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New variations of the EDNRB gene and its association with sporadic Hirschsprung's disease in Korea.
J Pediatr Surg. 2006 Oct; 41(10):1708-12.JP

Abstract

BACKGROUND/PURPOSE

The endothelin receptor B (EDNRB) signaling pathway, which is the second major susceptible gene for Hirschsprung's disease (HSCR), is crucial for the development of the enteric nervous system. The allele frequency of polymorphisms was mostly tested in the American and European population, but the data of an ethnically diverse, non-Caucasian population are unclear. To further investigate the variants and haplotypes of the EDNRB gene, this study examined sequence variations in Korean patients with sporadic HSCR.

METHODS

All 8 exons and intron/exon boundaries of the EDNRB gene in 18 Korean patients with sporadic HSCR and 84 healthy individuals were screened using PCR amplification and direct sequencing.

RESULTS

A total of 8 different nucleotide substitutions were identified. Of these, 4 were new variants (promoter-116C>T; 5'UTR-121G>T; IVS4+62C>A; IVS5+121G>C) and the others were previously described variants. The distribution of variations was even different from that reported for Chinese and Japanese subjects as well as other ethnic groups. This study also analyzed the haplotypes for an association between the variants identified with HSCR.

CONCLUSIONS

This study identified additional sequence variants of the EDNRB gene, but the estimated EDNRB haplotypes did not show any disease risk.

Authors+Show Affiliations

School of Life Sciences and Biotechnology, Korea University, Seoul, South Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17011274

Citation

Kim, Jeong-Hyun, et al. "New Variations of the EDNRB Gene and Its Association With Sporadic Hirschsprung's Disease in Korea." Journal of Pediatric Surgery, vol. 41, no. 10, 2006, pp. 1708-12.
Kim JH, Yoon KO, Kim H, et al. New variations of the EDNRB gene and its association with sporadic Hirschsprung's disease in Korea. J Pediatr Surg. 2006;41(10):1708-12.
Kim, J. H., Yoon, K. O., Kim, H., Kim, J. K., Kim, J. W., Lee, S. K., & Seo, J. M. (2006). New variations of the EDNRB gene and its association with sporadic Hirschsprung's disease in Korea. Journal of Pediatric Surgery, 41(10), 1708-12.
Kim JH, et al. New Variations of the EDNRB Gene and Its Association With Sporadic Hirschsprung's Disease in Korea. J Pediatr Surg. 2006;41(10):1708-12. PubMed PMID: 17011274.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New variations of the EDNRB gene and its association with sporadic Hirschsprung's disease in Korea. AU - Kim,Jeong-Hyun, AU - Yoon,Kyong-Oh, AU - Kim,Hyungtae, AU - Kim,Jeong-Kook, AU - Kim,Jong-Won, AU - Lee,Suk-Koo, AU - Seo,Jeong-Meen, PY - 2006/10/3/pubmed PY - 2006/10/28/medline PY - 2006/10/3/entrez SP - 1708 EP - 12 JF - Journal of pediatric surgery JO - J Pediatr Surg VL - 41 IS - 10 N2 - BACKGROUND/PURPOSE: The endothelin receptor B (EDNRB) signaling pathway, which is the second major susceptible gene for Hirschsprung's disease (HSCR), is crucial for the development of the enteric nervous system. The allele frequency of polymorphisms was mostly tested in the American and European population, but the data of an ethnically diverse, non-Caucasian population are unclear. To further investigate the variants and haplotypes of the EDNRB gene, this study examined sequence variations in Korean patients with sporadic HSCR. METHODS: All 8 exons and intron/exon boundaries of the EDNRB gene in 18 Korean patients with sporadic HSCR and 84 healthy individuals were screened using PCR amplification and direct sequencing. RESULTS: A total of 8 different nucleotide substitutions were identified. Of these, 4 were new variants (promoter-116C>T; 5'UTR-121G>T; IVS4+62C>A; IVS5+121G>C) and the others were previously described variants. The distribution of variations was even different from that reported for Chinese and Japanese subjects as well as other ethnic groups. This study also analyzed the haplotypes for an association between the variants identified with HSCR. CONCLUSIONS: This study identified additional sequence variants of the EDNRB gene, but the estimated EDNRB haplotypes did not show any disease risk. SN - 1531-5037 UR - https://www.unboundmedicine.com/medline/citation/17011274/New_variations_of_the_EDNRB_gene_and_its_association_with_sporadic_Hirschsprung's_disease_in_Korea_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-3468(06)00401-5 DB - PRIME DP - Unbound Medicine ER -