Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation
Copyright policy )Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation
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.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.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.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.
- University of Hong Kong (香港大學) China (People's Republic of)
- Royal Children's Hospital Australia
- University of Hong Kong China (People's Republic of)
- Dartmouth College United States
- Murdoch Children's Research Institute Australia
Male, Neurotransmitter Agents, Adolescent, Genotype, Neurotransmitters, Nitric Oxide Synthase Type I, Polymorphism, Single Nucleotide, Enteric Nervous System, Linkage Disequilibrium, Candidate genes, Receptors, Neurotransmitter, Pediatric slow transit constipation, Child, Preschool, 616, Chronic Disease, Humans, Female, Child, Gastrointestinal Transit, Constipation, Vasoactive Intestinal Peptide
Male, Neurotransmitter Agents, Adolescent, Genotype, Neurotransmitters, Nitric Oxide Synthase Type I, Polymorphism, Single Nucleotide, Enteric Nervous System, Linkage Disequilibrium, Candidate genes, Receptors, Neurotransmitter, Pediatric slow transit constipation, Child, Preschool, 616, Chronic Disease, Humans, Female, Child, Gastrointestinal Transit, Constipation, Vasoactive Intestinal Peptide
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