RESUMO
Background/aim: Sinonasal polyposis is a complex chronic disease displaying contributions from multiple genetic and environmental factors. In this study, we analyzed possible genetic factors that increase susceptibility to this widespread inflammatory disease. Materials and methods: A total of 176 adult patients, including 78 patients with sinonasal polyposis and 98 healthy controls, were analyzed for IL-1RN VNTR, IL-2(-330), and IL-4 VNTR gene polymorphisms using polymerase chain reaction and enzyme restriction. Results: IL-1RN and IL-4 VNTR polymorphisms were notably associated with sinonasal polyposis (P = 0.0001 and P = 0.036, respectively); however, regarding the IL-2(-330) gene polymorphism, no significant difference was shown between the patient and control groups (P = 0.235). Conclusions: Our study indicates that the RN2 allele of IL-1RN and the RP1 allele of IL-4 might be risk factors for developing sinonasal polyposis.
Assuntos
Proteína Antagonista do Receptor de Interleucina 1/genética , Interleucina-2/genética , Interleucina-4/genética , Repetições Minissatélites/genética , Pólipos Nasais/genética , Doenças dos Seios Paranasais/genética , Polimorfismo de Nucleotídeo Único/genética , Rinite/genética , Sinusite/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Estudos de Casos e Controles , Doença Crônica , Feminino , Predisposição Genética para Doença/genética , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemAssuntos
Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Mutação , Fenótipo , Proteínas Repressoras/genética , Proteína 1 Relacionada a Twist/genética , Adolescente , Alelos , Análise Mutacional de DNA , Ecocardiografia , Fácies , Displasias Dérmicas Faciais Focais , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Avaliação de SintomasAssuntos
Proteínas de Ligação a DNA/genética , Face/anormalidades , Doenças Hematológicas/complicações , Mutação/genética , Proteínas de Neoplasias/genética , Tireoidite Autoimune/complicações , Doenças Vestibulares/complicações , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/imunologia , Criança , Feminino , Doenças Hematológicas/genética , Doenças Hematológicas/imunologia , Humanos , Prognóstico , Tireoidite Autoimune/genética , Tireoidite Autoimune/imunologia , Doenças Vestibulares/genética , Doenças Vestibulares/imunologiaRESUMO
Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by obesity, rod-cone dystrophy, postaxial polydactyly, renal abnormalities, genital abnormalities and learning difficulties. To date, mutations in 21 different genes have been described as being responsible for BBS. Recently sequential gene sequencing has been replaced by next generation sequencing (NGS) applications. In this study, 15 patients with clinically diagnosed BBS were investigated using a next generation sequencing panel which included 17 known BBS causing genes (BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, NPHP6, WDPCP, SDCCAG8, NPHP1). A genetic diagnosis was achieved in 13 patients (86.6%) and involved 9 novel and 3 previously described pathogenic variants in 6 of 17 BBS causing genes. BBS10 and BBS1 were the most commonly involved genes with frequencies of 31% and 23% respectively. Three of the 13 patients had an affected sibling. All affected siblings were found to be homozygous for the mutation detected in the proband. No evidence of triallelic inheritance was detected. Although limited association between certain genes and phenotypic features has been observed in this study, it is considered that additional studies are needed to better characterize the genotype-phenotype correlation of BBS. Our results demonstrate that NGS panels are feasible and effective method for providing high diagnostic yields in the diseases caused by multiple genes such as BBS.