Loading...
Publication
Polimorfismos mais comuns associados ao aparecimento de fissuras labiopalatinas não sindrómicas
| Name: | Description: | Size: | Format: | |
|---|---|---|---|---|
| PPG_38833 | 454.76 KB | Adobe PDF |
Authors
Advisor(s)
Abstract(s)
As Fissuras Labio Palatinas não sindrómicas (FLPns) são as malformações craniofaciais
com maior incidência na população mundial e têm uma forte componente genética e
ambiental. Os estudos da genética da era do GWAS têm conseguido relacionar diversos
polimorfismos com o aparecimento de FLPns. Contudo, persiste alguma controvérsia,
devido a alguns resultados contraditórios possivelmente associados a variações
populacionais e/ou estudos em populações com várias patologias agrupadas.
O objetivo desta revisão bibliográfica foi identificar os polimorfismos de nucleótido
único (SNP) mais frequentemente associados ao aparecimento das FLPns. Foi realizada
uma pesquisa através da base de dados da Pubmed e Science Direct, onde foram
encontrados 45 artigos nos últimos 5 anos e analisados os SNP aí evidenciados. Os
polimorfismos rs2235371, rs12532, rs6446693, rs642961, rs17563 e rs2268625 foram os
mais citados por diversos autores em populações da Ásia, Europa, América Latina e
Medio Oriente. Estudos em modelos animais têm também identificado vários SNP e cuja
associação a FLPns foi posteriormente confirmada no Homem.
Pode-se então concluir que, devido ao processo complexo de desenvolvimento
craniofacial mediado e coordenado por uma multitude de genes, é preciso entender o
funcionamento dos mesmos, bem como a relação entre si, para assim compreender os
fatores que podem ou não influenciar o aparecimento de FLPns. No entanto, são
necessários mais estudos para esclarecer as discrepâncias entre os vários autores.
Non-syndromic cleft lip and palatal (NsCLP) are the craniofacial malformations with the highest incidence in global populations which have a strong genetic and environmental component. Genome-wide association studies (GWAS) have shown an association between some SNP’s and NsCLP. Hwever some controversy remains fuelled by contradictory results possibly associated with population diversity and/or studies with mixed pathology patients. The present work aims at identify and discuss the most often found NsCLP associated SNP’s in papers referenced in Pubmed and Science Direct bibliographic and published in the last 5 years. SNP’s rs2235371, rs12532, rs6446693, rs642961, rs17563 and rs2268625 were identified as the most often identified associated with Human NsCLP in Asian, European, Latin-American and Meddle East populations. Animal models have also provided several SNP influencing cranio-maxilar development and some of these have been also found associated to Human NsCLP. In conclusion, due to the complex process of the craniofacial development mediated and coordinated by multiple genes, it is mandatory to understand the functioning and relationship between them to thoroughly discern wish are the factors that could influence in the NsCLP development. However more studies are needed to clarify the discrepancies sometimes observed between studies.
Non-syndromic cleft lip and palatal (NsCLP) are the craniofacial malformations with the highest incidence in global populations which have a strong genetic and environmental component. Genome-wide association studies (GWAS) have shown an association between some SNP’s and NsCLP. Hwever some controversy remains fuelled by contradictory results possibly associated with population diversity and/or studies with mixed pathology patients. The present work aims at identify and discuss the most often found NsCLP associated SNP’s in papers referenced in Pubmed and Science Direct bibliographic and published in the last 5 years. SNP’s rs2235371, rs12532, rs6446693, rs642961, rs17563 and rs2268625 were identified as the most often identified associated with Human NsCLP in Asian, European, Latin-American and Meddle East populations. Animal models have also provided several SNP influencing cranio-maxilar development and some of these have been also found associated to Human NsCLP. In conclusion, due to the complex process of the craniofacial development mediated and coordinated by multiple genes, it is mandatory to understand the functioning and relationship between them to thoroughly discern wish are the factors that could influence in the NsCLP development. However more studies are needed to clarify the discrepancies sometimes observed between studies.
Description
Keywords
Polimorfismo Mutação Fissura labial Fissura do palato Não sindrómicas Polimorphism Mutation Cleftlip Cleftpalate Nonsyndromic