Associations of the MUC5B Promoter Variant with Timing of Interstitial Lung Disease and Rheumatoid Arthritis Onset.
Sign Up to like & getrecommendations! Published in 2022 at "Rheumatology"
DOI: 10.1093/rheumatology/keac152
Abstract: OBJECTIVE To investigate the associations of the common MUC5B promoter variant with timing of RA-associated interstitial lung disease (RA-ILD) and RA onset. METHODS We identified patients with RA meeting 2010 ACR/EULAR criteria and available genotype… read more here.
Keywords: muc5b promoter; disease; promoter variant; lung ... See more keywords
OP0284 Muc5b promoter variant rs35705950 is a risk factor for rheumatoid arthritis – interstitial lung disease
Sign Up to like & getrecommendations! Published in 2018 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2018-eular.4727
Abstract: Background Rheumatoid arthritis–associated interstitial lung disease (RA-ILD) and idiopathic pulmonary fibrosis (IPF) share phenotypic similarities. The gain-of-function MUC5B promoter variant rs35705950 is the strongest risk factor for development of IPF Objectives We hypothesised that rs35705950… read more here.
Keywords: promoter variant; risk; muc5b promoter;
MUC5B promoter variant: genomic fingerprint for early identification of undiagnosed pulmonary fibrosis
Sign Up to like & getrecommendations! Published in 2019 at "Thorax"
DOI: 10.1136/thoraxjnl-2019-214061
Abstract: The rising prevalence of pulmonary fibrosis and its attendant morbidity and mortality burden have spurred a renewed interest in the search for radiographical biomarkers predictive of early and clinically inconspicuous disease.1 The pressing need to… read more here.
Keywords: fibrosis; promoter variant; pulmonary fibrosis; variant genomic ... See more keywords
Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors
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DOI: 10.3390/genes13040644
Abstract: Genetic variants located in non-coding regions can affect processes that regulate protein expression, functionally contributing to human disease. Germline heterozygous mutations in the non-coding region of the PTEN gene have been previously identified in patients… read more here.
Keywords: promoter; promoter variant; breast; variant ... See more keywords