Disease marker combination enhances patient characterization in the Finnish sarcoidosis patients

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http://hdl.handle.net/10138/298186

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Lahtela , E , Wolin , A , Pietinalho , A , Lokki , M -L & Selroos , O 2017 , ' Disease marker combination enhances patient characterization in the Finnish sarcoidosis patients ' , Respiratory Medicine , vol. 132 , pp. 92-94 . https://doi.org/10.1016/j.rmed.2017.09.014

Title: Disease marker combination enhances patient characterization in the Finnish sarcoidosis patients
Author: Lahtela, E.; Wolin, A.; Pietinalho, A.; Lokki, M. -L.; Selroos, O.
Contributor: University of Helsinki, Medicum
University of Helsinki, Medicum
Date: 2017-11
Language: eng
Number of pages: 3
Belongs to series: Respiratory Medicine
ISSN: 0954-6111
URI: http://hdl.handle.net/10138/298186
Abstract: 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 50upstream 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. (c) 2017 Elsevier Ltd. All rights reserved.
Subject: Angiotensin converting enzyme (ACE)
Human leukocyte antigen (HLA)
Prognosis
Sarcoidosis
CLASS-II
GENE POLYMORPHISMS
MEDICAL PROGRESS
ASSOCIATIONS
CELLS
3121 General medicine, internal medicine and other clinical medicine
3111 Biomedicine
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