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Associations of tryptophan hydroxylase gene polymorphisms with irritable bowel syndrome

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Author(s)
S. JUNR. KOHENK. C. CAINM. E. JARRETTM. M. HEITKEMPER
Keimyung Author(s)
Jun, Sang Eun
Department
Dept. of Nursing (간호학)
Journal Title
Neurogastroenterology and motility
Issued Date
2011
Volume
23
Issue
3
Keyword
genetic associationIBSpolymorphismsTPH1TPH2
Abstract
Background Alterations in serotonin (5-HT) are
suspected in the pathophysiology of irritable bowel
syndrome (IBS). Tryptophan hydroxylase (TPH) is the
rate-limiting enzyme in the biosynthesis of serotonin
and has two isoforms: TPH1 and TPH2. Genetic variants
in both genes have been studied in various disorders
related to serotonin dysregulation. The aim of
this study was to examine whether TPH gene variants
were associated with IBS and IBS-related gastrointestinal
(GI) symptoms. Methods Five single nucleotide
polymorphisms (SNPs) from the TPH1 and one SNP
from the TPH2 were genotyped in 199 IBS patients and
79 healthy controls. All subjects were Caucasian
women of European origin. Irritable bowel syndrome
patients filled in a daily diary with five GI symptoms
and stool characteristics for 28 days. Key Results The
TPH1 SNPs showed no association with the diagnosis
of IBS. However, among IBS patients, all five TPH1
SNPs showed some association with diarrhea and
loose type of stool consistency, with P-values rating
from 0.01 to 0.20. The TPH2 SNP showed a trend
towards a reduced risk of IBS and possible associations
with stool characteristics, both hard and loose stools.
However, no P-values were less than the conservative
multiple-comparison-adjusted threshold of 0.001 and
hence these results must be interpreted cautiously.
Conclusions & Inferences This study is the first to
assess associations of TPH gene variants with IBSrelated
GI symptoms and stool characteristics. The
possible association of TPH gene variants with diarrhea
needs to be verified in an independent sample.
Keywords genetic association, IBS, polymorphisms,
TPH1, TPH2.
Keimyung Author(s)(Kor)
전상은
Publisher
School of Medicine
Citation
S. JUN et al. (2011). Associations of tryptophan hydroxylase gene polymorphisms with irritable bowel syndrome. Neurogastroenterology and motility, 23(3), 233–e116-233–e116. doi: 10.1111/j.1365-2982.2010.01623.x
Type
Article
ISSN
1350-1925
DOI
10.1111/j.1365-2982.2010.01623.x
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/33495
Appears in Collections:
2. College of Nursing (간호대학) > Dept. of Nursing (간호학)
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