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http://purl.uniprot.org/citations/17448763http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
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Background

Slow transit constipation (STC) affects up to 3% of all children and is an increasingly recognized cause of chronic constipation in children. We conducted a pilot study to investigate whether genes encoding neurotransmitters (TAC1, TAC3, VIP, NOS1) and receptors (TACR1, TACR2, TACR3, KIT) could be responsible for STC.

Methods

One hundred seventeen tag single nucleotide polymorphisms (SNPs), distributed among the candidate genes, were selected from HapMap data and genotyped using Sequenom (San Diego, CA) technology in 35 affected families. Evaluation of association was performed by transmission disequilibrium test and multilocus analysis.

Results

Five SNPs (rs3771863, rs4580655, rs11722288, rs4563545, and rs3782221) in the TACR1, TACR3, KIT, and NOS1 genes were found to be potentially associated with STC, although the significance of these results does not withstand correction for multiple testing.

Conclusions

Our data indicate that 5 SNPs in the NOS1, TACR1, TACR3, and KIT genes could be involved in STC, especially rs3771863 in intron 1 of TACR1, which showed the highest association."xsd:string
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http://purl.uniprot.org/citations/17448763http://purl.uniprot.org/core/author"Miao X."xsd:string
http://purl.uniprot.org/citations/17448763http://purl.uniprot.org/core/author"Garcia-Barcelo M."xsd:string
http://purl.uniprot.org/citations/17448763http://purl.uniprot.org/core/author"So M.T."xsd:string
http://purl.uniprot.org/citations/17448763http://purl.uniprot.org/core/author"Tam P.K."xsd:string
http://purl.uniprot.org/citations/17448763http://purl.uniprot.org/core/author"Holden W.T."xsd:string
http://purl.uniprot.org/citations/17448763http://purl.uniprot.org/core/author"Hutson J.M."xsd:string
http://purl.uniprot.org/citations/17448763http://purl.uniprot.org/core/author"King S.K."xsd:string
http://purl.uniprot.org/citations/17448763http://purl.uniprot.org/core/author"Moore J.H."xsd:string
http://purl.uniprot.org/citations/17448763http://purl.uniprot.org/core/author"Sutcliffe J.R."xsd:string
http://purl.uniprot.org/citations/17448763http://purl.uniprot.org/core/date"2007"xsd:gYear
http://purl.uniprot.org/citations/17448763http://purl.uniprot.org/core/name"J Pediatr Surg"xsd:string
http://purl.uniprot.org/citations/17448763http://purl.uniprot.org/core/pages"666-671"xsd:string
http://purl.uniprot.org/citations/17448763http://purl.uniprot.org/core/title"Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation."xsd:string
http://purl.uniprot.org/citations/17448763http://purl.uniprot.org/core/volume"42"xsd:string
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