Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease.

ABSTRACT:

Background

Huntington's disease (HD) is caused by an expanded (>35) CAG trinucleotide repeat in huntingtin (HTT). Age-at-onset of motor symptoms is inversely correlated with the size of the inherited CAG repeat, which expands further in brain regions due to somatic repeat instability. Our recent genetic investigation focusing on autosomal SNPs revealed that age-at-onset is also influenced by genetic variation at many loci, the majority of which encode genes involved in DNA maintenance/repair processes and repeat instability.

Objective

We performed a complementary association analysis to determine whether variants in the X chromosome modify HD.

Methods

We imputed SNPs on chromosome X for ∼9,000 HD subjects of European ancestry and performed an X chromosome-wide associa

SUBMITTER: Hong EP 

PROVIDER: S-EPMC8860147 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature