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Polymorphisms and haplotypes of TOLLIP and MUC5B are associated with susceptibi...

Mota, P.C.; Soares, M.L.; Ferreira, A.C.; F. Santos, Rita; Cavaleiro Rufo, J; Vasconcelos, D.; Carvalho, A.; Guimarães, S.; Vasques-Novo, F.

Hypersensitivity pneumonitis (HP) is an interstitial lung disease with diverse clinical features that can present a fibrotic phenotype similar to idiopathic pulmonary fibrosis (IPF) in genetically predisposed individuals. While several single nucleotide polymorphisms (SNPs) have been associated with IPF, the genetic factors contributing to fibrotic HP (fHP) remain poorly understood. This study investigated the ...


Associations between sarcoidosis clinical course and ANXA11 rs1049550 C/T, BTNL...

Morais, A.; Lima, B.; Alves, H.; Melo, N.; Mota, P.C.; Marques, A.; Delgado, L.

Background: A genetic background may be responsible for the different clinical courses in sarcoidosis. We analyzed associations between sarcoidosis clinical course and HLA class I/II alleles and susceptibility gene SNPs ANXA11 rs1049550 C/T and BTNL2 rs2076530 G/A in a Portuguese population, investigating possible gene–gene interactions. Methods: We studied 138 unrelated Caucasian sarcoidosis patients (78 women...


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