{Reference Type}: Journal Article
{Title}: Integrating apaQTL and eQTL analysis identifies a potential causal variant associated with lung adenocarcinoma risk in the Chinese population.
{Author}: Xu H;Wu Y;Chen Q;Yu Y;Meng Q;Qin N;Zhang W;Tao X;Li S;Tian T;Zhang L;Ma H;Cui J;Chu M;
{Journal}: Commun Biol
{Volume}: 7
{Issue}: 1
{Year}: 2024 Jul 13
{Factor}: 6.548
{DOI}: 10.1038/s42003-024-06502-0
{Abstract}: Alternative polyadenylation (APA) plays a crucial role in cancer biology. Here, we used data from the 3'aQTL-atlas, GTEx, and the China Nanjing Lung Cancer GWAS database to explore the association between apaQTL/eQTL-SNPs and the risk of lung adenocarcinoma (LUAD). The variant T allele of rs277646 in NIT2 is associated with an increased risk of LUAD (OR = 1.12, P = 0.015), lower PDUI values, and higher NIT2 expression. The 3'RACE experiment showed multiple poly (A) sites in NIT2, with the rs277646-T allele causing preferential use of the proximal poly (A) site, resulting in a shorter 3'UTR transcript. This leads to the loss of the hsa-miR-650 binding site, thereby affecting LUAD malignant phenotypes by regulating the expression level of NIT2. Our findings may provide new insights into understanding and exploring APA events in LUAD carcinogenesis.