Bingtong Wang, Wenlin Fang, Dingjiang Qin, Qiuming He, Chaoting Lan
{"title":"中国南方儿童PCSK2多态性对巨结肠病的易感性","authors":"Bingtong Wang, Wenlin Fang, Dingjiang Qin, Qiuming He, Chaoting Lan","doi":"10.2147/CEG.S393340","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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 (<i>PCSK2</i>) gene are associated with HSCR. However, the correlation of HSCR in southern Chinese population is still unclear.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>We got an unexpected result, <i>PCSK2</i> SNP rs16998727 was not significantly different from HSCR and its HSCR subtypes: S-HSCR (OR = 1.08, 95% IC: 0.93~1.27, <i>P_adj</i> = 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, <i>P_adj</i> = 0.8001).</p><p><strong>Conclusion: </strong>In summary, we report that rs16998727 (<i>PCSK2</i> and <i>OTOR</i>) is not associated with the risk of HSCR in southern Chinese population.</p>","PeriodicalId":10208,"journal":{"name":"Clinical and Experimental Gastroenterology","volume":"16 ","pages":"59-64"},"PeriodicalIF":2.5000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bd/b5/ceg-16-59.PMC10198172.pdf","citationCount":"0","resultStr":"{\"title\":\"Susceptibility of <i>PCSK2</i> Polymorphism to Hirschsprung Disease in Southern Chinese Children.\",\"authors\":\"Bingtong Wang, Wenlin Fang, Dingjiang Qin, Qiuming He, Chaoting Lan\",\"doi\":\"10.2147/CEG.S393340\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>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 (<i>PCSK2</i>) gene are associated with HSCR. However, the correlation of HSCR in southern Chinese population is still unclear.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>We got an unexpected result, <i>PCSK2</i> SNP rs16998727 was not significantly different from HSCR and its HSCR subtypes: S-HSCR (OR = 1.08, 95% IC: 0.93~1.27, <i>P_adj</i> = 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, <i>P_adj</i> = 0.8001).</p><p><strong>Conclusion: </strong>In summary, we report that rs16998727 (<i>PCSK2</i> and <i>OTOR</i>) is not associated with the risk of HSCR in southern Chinese population.</p>\",\"PeriodicalId\":10208,\"journal\":{\"name\":\"Clinical and Experimental Gastroenterology\",\"volume\":\"16 \",\"pages\":\"59-64\"},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bd/b5/ceg-16-59.PMC10198172.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical and Experimental Gastroenterology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2147/CEG.S393340\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical and Experimental Gastroenterology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2147/CEG.S393340","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}
Susceptibility of PCSK2 Polymorphism to Hirschsprung Disease in Southern Chinese Children.
Introduction: 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.
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