Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F15%3A%230001041" target="_blank" >RIV/00064190:_____/15:#0001041 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/15:10301832 RIV/61989592:15110/15:33154234 RIV/00064165:_____/15:10301832

Výsledek na webu

<a href="http://dx.doi.org/10.1164/rccm.201503-0418OC" target="_blank" >http://dx.doi.org/10.1164/rccm.201503-0418OC</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1164/rccm.201503-0418OC" target="_blank" >10.1164/rccm.201503-0418OC</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk

Popis výsledku v původním jazyce

Rationale: Genetic variation plays a significant role in the etiology of sarcoidosis. However, only a small fraction of its heritability has been explained so far. Objectives: To define further genetic risk loci for sarcoidosis, we used the Immunochip for a candidate gene association study of immune-associated loci. Methods: Altogether the study population comprised over 19,000 individuals. In a two-stage design, 1,726 German sarcoidosis cases and 5,482 control subjects were genotyped for 128,705 single-nucleotide polymorphisms using the Mumina Immunochip for the screening step. The remaining 3,955 cases, 7,514 control subjects, and 684 parents of affected offspring were used for validation and replication of 44 candidate and two established risk single-nucleotide polymorphisms. Measurements and Main Results: Four novel susceptibility loci were identified with genome-wide significance in the European casecontrol populations, located on chromosomes 12q24.12 (rs653178; ATXN2/SH2B3), 5q33.3 (rs4921492; ILI2B), 4q24 (rs223498; MANBA/NFKB1), and 2q33.2 (rs6748088; FAIVI117B). We further defined three independent association signals in the HLA region with genome-wide significance, peaking in the BTNL2 promoter region (rs5007259), at HLA-B (rs4143332/HLA-B(star)0801) and at HLA-DPBI (rs9277542), and found another novel independent signal near IL23R (rs12069782) on chromosome 1p31.3.

Název v anglickém jazyce

Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk

Popis výsledku anglicky

Rationale: Genetic variation plays a significant role in the etiology of sarcoidosis. However, only a small fraction of its heritability has been explained so far. Objectives: To define further genetic risk loci for sarcoidosis, we used the Immunochip for a candidate gene association study of immune-associated loci. Methods: Altogether the study population comprised over 19,000 individuals. In a two-stage design, 1,726 German sarcoidosis cases and 5,482 control subjects were genotyped for 128,705 single-nucleotide polymorphisms using the Mumina Immunochip for the screening step. The remaining 3,955 cases, 7,514 control subjects, and 684 parents of affected offspring were used for validation and replication of 44 candidate and two established risk single-nucleotide polymorphisms. Measurements and Main Results: Four novel susceptibility loci were identified with genome-wide significance in the European casecontrol populations, located on chromosomes 12q24.12 (rs653178; ATXN2/SH2B3), 5q33.3 (rs4921492; ILI2B), 4q24 (rs223498; MANBA/NFKB1), and 2q33.2 (rs6748088; FAIVI117B). We further defined three independent association signals in the HLA region with genome-wide significance, peaking in the BTNL2 promoter region (rs5007259), at HLA-B (rs4143332/HLA-B(star)0801) and at HLA-DPBI (rs9277542), and found another novel independent signal near IL23R (rs12069782) on chromosome 1p31.3.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FC - Pneumologie

OECD FORD obor

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Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2015

Kód důvěrnosti údajů

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

Název periodika

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

ISSN

1073-449X

e-ISSN

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Svazek periodika

192

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

10

Strana od-do

727-736

Kód UT WoS článku

000361420400015

EID výsledku v databázi Scopus

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