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• W2322347474 abstract "<h3>Objective</h3> To classify the patterns of functional decline in patients with sporadic amyotrophic lateral sclerosis (ALS) and explore the genetic backgrounds that modified these patterns. <h3>Methods</h3> We included 465 patients with sporadic ALS in the analysis and clustered the longitudinal functional scores in the registered patients, using a mixture approach of a non-linear mixed-effects model. We conducted a genome-wide analysis of 572 983 single nucleotide polymorphisms (SNPs). We then assessed the association between the clusters of longitudinal functional scores and SNPs. <h3>Results</h3> We identified the following four clusters of longitudinal functional decline in the cases: a rapid decline cluster, an intermediate decline cluster, a sigmoidal decline cluster and a moderate decline cluster. We identified seven SNPs associated with the rapid decline cluster, using a recessive model (p=3.47–8.34×10⁻⁸). The OR for the probabilities of the rapid decline cluster ranged from 5.5 to 5.84. Homozygosity for the minor alleles in the seven SNPs, which constituted a linkage disequilibrium (LD) block, was associated with decreased expression of <i>TTN</i> (encoding Titin, a large sarcomere protein) in the expression quantitative trait loci database of a large-scale Japanese genetic variation database (p=8.6×10⁻¹⁰–1.1×10⁻⁷). <i>TTN</i> expression in immortalised lymphocyte lines was decreased in patients who were homozygous for the minor alleles compared with those who were homozygous for the major alleles (n=19 in each group, p=0.002). <h3>Conclusions</h3> We detected an LD block associated with a rapid functional decline in patients with sporadic ALS, which is linked to decreased expression of <i>TTN</i>." @default.
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• W2322347474 date "2016-01-08" @default.
• W2322347474 modified "2023-09-30" @default.
• W2322347474 title "A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of<i>TTN</i>" @default.
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• W2322347474 doi "https://doi.org/10.1136/jnnp-2015-311541" @default.
• W2322347474 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26746183" @default.
• W2322347474 hasPublicationYear "2016" @default.
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