estudo de polimorfismos genéticos do hla (classes i e ii) e do tnf-α em doentes com sarcoidose

Clicks: 289
ID: 201607
2008
Free PDF
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This article has not been analysed, so there is no overall score — reader engagement is measured and shown alongside.
AI Quality Assessment
Not analyzed
Readership in this journal
Steady

Ranked #50 of 210 articles by views in the journal of applied psychology

Most read Least read

Bar heights use a square-root scale. Only the 120 most-read articles are drawn; the journal has 210 in total.

Mint this article as an NFT
Not yet minted

Create a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.

5 SUSD one-off · no wallet required
Sign in to mint
Abstract
Resumo: Introdução: A susceptibilidade genética na ocorrência da sarcoidose é sugerida por alguns factores, nomeadamente pela observação de casos de agregação familiar e a associação da raça a diferentes tipos de incidência e gravidade da doença. Vários estudos têm evidenciado a associação da classe I e especialmente da classe II do sistema HLA com a susceptibilidade à sarcoidose.Objectivos: Estudo dos polimorfismos genéticos da classe I e II do sistema HLA e do TNF-α num grupo de doentes com sarcoidose, nomeadamente a sua influência na susceptibilidade, apresentação clínica e evolução da doença.Material e métodos: Foram incluídos 104 doentes com sarcoidose, tendo sido estudadas a apresentação clínica, funcional, radiológica e os resultados do LBA. Foram usados métodos de biologia molecular na genotipagem do HLA-A*, B*, C*, DRB1*, DQB1* e TNF-α. O ADN foi extraído do sangue periférico e foram usados os métodos PCR-SSP e PCR-reverse hibridization. As frequências alélicas foram comparadas com controlos da mesma região geográfica pelo teste χ2, sendo usado o teste Kruskal-Wallis para variáveis contínuas.Resultados: Comparativamente com os controlos, os doentes incluídos apresentavam frequências aumentadas de: B*08 (10,6% vs 6,1%), OR=1,8, IC=[1,1;3,1], p=0,02; DRB1*12 (4,3% vs 1,7%), OR=2,63, IC=[1,1;6,1], p=0,03. Os doentes com eritema nodoso apresentaram aumento das frequências alélicas de DRB1*03 (28% vs 9,3%), RR=2,39, IC=[1,5;3,8], pc=0,01 e DQB1*02 (38% vs 18%), RR=2,1, IC=[1,3;3,3], pc=0,02. O alelo DQB1*03 está diminuído nos doentes que apresentam síndroma ventilatória obstrutiva, RR=0,53, IC=[0,3;0,9], pc=0,05. O alelo DRB1*15 encontra-se significativamente associado quer à síndroma ventilatória restritiva quer à diminuição da transferência alveolocapilar (21,1% vs 6,6%), RR=2,46, IC=[1,35;4,48], p=0,01 e (18,1% vs 3,8%), RR=1,87, pc=0,05, respectivamente. Por sua vez, o genótipo A/A (high) do TNF-α apresentou uma frequência aumentada (p=0,04) nos doentes com eritema nodoso.Conclusões: Os resultados obtidos adicionam evidência ao facto de, quer a classe I quer a classe II do sistema HLA influenciarem a susceptibilidade, o tipo de apresentação, o grau de gravidade e a evolução na sarcoidose. Por outro lado, o eritema nodoso parece relacionar-se com o genótipo de elevada produção de TNF-α, associação esta já anteriormente descrita.Rev Port Pneumol 2008; XIV (6): 727-746 Abstract: Introduction: Several factors suggest a genetic predisposition to sarcoidosis, namely the recognition of race as a risk factor and the occurrence of familial clustering of cases. Several studies have reported an association of sarcoidosis and HLA class I and especially class II alleles in different populations.Aim: HLA class I, class II and TNF-α genotyping in a group of sarcoidosis patients and its relation with clinical presentation and outcome.Material and methods: A total of 104 sarcoidosis patients were included. Clinical presentation, functional, radiology, BAL findings and organ involvement were studied. HLA– A*, -B*, -C*, DRB1*, DQB1* and TNF-α were genotyped by molecular biology methods. DNA was extracted from peripheral blood and PCR-SSP and PCR-reverse hybridisation methods were used. Allele frequencies were compared with controls from the same region. The X2 test was used for discrete values and the Kruskal-Wallis test for continuous values.Results: When patients were compared with controls we noticed increased frequencies of B*08 (10.6% vs. 6.1%), O.R.=1.8, C.I.=[1.1;3.1], p=0.02; DRB1*12 (4.3% vs. 1.7%), O.R.=2.63, C.I.=[1.1;6.1], p=0.03. Patients with erythema nodosum have increased frequencies of the alleles DRB1*03 (28% vs. 9.3%), R.R.=2.39, C.I.=[1.5;3.8], pc=0.01 and DQB1*02 (38% vs. 18%), R.R.=2.1, C.I.=[1.3;3.3], pc=0.02. Allele DQB1*03 is decreased in patients with obstructive pattern R.R.=0.53, C.I.=[0.3;0.9], pc=0.05. Allele DRB1*15 is related to restrictive pattern and reduced diffusion capacity (21.1% vs. 6.6%), R.R.=2.46, C.I.=[1.35;4.48], p=0.01 and (18.1% vs. 3.8%), R.R.=1.87, pc=0.05 respectively. The TNF-α A/A (high) genotype is significantly associated with erythema nodosum (p=0.04).Conclusions: These data add support to the genetic association of HLA class I and II with sarcoidosis in terms of susceptibility, type of presentation, severity and outcome. Moreover as previously described in other populations, the TNF-α A/A (high) genotype has a significant association with erythema nodosum.Rev Port Pneumol 2008; XIV (6): 727-746 Palavras-chave: Sacordoise, genética, HLA, Key-words: Sarcoidosis, genetics, HLA
ملخص: مقدمة: تشير عدة عوامل إلى وجود استعداد وراثي للإصابة بداء الساركويد، ولا سيما ملاحظة حالات التجمع العائلي وارتباط العِرق باختلاف معدلات وقوع المرض وشدته. وقد أظهرت دراسات متعددة وجود ارتباط بين الصنف الأول، وخاصة الصنف الثاني من نظام مستضد الكريات البيضاء البشرية (HLA)، وقابلية الإصابة بالساركويد. الأهداف: دراسة تعدد الأشكال الجينية للصنفين الأول والثاني من نظام HLA وعامل نخر الورم ألفا (TNF-α) لدى مجموعة من مرضى الساركويد، ولا سيما تأثيرها في قابلية الإصابة، والتظاهر السريري،
Reference Key
morais2008revistaestudo Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;António Morais;Helena Alves;Bruno Lima;Luís Delgado;Ricardo Gonçalves;Sandra Tafulo
Journal the journal of applied psychology
Year 2008
DOI
DOI not found
URL
http://www.sciencedirect.com/science/article/pii/S0873215915302841
Keywords
diseases of the respiratory system genetics sarcoidosis hla

Citations

No citations found. To add a citation, contact the admin at info@scimatic.org

Comments

No comments yet. Be the first to comment on this article.