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The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort
Lee JH, Cheng R, Schupf N, Manly J, Lantigua R, Stern Y, Rogaeva E, Wakutani Y et al.. Archives of neurology, 2007-04-01
Topic: Amyloid, tau and blood-test diagnosis
Objective To investigate the association between Alzheimer disease (AD) and variant alleles in SORL1 using a series of single nucleotide polymorphisms (SNPs) in an urban, multiethnic, community-based population. Design We used a nested case-control analysis in a population-based, prospective study of aging and dementia in Medicare recipients, 65 years and older. Setting Northern Manhattan, NY. Participants There were 296 patients with probable AD and 428 healthy, elderly controls. The participants were African American (34%), Caribbean Hispanic (51%), or non-Hispanic white (15%). Main outcome measures We genotyped all 29 SNPs in SORL1 that were examined in the earlier report. We assessed allelic association with AD using standard case-control methods, which included apolipoprotein E genotype as a covariate. Results Several individual SNPs and SNP haplotypes were significantly associated with AD in this prospectively collected community-based cohort, confirming the previously reported positive association of SORL1 with AD. Single nucleotide polymorphism 12, near the 5' region, was associated with AD in African American and Hispanic individuals. Two SNPs in the 3' region were also associated with AD in African American (SNP 26) and non-Hispanic white (SNP 20) individuals. A single haplotype in the 3' region was associated with AD in Hispanic individuals. However, several different haplotypes were associated with AD in African American and white individuals, including the TTC haplotypes at SNPs 23 through 25 (P = .035), which was significantly associated with AD in the North European white individuals in our previous report. Conclusions This study confirms the association between genetic variants in SORL1 and AD. While the associations observed in these data sets overlap with those previously reported, the finding of novel SNP and haplotype associations suggests that there may be extensive allelic heterogeneity in SORL1. Broad regions of the SORL1 gene will therefore need to be scrutinized for functional pathogenic variants.
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APA 7th
Lee, J. H., Cheng, R., Schupf, N., Manly, J., Lantigua, R., Stern, Y., et al. (2007). The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort. Archives of neurology. https://doi.org/10.1001/archneur.64.4.501
Vancouver
Lee JH, Cheng R, Schupf N, Manly J, Lantigua R, Stern Y, et al. The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort. Archives of neurology. 2007. doi:10.1001/archneur.64.4.501. PMID: 17420311.
BibTeX
@article{lee2007-17420311,
author = {Lee, J. H. and Cheng, R. and Schupf, N. and Manly, J. and Lantigua, R. and Stern, Y. and Rogaeva, E. and Wakutani, Y. and others},
title = {{The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort}},
journal = {Archives of neurology},
year = {2007},
doi = {10.1001/archneur.64.4.501},
pmid = {17420311},
url = {https://doi.org/10.1001/archneur.64.4.501}
}
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Key findings
- Results Several individual SNPs and SNP haplotypes were significantly associated with AD in this prospectively collected community-based cohort, confirming the previously reported positive association of SORL1 with AD.
- Single nucleotide polymorphism 12, near the 5' region, was associated with AD in African American and Hispanic individuals.
- Two SNPs in the 3' region were also associated with AD in African American (SNP 26) and non-Hispanic white (SNP 20) individuals.
- A single haplotype in the 3' region was associated with AD in Hispanic individuals.
- However, several different haplotypes were associated with AD in African American and white individuals, including the TTC haplotypes at SNPs 23 through 25 (P = .035), which was significantly associated with AD in the North European white individuals in our previous report.
Why it matters
In this multiethnic community cohort, several individual variants and haplotypes in the SORL1 gene were significantly associated with Alzheimer's disease, confirming a previously reported link. Different variants were associated with Alzheimer's disease in different ethnic groups, so the genetic findings varied by population.
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Study details
- Study designcase-control study
- Participants296
- Evidence strengthModerate
How this study scored 58/100
Published in a peer-reviewed journal, and it is a case-control study. Scored zero for effect reported and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Archives of neurology) |
| Journal's citation record | 3 / 4 | Archives of Neurology: journal h-index 353 (OpenAlex, 2026-10-29) |
| Study design | 6 / 12 | A case-control study |
| 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 | 1 / 5 | 2007 — within 20 year(s) of the newest study here |
| Sample size | 2 / 4 | 296 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 146 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 7.0 citations a year over 21 year(s) since 2007 |
| Impact for its field and year | 4 / 6 | Cited 14.1× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 15 other studies in this library |
| Still being cited | 0 / 4 | Cited 1 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Richard P Mayeux: h-index 158 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Columbia University: institution h-index 1,824 (OpenAlex) |
| Multicenter collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 17420311) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 58 / 100 | — |
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