Susceptibility of ECE1 polymorphisms to Hirschsprung's disease in southern Chinese children
BackgroundHirschsprung's disease (HSCR) is currently considered to be a congenital gastrointestinal malformation caused mainly by genetic factors. Endothelin Converting Enzyme-1 (ECE1) has been reported to be associated with HSCR. However, the relationship between ECE1 single nucleotide polymor...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-12-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.1056938/full |
| _version_ | 1797979488357711872 |
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| author | Chaoting Lan Yanqing Liu Xiao Wu Bingtong Wang Songqing Xin Qiuming He Wei Zhong Zipeng Liu |
| author_facet | Chaoting Lan Yanqing Liu Xiao Wu Bingtong Wang Songqing Xin Qiuming He Wei Zhong Zipeng Liu |
| author_sort | Chaoting Lan |
| collection | DOAJ |
| description | BackgroundHirschsprung's disease (HSCR) is currently considered to be a congenital gastrointestinal malformation caused mainly by genetic factors. Endothelin Converting Enzyme-1 (ECE1) has been reported to be associated with HSCR. However, the relationship between ECE1 single nucleotide polymorphism (SNP) rs169884 and HSCR in the southern Chinese population remains unknown.Methods1,470 HSCR patients and 1,473 controls from a southern Chinese population were recruited. The intronic SNP rs169884 in ECE1 was genotyped in all samples. We tested the association between rs169884 and HSCR under various genetic models. We also evaluated the effect of rs169884 on HSCR subtypes, including short-segment HSCR (S-HSCR), long-segment HSCR (L-HSCR) and total colonic aganglionosis (TCA). External epigenetic data were integrated to investigate the potential biological function of rs169884.ResultsChromatin states data from derived neuron cells or fetal colon tissue revealed that rs169884 might control ECE1 expression through regulating its enhancer function. We did not find a significant association between rs169884 and HSCR. For HSCR subtypes, although no significant associations were detected between rs169884 and S-HSCR (OR = 1.00, 95% CI: 0.89∼1.12, Padj = 0.77) or TCA (OR = 1.00, 95% CI: 0.72∼1.38, Padj = 0.94), we found that rs169884 could increase the risk of L-HSCR (OR = 1.23, 95% CI 1.02∼1.45, Padj = 0.024).ConclusionThese results suggested that rs169884 might play a regulatory role for ECE1 expression and increase susceptibility of L-HSCR in southern Chinese children. |
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| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-11T05:39:37Z |
| publishDate | 2022-12-01 |
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| series | Frontiers in Pediatrics |
| spelling | doaj.art-d96d83681fe04379b727e5c9deeade292022-12-22T08:55:49ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602022-12-011010.3389/fped.2022.10569381056938Susceptibility of ECE1 polymorphisms to Hirschsprung's disease in southern Chinese childrenChaoting Lan0Yanqing Liu1Xiao Wu2Bingtong Wang3Songqing Xin4Qiuming He5Wei Zhong6Zipeng Liu7Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, ChinaDepartment of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, ChinaGuangzhou Women and Children's Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Medical University, Guangzhou, ChinaGuangzhou Women and Children's Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Medical University, Guangzhou, ChinaChangan Hospital of Dongguan, Dongguan, ChinaDepartment of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, ChinaDepartment of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, ChinaDepartment of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, ChinaBackgroundHirschsprung's disease (HSCR) is currently considered to be a congenital gastrointestinal malformation caused mainly by genetic factors. Endothelin Converting Enzyme-1 (ECE1) has been reported to be associated with HSCR. However, the relationship between ECE1 single nucleotide polymorphism (SNP) rs169884 and HSCR in the southern Chinese population remains unknown.Methods1,470 HSCR patients and 1,473 controls from a southern Chinese population were recruited. The intronic SNP rs169884 in ECE1 was genotyped in all samples. We tested the association between rs169884 and HSCR under various genetic models. We also evaluated the effect of rs169884 on HSCR subtypes, including short-segment HSCR (S-HSCR), long-segment HSCR (L-HSCR) and total colonic aganglionosis (TCA). External epigenetic data were integrated to investigate the potential biological function of rs169884.ResultsChromatin states data from derived neuron cells or fetal colon tissue revealed that rs169884 might control ECE1 expression through regulating its enhancer function. We did not find a significant association between rs169884 and HSCR. For HSCR subtypes, although no significant associations were detected between rs169884 and S-HSCR (OR = 1.00, 95% CI: 0.89∼1.12, Padj = 0.77) or TCA (OR = 1.00, 95% CI: 0.72∼1.38, Padj = 0.94), we found that rs169884 could increase the risk of L-HSCR (OR = 1.23, 95% CI 1.02∼1.45, Padj = 0.024).ConclusionThese results suggested that rs169884 might play a regulatory role for ECE1 expression and increase susceptibility of L-HSCR in southern Chinese children.https://www.frontiersin.org/articles/10.3389/fped.2022.1056938/fullHirschsprung's diseaseEndothelin Converting Enzyme-1single nucleotide polymorphismepigenetic regulationHSCR subtypes |
| spellingShingle | Chaoting Lan Yanqing Liu Xiao Wu Bingtong Wang Songqing Xin Qiuming He Wei Zhong Zipeng Liu Susceptibility of ECE1 polymorphisms to Hirschsprung's disease in southern Chinese children Frontiers in Pediatrics Hirschsprung's disease Endothelin Converting Enzyme-1 single nucleotide polymorphism epigenetic regulation HSCR subtypes |
| title | Susceptibility of ECE1 polymorphisms to Hirschsprung's disease in southern Chinese children |
| title_full | Susceptibility of ECE1 polymorphisms to Hirschsprung's disease in southern Chinese children |
| title_fullStr | Susceptibility of ECE1 polymorphisms to Hirschsprung's disease in southern Chinese children |
| title_full_unstemmed | Susceptibility of ECE1 polymorphisms to Hirschsprung's disease in southern Chinese children |
| title_short | Susceptibility of ECE1 polymorphisms to Hirschsprung's disease in southern Chinese children |
| title_sort | susceptibility of ece1 polymorphisms to hirschsprung s disease in southern chinese children |
| topic | Hirschsprung's disease Endothelin Converting Enzyme-1 single nucleotide polymorphism epigenetic regulation HSCR subtypes |
| url | https://www.frontiersin.org/articles/10.3389/fped.2022.1056938/full |
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