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49/100

✓ Peer-reviewed alzhub usefulness score 49 out of 100. Biomarkers

Topic: Brain proteins, microglia and lab models

Background Plasma neurofilament light (NFL) is a promising biomarker for Alzheimer disease (AD), which increases in the early stage of AD and is associated with the progression of AD. We performed a genome-wide association study (GWAS) of plasma NFL in Alzheimer's Disease Neuroimaging Initiative 1 (ADNI-1) cohort to identify novel variants associated with AD. Methods This study included 179 cognitively healthy controls (HC), 176 patients with mild cognitive impairment (MCI), and 172 patients with AD. All subjects were restricted to non-Hispanic Caucasian derived from the ADNI cohort and met all quality control (QC) criteria. Association of plasma NFL with the genetic variants was assessed using PLINK with an additive genetic model, i.e.dose-dependent effect of the minor alleles. The influence of a genetic variant associated with plasma NFL (rs7943454) on brain structure was further assessed using PLINK with a linear regression model. Results The minor allele (T) of rs7943454 in leucine zipper protein 2 gene (LUZP2) was associated with higher plasma NFL at suggestive levels (P = 1.39 × 10 - 6 ) in a dose-dependent fashion. In contrast, the minor allele (G) of rs640476 near GABRB2 was associated with lower plasma NFL at suggestive levels (P = 6.71 × 10 - 6 ) in a dose-dependent effect in all diagnostic groups except the MCI group. Furthermore, the minor allele (T) of rs7943454 within LUZP2 increased the onset risk of AD (odds ratio = 1.547, confidence interval 95% = 1.018-2.351) and was associated with atrophy of right middle temporal gyrus in the whole cohort in the longitudinal study (P = 0.0234). Conclusion GWAS found the associations of two single nucleotide polymorphisms (rs7943454 and rs640476) with plasma NFL at suggestive levels. Rs7943454 in LUZP2 was associated with the onset risk of AD and atrophy of right middle temporal gyrusin the whole cohort. Using an endophenotype-based approach, we identified rs7943454 as a new AD risk locus.

Cite this study APA, Vancouver, BibTeX · download .bib or .ris

APA 7th

Li, J. Q., Yuan, X. Z., Li, H. Y., Cao, X. P., Yu, J. T., Tan, L., et al. (2018). Genome-wide association study identifies two loci influencing plasma neurofilament light levels. BMC medical genomics. https://doi.org/10.1186/s12920-018-0364-8

Vancouver

Li JQ, Yuan XZ, Li HY, Cao XP, Yu JT, Tan L, et al. Genome-wide association study identifies two loci influencing plasma neurofilament light levels. BMC medical genomics. 2018. doi:10.1186/s12920-018-0364-8. PMID: 29747637.

BibTeX

@article{li2018-29747637,
  author  = {Li, J. Q. and Yuan, X. Z. and Li, H. Y. and Cao, X. P. and Yu, J. T. and Tan, L. and Chen, W. A. and {Alzheimer’s Disease Neuroimaging Initiative}},
  title   = {{Genome-wide association study identifies two loci influencing plasma neurofilament light levels}},
  journal = {BMC medical genomics},
  year    = {2018},
  doi     = {10.1186/s12920-018-0364-8},
  pmid    = {29747637},
  url     = {https://doi.org/10.1186/s12920-018-0364-8}
}

Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record names 8 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.

Key findings

Background Plasma neurofilament light (NFL) is a promising biomarker for Alzheimer disease (AD), which increases in the early stage of AD and is associated with the progression of AD.
We performed a genome-wide association study (GWAS) of plasma NFL in Alzheimer's Disease Neuroimaging Initiative 1 (ADNI-1) cohort to identify novel variants associated with AD.
The influence of a genetic variant associated with plasma NFL (rs7943454) on brain structure was further assessed using PLINK with a linear regression model.
Results The minor allele (T) of rs7943454 in leucine zipper protein 2 gene (LUZP2) was associated with higher plasma NFL at suggestive levels (P = 1.39 × 10 - 6 ) in a dose-dependent fashion.
In contrast, the minor allele (G) of rs640476 near GABRB2 was associated with lower plasma NFL at suggestive levels (P = 6.71 × 10 - 6 ) in a dose-dependent effect in all diagnostic groups except the MCI group.

Why it matters

This genome-wide association study found two loci with suggestive associations with plasma neurofilament light levels in the ADNI-1 cohort. It is about the genetics of a biomarker, not a treatment or cure for Alzheimer's disease.

New to this subject? Start with our plain-English guide: Blood tests & biomarkers →

Study details

Study designlongitudinal study
Participants179
Evidence strengthModerate

How this study scored 49/100

Published in a peer-reviewed journal, and it is a longitudinal study following the same people over time. Scored zero for effect reported and randomised / blinded because the record does not state it.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (BMC medical genomics)
Journal's citation record	1 / 4	BMC Medical Genomics: journal h-index 103 (OpenAlex, 2026-10-29)
Study design	7 / 12	A longitudinal study following the same people over time
Strength of evidence	3 / 5	Rated “moderate” in our summary
Peer-review validation	10 / 10	Peer-reviewed. Published as an article in a named peer-reviewed journal.
How recent	2 / 5	2018 — within 10 year(s) of the newest study here
Sample size	2 / 4	179 participants
Effect reported	0 / 3	No effect size reported — scores zero (not stated in the record — scored 0)
Studied in people	3 / 3	Studied in people (participant count stated)
Randomised / blinded	0 / 2	No randomisation or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	3 / 7	Cited 20 times (OpenAlex, 2026-10-10)
Citations per year	1 / 5	2.0 citations a year over 10 year(s) since 2018
Impact for its field and year	2 / 6	Cited 1.6× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	0 / 6	No other study in this library cites it
Still being cited	1 / 4	Cited 3 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	1 / 4	Last-listed author Wei‐An Chen: h-index 11 (OpenAlex, whole career)
Institution's track record	0 / 3	Qingdao University: institution h-index 430 (OpenAlex)
Multi-centre collaboration	2 / 3	OpenAlex lists 4 institution(s) in 1 country
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 29747637)
Free to read	2 / 2	Free to read
Total	49 / 100	—

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