Li JQ, et al. - A genome-wide association study (GWAS) was performed using plasma neurofilament light (NFL) as an endophenotype of Alzheimer disease (AD) to investigate genetic factors involved in plasma NFL metabolism based on the association between plasma NFL and AD. For the purpose of this study, 179 cognitively healthy controls (HC), 176 patients with mild cognitive impairment (MCI), and 172 patients with AD were included. According to the findings obtained, GWAS found the associations of two single nucleotide polymorphisms (rs7943454 and rs640476) with plasma NFL at suggestive levels. Data reported that rs7943454 in LUZP2 was associated with the onset risk of AD and atrophy of right middle temporal gyrusin the whole cohort. Rs7943454 was identified as a new AD risk locus using an endophenotype-based approach.