin; D014365:Tryptophan Hydroxylase; D002394:Catechol O-Methyltransferase; D010741:Phospholipases A; D010744:Phosphoric Monoester Hydrolases; C053087:inositol-1,4-bisphosphate 1-phosphatase; D004298:Dopamine