No coding variant of the tryptophan hydroxylase gene detected in seasonal affective disorder, obsessive-compulsive disorder, anorexia nervosa, and alcoholism

被引：69

作者：

Han, L ^{[1
]}

Nielsen, DA ^{[1
]}

Rosenthal, NE ^{[1
]}

Jefferson, K ^{[1
]}

Kaye, W ^{[1
]}

Murphy, D ^{[1
]}

Altemus, M ^{[1
]}

Humphries, J ^{[1
]}

Cassano, G ^{[1
]}

Rotondo, A ^{[1
]}

Virkkunen, M ^{[1
]}

Linnoila, M ^{[1
]}

Goldman, D ^{[1
]}

机构：

[1] NIAAA, NIH, Neurogenet Lab, Rockville, MD 20851 USA

来源：

BIOLOGICAL PSYCHIATRY | 1999年 / 45卷 / 05期

关键词：

anorexia nervosa; obsessive-compulsive disorder; tryptophan hydroxylase gene; polymorphism; single-strand conformation polymorphism;

D O I：

10.1016/S0006-3223(98)00122-X

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Background: The goal of this study was to evaluate the role of genetic variation in the coding sequence of tryptophan hydroxylase (TPH) in the pathogenesis of several psychiatric diseases in which altered serotonin function has been implicated: bipolar affective disorder (BP), obsessive-compulsive disorder (OCD), anorexia nervosa (AN), seasonal affective disorder (SAD), panic disorder (PD), and alcoholism (Alc), Methods: Ninety-three percent of the TPH coding sequence was screened by polymerase chain reaction single-strand conformation polymorphism (SSCP) for DNA sequence variations in 128 AN, 88 OCD, 72 SAD, 45 PD, and 36 BP patients and 142 normal volunteers. Also included in the screening were 61 Ale randomly selected from a Finnish alcoholic population in which art association of a TPH intron 7 polymorphism with suicidality was previously observed. Polymorphisms detected by SSCP were characterized by DNA sequencing and by allele-specific restriction enzyme digestion. Genotyping was then performed in 34 Finnish alcoholic suicide attempters. Results: A rare silent mutation was identified in exon 10 and is designated T1095C. The C1095 allele was found in I OCD and in 2 AN subjects; all 3 individuals were heterozygous (C1095/T1095) for the variant allele. No association was observed between this TPH T1095C variant with either OCD, AN, Ale, or suicidality. Conclusion: These results suggest that the coding sequence of the TPH gene does not contain abundant variants, and may not play a major role in vulnerability to several psychopathologies in which reduced serotonin turnover has been implicated. Biol Psychiatry 1999;45: 615-619 (C) 1999 Society of Biological Psychiatry.

引用

页码：615 / 619

页数：5

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