ACE gene variants and sarcoidosis in a Finnish population
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F17%3A73578696" target="_blank" >RIV/61989592:15110/17:73578696 - isvavai.cz</a>
Result on the web
<a href="http://www.mattioli1885journals.com/index.php/sarcoidosis/article/view/5504/4168" target="_blank" >http://www.mattioli1885journals.com/index.php/sarcoidosis/article/view/5504/4168</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
ACE gene variants and sarcoidosis in a Finnish population
Original language description
Background: Sarcoidosis is a systemic inflammatory disease with unknown etiology. However, there is a strong evidence of genetic influence in sarcoidosis. Objectives: We wanted to extend our knowledge of the role of the whole ACE gene, not only insertion/deletion (I/D) polymorphism, in a Finnish sarcoidosis population by genotyping the ACE gene region from 5' upstream to the 3' downstream. Methods: We genotyped 29 single nucleotide polymorphisms (SNPs) spanning the ACE gene from 188 sarcoidosis patients (resolved disease, n=90; persistent disease, n=98) and from 150 controls. These SNPs included tag SNP rs4343 for I/D polymorphism. To replicate the study we genotyped 11 of these SNPs from 139 Czech sarcoidosis patients (resolved disease, n= 47; persistent disease, n= 92) and 176 healthy controls. Results: No association was detected between I/D genotypes and disease susceptibility or prognosis. We found a novel SNP (rs9905945) in the 5' upstream region of the ACE gene to be moderately associated with favourable disease prognosis in Finnish patients [p=0.035, OR=2.034 (95% CI 1.045-3.960)]. However, in the replication study in Czechs, the SNP rs9905945 did not show association with prognosis of sarcoidosis. Conclusions: This study further characterizes genetic distinctions between Finnish sarcoidosis patients with different prognosis and population-specific genotype distribution of ACE variants. Nevertheless it seems that variants in the ACE gene do not considerably influence the course of the disease in Finnish sarcoidosis patients.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30203 - Respiratory systems
Result continuities
Project
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Continuities
S - Specificky vyzkum na vysokych skolach
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Sarcoidosis Vasculitis and Diffuse Lung Diseases
ISSN
1124-0490
e-ISSN
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Volume of the periodical
34
Issue of the periodical within the volume
2
Country of publishing house
IT - ITALY
Number of pages
11
Pages from-to
104-114
UT code for WoS article
000408671200001
EID of the result in the Scopus database
2-s2.0-85029158262