Menu
GWAS Study

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.

Opherk C, Gonik M, Duering M et al.

24578207 PubMed ID
GWAS Study Type
466 Participants
Scroll to explore
Chapter I

Publication Details

Comprehensive information about this research publication

Authors

OC
Opherk C
GM
Gonik M
DM
Duering M
MR
Malik R
JE
Jouvent E
HD
Hervé D
AP
Adib-Samii P
BS
Bevan S
PL
Pianese L
SS
Silvestri S
DM
Dotti MT
DS
De Stefano N
LM
Liem M
BE
Boon EM
PF
Pescini F
PC
Pachai C
BL
Bracoud L
MB
Müller-Myhsok B
MT
Meitinger T
RN
Rost N
PL
Pantoni L
LO
Lesnik Oberstein S
FA
Federico A
RM
Ragno M
MH
Markus HS
TE
Tournier-Lasserve E
RJ
Rosand J
CH
Chabriat H
DM
Dichgans M
Chapter II

Abstract

Summary of the research findings

Background and purpose: White matter hyperintensities (WMH) on MRI are a quantitative marker for sporadic cerebral small vessel disease and are highly heritable. To date, large-scale genetic studies have identified only a single locus influencing WMH burden. This might in part relate to biological heterogeneity of sporadic WMH. The current study searched for genetic modifiers of WMH volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a monogenic small vessel disease.

466 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

466
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Italy, Netherlands, Germany, U.K., Spain, France
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

Important Disclaimer: This review has been performed semi-automatically and is provided for informational purposes only. While we strive for accuracy, this analysis may contain errors, omissions, or misinterpretations of the original research. DNA Genics disclaims all liability for any inaccuracies, errors, or consequences arising from the use of this information. Users should independently verify all information and consult original research publications before making any decisions based on this content. This analysis is not intended as a substitute for professional scientific review or medical advice.

Analysis In Progress

Our analysis of this publication is currently being prepared. Please check back soon for comprehensive insights into the health and genetic findings discussed in this research.