Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma.

ABSTRACT:

Purpose

Hyperparathyroidism is the third most common endocrine disease. Parathyroid adenoma (PA) accounts for approximately 85% of cases of primary hyperparathyroidism, but the molecular mechanism is not fully understood. Herein, we aimed to investigate the genetic and transcriptomic profiles of sporadic PA.

Methods

Whole-exome sequencing (WES) and transcriptome sequencing (RNA-seq) of 41 patients with PA and RNA-seq of 5 normal parathyroid tissues were performed. Gene mutations and characterized expression changes were identified. To elucidate the molecular mechanism underlying PA, unsupervised consensus clustering of RNA-seq data was performed. The correlations between the sequencing data and clinicopathological features of these patients were analyzed.

Results

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SUBMITTER: Hu Y 

PROVIDER: S-EPMC8163014 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature