| http://purl.uniprot.org/citations/14706429 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14706429 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundSigma1 receptors are involved in the pathogenesis of drug abuse. Two polymorphisms (GC-241-240TT and Gln2Pro) in the sigma1 receptor gene (SIGMAR1) have been identified. To investigate the role of SIGMAR1 in conveying susceptibility to alcoholism, we performed a functional analysis of polymorphisms in the SIGMAR1 and a case-control study.MethodsWe initially screened for polymorphisms in the 5'-upstream region. The effects of the polymorphisms on transcriptional activity were determined using a gene reporter assay. The distribution of SIGMAR1 polymorphisms was analyzed in 307 alcoholic and 302 control subjects.ResultsA novel T-485A polymorphism was identified. The transcriptional activity of the A-485 allele and the TT-241-240 allele was significantly reduced compared with that of the T-485 allele and the GC-241-240 allele. The frequencies of the A-485 allele (chi2=5.575, df=1, p=.0205) and the TT-241-240/Pro2 haplotype (chi2=21.464, df=1, p<.0001) were significantly higher in control subjects compared with alcoholic subjects. The T-485A and the GC-241-240TT may be functional polymorphisms, and the A-485 allele and TT-241-240/Pro2 haplotype are possible protective factors for the development of alcoholism."xsd:string |
| http://purl.uniprot.org/citations/14706429 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.biopsych.2003.07.008"xsd:string |
| http://purl.uniprot.org/citations/14706429 | http://purl.uniprot.org/core/author | "Higuchi S."xsd:string |
| http://purl.uniprot.org/citations/14706429 | http://purl.uniprot.org/core/author | "Matsushita S."xsd:string |
| http://purl.uniprot.org/citations/14706429 | http://purl.uniprot.org/core/author | "Furukawa A."xsd:string |
| http://purl.uniprot.org/citations/14706429 | http://purl.uniprot.org/core/author | "Miyatake R."xsd:string |
| http://purl.uniprot.org/citations/14706429 | http://purl.uniprot.org/core/author | "Suwaki H."xsd:string |
| http://purl.uniprot.org/citations/14706429 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/14706429 | http://purl.uniprot.org/core/name | "Biol Psychiatry"xsd:string |
| http://purl.uniprot.org/citations/14706429 | http://purl.uniprot.org/core/pages | "85-90"xsd:string |
| http://purl.uniprot.org/citations/14706429 | http://purl.uniprot.org/core/title | "Functional polymorphisms in the sigma1 receptor gene associated with alcoholism."xsd:string |
| http://purl.uniprot.org/citations/14706429 | http://purl.uniprot.org/core/volume | "55"xsd:string |
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