ArticleJournal of Huntington's disease2021
Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease.
Article in Journal of Huntington's disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Genome-Wide Association Studies on the Autosomes and Chromosome X Uncover Genetic Basis of Reproductive Traits in Yorkshire Pigs.Animals : an open access journal from MDPI · 2026Article
- X chromosome-wide association studies in neurological disorders: uncovering the hidden influence of the X chromosome.Frontiers in genetics · 2025Review
- Sex contribution to average age at onset of Huntington's disease depends on the number of (CAG)Scientific reports · 2024Article
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Authors and funding
17 authors at 10 institutions in 3 countries.
Funding
Abstract
backgroundHuntington'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.
objectiveWe performed a complementary association analysis to determine whether variants in the X chromosome modify HD.
methodsWe imputed SNPs on chromosome X for ∼9,000 HD subjects of European ancestry and performed an X chromosome-wide association study (XWAS) to test for association with age-at-onset corrected for inherited CAG repeat length.
resultsIn a mixed effects model XWAS analysis of all subjects (males and females), assuming random X-inactivation in females, no genome-wide significant onset modification signal was found. However, suggestive significant association signals were detected at Xq12 (top SNP, rs59098970; p-value, 1.4E-6), near moesin (MSN), in a region devoid of DNA maintenance genes. Additional suggestive signals not involving DNA repair genes were observed in male- and female-only analyses at other locations.
conclusionAlthough not genome-wide significant, potentially due to small effect size compared to the power of the current study, our data leave open the possibility of modification of HD by a non-DNA repair process. Our XWAS results are publicly available at the updated GEM EURO 9K website hosted at https://www.hdinhd.org/ for browsing, pathway analysis, and data download.
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Registered trials
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