A two-stage genome-wide association study to identify novel genetic loci associated with acute radiotherapy toxicity in nasopharyngeal carcinoma.

ABSTRACT:

Background

Genetic variants associated with acute side effects of radiotherapy in nasopharyngeal carcinoma (NPC) remain largely unknown.

Methods

We performed a two-stage genome-wide association analysis including a total of 1084 patients, where 319 individuals in the discovery stage were genotyped for 688,783 SNPs using whole genome-wide screening microarray. Significant variants were then validated in an independent cohort of 765 patients using the MassARRAY system. Gene mapping, linkage disequilibrium, genome-wide association analysis, and polygenic risk score were conducted or calculated using FUMA, LDBlockShow, PLINK, and PRSice software programs, respectively.

Results

Five SNPs (rs6711678, rs4848597, rs4848598, rs2091255, and rs584547) showed statistical signific

SUBMITTER: Wang Y 

PROVIDER: S-EPMC9400233 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature