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Accession number;02A0472908
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| Title;Association of nuclecotide polymorphisms in human clock-relevant genes with circadin rhythm sleep disoraders. |
| Author;
EBISAWA TAKASHI
(Saitamaidai Seishin'igaku)
UCHIYAMA MAKOTO
(Natl. Center of Neurol. and Psychiatry, Natl. Inst. of Ment. Health)
KAJIMURA NAOFUMI
(Natl. Center Hosp. for Ment., Nerv. and Muscular Disord.)
MISHIMA KAZUO
(Akitadai I Seishinka)
KAMEI YUICHI
(Kokuritsu Seishin Shinkei Senta Konodai Byoin)
YOSHIMURA KIMIO
(Kokuritsuganse Ganjohokenkyubu)
IKEDA MASAAKI
(Saitamaidai Daiichiseirigaku)
NAGAO MARIKO
(Saitama-Kenritsu Seishin Hoken Sogo Senta)
YAMADA NAOTO
(Shigaidai Seishin'igaku)
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Journal Title;Annual Report of the Pharmacopsychiatry Research Foundation
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Journal Code:Y0939A
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ISSN:0286-7591
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VOL.;NO.34;PAGE.287-292(2002)
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| Figure&Table&Reference;FIG.2, TBL.2, REF.21 |
| Pub. Country;Japan |
| Language;Japanese |
| Abstract;All of the coding exons in human Per3 gene were screened for nucleotide polymorphisms in circadian rhythm sleep disorder patients and normal controls. Using PCR-SSCP analysis and direct sequencing of the PCR product, twenty polymorphisms were detected. Six of the polymorphisms predicted amino acid changes and constituted 4 haplotypes. One of the haplotypes (designated as H4 haplotype) was found in 14.6% of the delayed sleep phase syndrome(DSPS) patients while only 2% of the control subjects carried the H4 haplotype. Out of the 5 polymorphisms which constitutes the H4 haplotype, two polymorphisms [G647,R1158] were found only in the H4 haplotype. It is likely that G647 affects the phosphorylation of the PER3 protein by Casein Kinase I.EPSILON.. These results suggest that V647G polymorphism of hPEr3 gene may confer susceptibility to DSPS. Genetic analysis of circadian rhythm sleep disorder is a good precedent for analyzing polygenic and heterogenous diseases such as schizophrenia and affective disorders. (author abst.) |
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