rs12380012 - DELEC1 - U2

Magnitude 2.2 · 1 study on file

Reported associations

  • Evidence of polygenic regulation of the physiological presence of neurofilament light chain in human serum - Unknown journal (n.d.) · Unknown authors · PubMed 36970523

    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 with sNfL. Genotype-specific differences


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