Background: The H1/H2 haplotype on 17q21.31 represent the foremost genetic factor contributing to the risk of progressive supranuclear palsy (PSP). Various structural forms of 17q21.
View Article and Find Full Text PDFBackground: People leverage single-variant association test to systematically evaluate common genetic variants (minor allele frequency 0.5% < [MAF) < 5%) for complex disease, such as Alzheimer's disease (AD). Rare variants (MAF < 1%) could explain additional disease risk and are known to play an important role in the diseases.
View Article and Find Full Text PDFObjective: This study investigates the impact of Titin (TTN) gene mutations on radiotherapy sensitivity in rectum adenocarcinoma (READ) by examining changes in the tumour immune microenvironment.
Methods: Data on gene expression and mutations in READ were obtained from The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) databases. Bioinformatics analysis explored the correlation between TTN mutations and immune cell infiltration.
Arterioscler Thromb Vasc Biol
January 2025