RGD Reference Report - Disease marker combination enhances patient characterization in the Finnish sarcoidosis patients. - Rat Genome Database

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Disease marker combination enhances patient characterization in the Finnish sarcoidosis patients.

Authors: Lahtela, E  Wolin, A  Pietinalho, A  Lokki, M-L  Selroos, O 
Citation: Lahtela E, etal., Respir Med. 2017 Nov;132:92-94. doi: 10.1016/j.rmed.2017.09.014. Epub 2017 Oct 3.
RGD ID: 40400908
Pubmed: PMID:29229112   (View Abstract at PubMed)
DOI: DOI:10.1016/j.rmed.2017.09.014   (Journal Full-text)

Sarcoidosis is an inflammatory disease of unknown etiology and multiple clinical phenotypes. Clinical manifestations range from asymptomatic disease to severe loss-of-function leading to the hypothesis that sarcoidosis might not be just one disease, but consists of several distinct disease entities each with potentially distinct genetic associations. We have previously demonstrated that in our series HLADRB1* 03:01 and haplotype HLA-DRB1*04:01-DPB1*04:01 are associated with good prognosis sarcoidosis. In our recent work, we found a novel SNP (rs9905945) in the 5'upstream region of the ACE gene to be associated with favorable disease prognosis as well. The main objective of this study was to expand the previous results and analyse combined influence of the found ACE SNP rs9905945 with the protective HLA markers HLADRB1* 03:01 and HLA-DRB1*04:01-DPB1*04:01 in 188 Finnish sarcoidosis patients (resolved disease, n = 90; persistent disease, n = 98). When combining the frequencies of the rs9905945 and of the HLA markers, the strongest association was found for a combination of either/or both HLA markers and rs9905945 for good disease prognosis (37.1% in resolved vs. 11.3% in persistent, p < 0.001, OR = 4.61, (95%CI 2.15-9.86)). In conclusion, we discovered that a combination of the ACE SNP rs9905945 and HLA markers enhance the accuracy for predicting disease course in Finnish sarcoidosis patients further characterizing genetic differences between Finnish sarcoidosis patients with different prognosis.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
ACEHumansarcoidosis severityIAGP DNA:SNP:enhancer:RGD 
AceRatsarcoidosis severityISOACE (Homo sapiens)DNA:SNP:enhancer:RGD 
AceMousesarcoidosis severityISOACE (Homo sapiens)DNA:SNP:enhancer:RGD 


Genes (Rattus norvegicus)
Ace  (angiotensin I converting enzyme)

Genes (Mus musculus)
Ace  (angiotensin I converting enzyme)

Genes (Homo sapiens)
ACE  (angiotensin I converting enzyme)