The role of SMAD3 in the genetic predisposition to papillary thyroid carcinoma.

ABSTRACT:

Purpose

To identify and characterize the functional variants, regulatory gene networks, and potential binding targets of SMAD3 in the 15q22 thyroid cancer risk locus.

Methods

We performed linkage disequilibrium (LD) and haplotype analyses to fine map the 15q22 locus. Luciferase reporter assays were applied to evaluate the regulatory effects of the candidate variants. Knockdown by small interfering RNA, microarray analysis, chromatin immunoprecipitation (ChIP) and quantitative real-time polymerase chain reaction assays were performed to reveal the regulatory gene network and identify its binding targets.

Results

We report a 25.6-kb haplotype within SMAD3 containing numerous single-nucleotide polymorphisms (SNPs) in high LD. SNPs rs17293632 and rs4562997 were identified

SUBMITTER: Wang Y 

PROVIDER: S-EPMC6030507 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature