Susceptibility of PCSK2 Polymorphism to Hirschsprung Disease in Southern Chinese Children
Bingtong Wang,* Wenlin Fang,* Dingjiang Qin,* Qiuming He, Chaoting Lan Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, 510623, People’s Republic of China*These auth...
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| Format: | Article |
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Dove Medical Press
2023-05-01
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| Series: | Clinical and Experimental Gastroenterology |
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| Online Access: | https://www.dovepress.com/susceptibility-of-pcsk2-polymorphism-to-hirschsprung-disease-in-southe-peer-reviewed-fulltext-article-CEG |
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| author | Wang B Fang W Qin D He Q Lan C |
| author_facet | Wang B Fang W Qin D He Q Lan C |
| author_sort | Wang B |
| collection | DOAJ |
| description | Bingtong Wang,* Wenlin Fang,* Dingjiang Qin,* Qiuming He, Chaoting Lan Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, 510623, People’s Republic of China*These authors contributed equally to this workCorrespondence: Chaoting Lan, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, 510623, People’s Republic of China, Email 415879043@qq.comIntroduction: Hirschsprung’s disease (HSCR) is a developmental defect of the enteric nervous system (ENS), which is caused by abnormal development of enteric neural crest cells. Its occurrence is caused by genetic factors and environmental factors. It has been reported that single nucleotide polymorphisms (SNPs) of proprotein convertase subtilisin/kexin type 2 (PCSK2) gene are associated with HSCR. However, the correlation of HSCR in southern Chinese population is still unclear.Methods: We assessed the association of rs16998727 with HSCR susceptibility in southern Chinese children using TaqMan SNP genotyping analysis of 2943 samples, including 1470 HSCR patients and 1473 controls. The association test between rs16998727 and phenotypes was performed using multivariable logistic regression analysis.Results: We got an unexpected result, PCSK2 SNP rs16998727 was not significantly different from HSCR and its HSCR subtypes: S-HSCR (OR = 1.08, 95% IC: 0.93~1.27, P_adj = 0.3208), L-HSCR (OR = 1.07, 95% IC: 0.84~1.36, P_adj = 0.5958) and TCA (OR = 0.94, 95% IC: 0.61~1.47, P_adj = 0.8001).Conclusion: In summary, we report that rs16998727 (PCSK2 and OTOR) is not associated with the risk of HSCR in southern Chinese population.Keywords: Hirschsprung’s disease, HSCR, single nucleotide polymorphism, SNP, proprotein convertase subtilisin/kexin type 2, PCSK2, genetic susceptibility |
| first_indexed | 2024-03-13T11:00:38Z |
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| institution | Directory Open Access Journal |
| issn | 1178-7023 |
| language | English |
| last_indexed | 2024-03-13T11:00:38Z |
| publishDate | 2023-05-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | Clinical and Experimental Gastroenterology |
| spelling | doaj.art-a7c45d7fa8454548830d19b6c6b75bbf2023-05-16T19:06:18ZengDove Medical PressClinical and Experimental Gastroenterology1178-70232023-05-01Volume 16596483723Susceptibility of PCSK2 Polymorphism to Hirschsprung Disease in Southern Chinese ChildrenWang BFang WQin DHe QLan CBingtong Wang,* Wenlin Fang,* Dingjiang Qin,* Qiuming He, Chaoting Lan Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, 510623, People’s Republic of China*These authors contributed equally to this workCorrespondence: Chaoting Lan, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, 510623, People’s Republic of China, Email 415879043@qq.comIntroduction: Hirschsprung’s disease (HSCR) is a developmental defect of the enteric nervous system (ENS), which is caused by abnormal development of enteric neural crest cells. Its occurrence is caused by genetic factors and environmental factors. It has been reported that single nucleotide polymorphisms (SNPs) of proprotein convertase subtilisin/kexin type 2 (PCSK2) gene are associated with HSCR. However, the correlation of HSCR in southern Chinese population is still unclear.Methods: We assessed the association of rs16998727 with HSCR susceptibility in southern Chinese children using TaqMan SNP genotyping analysis of 2943 samples, including 1470 HSCR patients and 1473 controls. The association test between rs16998727 and phenotypes was performed using multivariable logistic regression analysis.Results: We got an unexpected result, PCSK2 SNP rs16998727 was not significantly different from HSCR and its HSCR subtypes: S-HSCR (OR = 1.08, 95% IC: 0.93~1.27, P_adj = 0.3208), L-HSCR (OR = 1.07, 95% IC: 0.84~1.36, P_adj = 0.5958) and TCA (OR = 0.94, 95% IC: 0.61~1.47, P_adj = 0.8001).Conclusion: In summary, we report that rs16998727 (PCSK2 and OTOR) is not associated with the risk of HSCR in southern Chinese population.Keywords: Hirschsprung’s disease, HSCR, single nucleotide polymorphism, SNP, proprotein convertase subtilisin/kexin type 2, PCSK2, genetic susceptibilityhttps://www.dovepress.com/susceptibility-of-pcsk2-polymorphism-to-hirschsprung-disease-in-southe-peer-reviewed-fulltext-article-CEGhirschsprung's diseasehscrsingle nucleotide polymorphismsnpproprotein convertase subtilisin/kexin type 2pcsk2genetic susceptibility |
| spellingShingle | Wang B Fang W Qin D He Q Lan C Susceptibility of PCSK2 Polymorphism to Hirschsprung Disease in Southern Chinese Children Clinical and Experimental Gastroenterology hirschsprung's disease hscr single nucleotide polymorphism snp proprotein convertase subtilisin/kexin type 2 pcsk2 genetic susceptibility |
| title | Susceptibility of PCSK2 Polymorphism to Hirschsprung Disease in Southern Chinese Children |
| title_full | Susceptibility of PCSK2 Polymorphism to Hirschsprung Disease in Southern Chinese Children |
| title_fullStr | Susceptibility of PCSK2 Polymorphism to Hirschsprung Disease in Southern Chinese Children |
| title_full_unstemmed | Susceptibility of PCSK2 Polymorphism to Hirschsprung Disease in Southern Chinese Children |
| title_short | Susceptibility of PCSK2 Polymorphism to Hirschsprung Disease in Southern Chinese Children |
| title_sort | susceptibility of pcsk2 polymorphism to hirschsprung disease in southern chinese children |
| topic | hirschsprung's disease hscr single nucleotide polymorphism snp proprotein convertase subtilisin/kexin type 2 pcsk2 genetic susceptibility |
| url | https://www.dovepress.com/susceptibility-of-pcsk2-polymorphism-to-hirschsprung-disease-in-southe-peer-reviewed-fulltext-article-CEG |
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