{"title":"与珐琅质发育缺陷有关的基因多态性：系统综述。","authors":"Aluhê Lopes-Fatturi, Gabriela Fonseca-Souza, Leticia Maira Wambier, João Armando Brancher, Erika Calvano Küchler, Juliana Feltrin-Souza","doi":"10.1111/ipd.13233","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Polymorphisms in genes related to enamel formation and mineralization may increase the risk of developmental defects of enamel (DDE).</p><p><strong>Aim: </strong>To evaluate the existing literature on genetic polymorphisms associated with DDE.</p><p><strong>Design: </strong>This systematic review was registered in the PROSPERO (CRD42018115270). The literature search was performed in PubMed, Scopus, Web of Science, LILACS, BBO, Cochrane Library, and in the gray literature. Observational studies assessing the association between DDE and genetic polymorphism were included. The Newcastle-Ottawa Scale was used to assess the risk of bias.</p><p><strong>Results: </strong>One thousand one hundred and forty-six articles were identified, and 28 met the inclusion criteria. Five studies presented a low risk of bias. Ninety-two genes related to enamel development, craniofacial patterning morphogenesis, immune response, and hormone transcription/reception were included. Molar-incisor hypomineralization (MIH) and/or hypomineralization of primary second molars (HPSM) were associated with 80 polymorphisms of genes responsible for enamel development, immune response, morphogenesis, and xenobiotic detoxication. A significant association was found between the different clinical manifestations of dental fluorosis (DF) with nine polymorphisms of genes responsible for enamel development, craniofacial development, hormonal transcription/reception, and oxidative stress. Hypoplasia was associated with polymorphisms located in intronic regions.</p><p><strong>Conclusion: </strong>MIH, HPSM, DF, and hypoplasia reported as having a complex etiology are significantly associated with genetic polymorphisms of several genes.</p>","PeriodicalId":14268,"journal":{"name":"International journal of paediatric dentistry","volume":" ","pages":""},"PeriodicalIF":2.3000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetic polymorphisms associated with developmental defects of enamel: A systematic review.\",\"authors\":\"Aluhê Lopes-Fatturi, Gabriela Fonseca-Souza, Leticia Maira Wambier, João Armando Brancher, Erika Calvano Küchler, Juliana Feltrin-Souza\",\"doi\":\"10.1111/ipd.13233\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Polymorphisms in genes related to enamel formation and mineralization may increase the risk of developmental defects of enamel (DDE).</p><p><strong>Aim: </strong>To evaluate the existing literature on genetic polymorphisms associated with DDE.</p><p><strong>Design: </strong>This systematic review was registered in the PROSPERO (CRD42018115270). The literature search was performed in PubMed, Scopus, Web of Science, LILACS, BBO, Cochrane Library, and in the gray literature. Observational studies assessing the association between DDE and genetic polymorphism were included. The Newcastle-Ottawa Scale was used to assess the risk of bias.</p><p><strong>Results: </strong>One thousand one hundred and forty-six articles were identified, and 28 met the inclusion criteria. Five studies presented a low risk of bias. Ninety-two genes related to enamel development, craniofacial patterning morphogenesis, immune response, and hormone transcription/reception were included. Molar-incisor hypomineralization (MIH) and/or hypomineralization of primary second molars (HPSM) were associated with 80 polymorphisms of genes responsible for enamel development, immune response, morphogenesis, and xenobiotic detoxication. A significant association was found between the different clinical manifestations of dental fluorosis (DF) with nine polymorphisms of genes responsible for enamel development, craniofacial development, hormonal transcription/reception, and oxidative stress. Hypoplasia was associated with polymorphisms located in intronic regions.</p><p><strong>Conclusion: </strong>MIH, HPSM, DF, and hypoplasia reported as having a complex etiology are significantly associated with genetic polymorphisms of several genes.</p>\",\"PeriodicalId\":14268,\"journal\":{\"name\":\"International journal of paediatric dentistry\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International journal of paediatric dentistry\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/ipd.13233\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"DENTISTRY, ORAL SURGERY & MEDICINE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International journal of paediatric dentistry","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/ipd.13233","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
Genetic polymorphisms associated with developmental defects of enamel: A systematic review.
Background: Polymorphisms in genes related to enamel formation and mineralization may increase the risk of developmental defects of enamel (DDE).
Aim: To evaluate the existing literature on genetic polymorphisms associated with DDE.
Design: This systematic review was registered in the PROSPERO (CRD42018115270). The literature search was performed in PubMed, Scopus, Web of Science, LILACS, BBO, Cochrane Library, and in the gray literature. Observational studies assessing the association between DDE and genetic polymorphism were included. The Newcastle-Ottawa Scale was used to assess the risk of bias.
Results: One thousand one hundred and forty-six articles were identified, and 28 met the inclusion criteria. Five studies presented a low risk of bias. Ninety-two genes related to enamel development, craniofacial patterning morphogenesis, immune response, and hormone transcription/reception were included. Molar-incisor hypomineralization (MIH) and/or hypomineralization of primary second molars (HPSM) were associated with 80 polymorphisms of genes responsible for enamel development, immune response, morphogenesis, and xenobiotic detoxication. A significant association was found between the different clinical manifestations of dental fluorosis (DF) with nine polymorphisms of genes responsible for enamel development, craniofacial development, hormonal transcription/reception, and oxidative stress. Hypoplasia was associated with polymorphisms located in intronic regions.
Conclusion: MIH, HPSM, DF, and hypoplasia reported as having a complex etiology are significantly associated with genetic polymorphisms of several genes.
期刊介绍：
The International Journal of Paediatric Dentistry was formed in 1991 by the merger of the Journals of the International Association of Paediatric Dentistry and the British Society of Paediatric Dentistry and is published bi-monthly. It has true international scope and aims to promote the highest standard of education, practice and research in paediatric dentistry world-wide.
International Journal of Paediatric Dentistry publishes papers on all aspects of paediatric dentistry including: growth and development, behaviour management, diagnosis, prevention, restorative treatment and issue relating to medically compromised children or those with disabilities. This peer-reviewed journal features scientific articles, reviews, case reports, clinical techniques, short communications and abstracts of current paediatric dental research. Analytical studies with a scientific novelty value are preferred to descriptive studies. Case reports illustrating unusual conditions and clinically relevant observations are acceptable but must be of sufficiently high quality to be considered for publication; particularly the illustrative material must be of the highest quality.
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