ACE gene variants and sarcoidosis in a Finnish population

Kód výsledku v 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>

Výsledek na webu

<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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Jazyk výsledku

angličtina

Název v původním jazyce

ACE gene variants and sarcoidosis in a Finnish population

Popis výsledku v původním jazyce

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&apos; upstream to the 3&apos; 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&apos; 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.

Název v anglickém jazyce

ACE gene variants and sarcoidosis in a Finnish population

Popis výsledku anglicky

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&apos; upstream to the 3&apos; 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&apos; 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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

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OECD FORD obor

30203 - Respiratory systems

Projekt

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Návaznosti

S - Specificky vyzkum na vysokych skolach

Rok uplatnění

2017

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Sarcoidosis Vasculitis and Diffuse Lung Diseases

ISSN

1124-0490

e-ISSN

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Svazek periodika

34

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

IT - Italská republika

Počet stran výsledku

11

Strana od-do

104-114

Kód UT WoS článku

000408671200001

EID výsledku v databázi Scopus

2-s2.0-85029158262