Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378041%3A_____%2F17%3A00480925" target="_blank" >RIV/68378041:_____/17:00480925 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/17:10364004 RIV/00216208:11140/17:10364004 RIV/00064165:_____/17:10364004

Výsledek na webu

<a href="http://dx.doi.org/10.1016/S1474-4422(17)30327-7" target="_blank" >http://dx.doi.org/10.1016/S1474-4422(17)30327-7</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/S1474-4422(17)30327-7" target="_blank" >10.1016/S1474-4422(17)30327-7</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

Popis výsledku v původním jazyce

We identified and replicated 13 new risk loci for restless legs syndrome and confirmed the previously identified six risk loci. MEIS1 was confirmed as the strongest genetic risk factor for restless legs syndrome (odds ratio 1.92, 95% CI 1.85–1.99). Gene prioritisation, enrichment, and genetic correlation analyses showed that identified pathways were related to neurodevelopment and highlighted genes linked to axon guidance (associated with SEMA6D), synapse formation (NTNG1), and neuronal specification (HOXB cluster family and MYT1). Identification of new candidate genes and associated pathways will direct future functional research. Advances in understanding of the molecular mechanisms that underlie restless legs syndrome could lead to new treatment options. We focused on common variants, thus, additional studies are needed to dissect the roles of rare and structural variations.

Název v anglickém jazyce

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

Popis výsledku anglicky

We identified and replicated 13 new risk loci for restless legs syndrome and confirmed the previously identified six risk loci. MEIS1 was confirmed as the strongest genetic risk factor for restless legs syndrome (odds ratio 1.92, 95% CI 1.85–1.99). Gene prioritisation, enrichment, and genetic correlation analyses showed that identified pathways were related to neurodevelopment and highlighted genes linked to axon guidance (associated with SEMA6D), synapse formation (NTNG1), and neuronal specification (HOXB cluster family and MYT1). Identification of new candidate genes and associated pathways will direct future functional research. Advances in understanding of the molecular mechanisms that underlie restless legs syndrome could lead to new treatment options. We focused on common variants, thus, additional studies are needed to dissect the roles of rare and structural variations.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10608 - Biochemistry and molecular biology

Projekt

<a href="/cs/project/LO1503" target="_blank" >LO1503: BIOMEDIC</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2017

Kód důvěrnosti údajů

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

Název periodika

Lancet Neurology

ISSN

1474-4422

e-ISSN

—

Svazek periodika

16

Číslo periodika v rámci svazku

11

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

10

Strana od-do

898-907

Kód UT WoS článku

000412663200012

EID výsledku v databázi Scopus

2-s2.0-85031737266