Document Detail

RET 3'UTR polymorphisms and its protective role in Hirschsprung disease in Southeastern Chinese.
MedLine Citation:
PMID:  22974609     Owner:  NLM     Status:  In-Data-Review    
BACKGROUND: Hirschsprung disease (HSCR) is a complex congenital disorder characterized by intestinal obstructions owing to the absence of the intestinal ganglion cells of the nerve plexuses in variable lengths of the digestive tract. Several RET polymorphisms and haplotypes have been described as underrepresented in HSCR patients with respect to controls. We thus sought to investigate whether polymorphisms in RET 3'UTR are associated with isolated HSCR in the Chinese population.
METHODS: Polymerase chain reaction amplification and direct sequencing were used to screen polymorphisms in RET 3'UTR in patients with sporadic HSCR and ethnically matched controls in Han Chinese populations. Association tests of RET 3'UTR variants and haplotypes with HSCR were performed.
RESULTS: We examined a total of 107 Chinese sporadic HSCR patients and 89 ethnically matched controls by sequencing the 3'UTR of the RET gene. Five single nucleotide polymorphisms (SNPs) and 2 monomorphic SNPs were identified. The genotype distributions and the allele frequencies of the 5 SNPs were significantly different between HSCR cases and controls and occurred more frequently in the control population. Haplotype analysis has shown a higher frequency of haplotypes comprising variant alleles in controls as compared with cases.
CONCLUSIONS: The significant deviations of the genotype distributions and the allele frequencies of these SNPs in the HSCR population compared with the control population demonstrate that these SNPs have a strong negative association with HSCR and could act as protective alleles.
Zhi-Wen Pan; Chun-Fen Luo; Zheng-Ji Liu; Ji-Cheng Li
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of pediatric surgery     Volume:  47     ISSN:  1531-5037     ISO Abbreviation:  J. Pediatr. Surg.     Publication Date:  2012 Sep 
Date Detail:
Created Date:  2012-09-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0052631     Medline TA:  J Pediatr Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1699-705     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
Institute of Cell Biology, Zhejiang University, Hangzhou 310058, China.
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