X-chromosome-wide association study for Alzheimer's disease

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F25%3A10488422" target="_blank" >RIV/00064203:_____/25:10488422 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/25:10488422

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=YU1.bqsZbp" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=YU1.bqsZbp</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/s41380-024-02838-5" target="_blank" >10.1038/s41380-024-02838-5</a>

Jazyk výsledku

angličtina

Název v původním jazyce

X-chromosome-wide association study for Alzheimer's disease

Popis výsledku v původním jazyce

Due to methodological reasons, the X-chromosome has not been featured in the major genome-wide association studies on Alzheimer&apos;s Disease (AD). To address this and better characterize the genetic landscape of AD, we performed an in-depth X-Chromosome-Wide Association Study (XWAS) in 115,841 AD cases or AD proxy cases, including 52,214 clinically-diagnosed AD cases, and 613,671 controls. We considered three approaches to account for the different X-chromosome inactivation (XCI) states in females, i.e. random XCI, skewed XCI, and escape XCI. We did not detect any genome-wide significant signals (P &lt;= 5 x 10(-)(8)) but identified seven X-chromosome-wide significant loci (P &lt;= 1.6 x 10(-)(6)). The index variants were common for the Xp22.32, FRMPD4, DMD and Xq25 loci, and rare for the WNK3, PJA1, and DACH2 loci. Overall, this well-powered XWAS found no genetic risk factors for AD on the non-pseudoautosomal region of the X-chromosome, but it identified suggestive signals warranting further investigations.

Název v anglickém jazyce

X-chromosome-wide association study for Alzheimer's disease

Popis výsledku anglicky

Due to methodological reasons, the X-chromosome has not been featured in the major genome-wide association studies on Alzheimer&apos;s Disease (AD). To address this and better characterize the genetic landscape of AD, we performed an in-depth X-Chromosome-Wide Association Study (XWAS) in 115,841 AD cases or AD proxy cases, including 52,214 clinically-diagnosed AD cases, and 613,671 controls. We considered three approaches to account for the different X-chromosome inactivation (XCI) states in females, i.e. random XCI, skewed XCI, and escape XCI. We did not detect any genome-wide significant signals (P &lt;= 5 x 10(-)(8)) but identified seven X-chromosome-wide significant loci (P &lt;= 1.6 x 10(-)(6)). The index variants were common for the Xp22.32, FRMPD4, DMD and Xq25 loci, and rare for the WNK3, PJA1, and DACH2 loci. Overall, this well-powered XWAS found no genetic risk factors for AD on the non-pseudoautosomal region of the X-chromosome, but it identified suggestive signals warranting further investigations.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30101 - Human genetics

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2025

Kód důvěrnosti údajů

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

Název periodika

Molecular Psychiatry

ISSN

1359-4184

e-ISSN

1476-5578

Svazek periodika

30

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

12

Strana od-do

2335-2346

Kód UT WoS článku

001426070300001

EID výsledku v databázi Scopus

2-s2.0-85211480840