Next-generation sequencing of mitochondrial DNA reveals pathogenic variants and protective haplogroup D4 in esophageal cancer.

ABSTRACT:

Introduction

The germline variations in the mitochondrial genome of esophageal cancer (EC) remain uncertain. Our study aimed to explore the distribution and pathogenicity of mitochondrial genome variations in EC, as well as to identify haplogroups associated with the development of EC.

Methods

We performed next-generation sequencing of the mitochondrial genomes from peripheral blood samples of 146 EC patients and 120 healthy controls. Variant annotation was performed using MitoMap, while pathogenicity prediction was conducted through tools such as MitoTip, SIFT, and PolyPhen2. Moreover, haplogroup classification was carried out using the Haplogrep3 platform.

Results

A total of 1299 mitochondrial variants were identified among 146 EC patients, including 171 novel (prev

SUBMITTER: Jiang X 

PROVIDER: S-EPMC12497592 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature