Evidence of polygenic regulation of the physiological presence of neurofilament light chain in human serum.

ABSTRACT:

Introduction

The measurement of neurofilament light chain (NfL) in blood is a promising biomarker of neurological injury and disease. We investigated the genetic factors that underlie serum NfL levels (sNfL) of individuals without neurological conditions.

Methods

We performed a discovery genome-wide association study (GWAS) of sNfL in participants of the German BiDirect Study (N = 1,899). A secondary GWAS for meta-analysis was performed in a small Austrian cohort (N = 287). Results from the meta-analysis were investigated in relation with several clinical variables in BiDirect.

Results

Our discovery GWAS identified 12 genomic loci at the suggestive threshold ((p < 1 × 10^-5). After meta-analysis, 7 loci were suggestive of an association

SUBMITTER: Herrera-Rivero M 

PROVIDER: S-EPMC10030935 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature