AD Genomics Manuscripts: Difference between revisions
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{{Article|Raghavan, et al. Mayeux, The Alzheimer's Disease Sequencing Project|2018|Annals of Clinical and Translational Neurology • [http://bradleymonk.com/w/images/b/b8/Raghavan2018.pdf PDF]|30009200|Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.}} <br> | {{Article|Raghavan, et al. Mayeux, The Alzheimer's Disease Sequencing Project|2018|Annals of Clinical and Translational Neurology • [http://bradleymonk.com/w/images/b/b8/Raghavan2018.pdf PDF]|30009200|Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.}} <br> | ||
Note: The ADSP was an author on this paper. | |||
<big>Summary</big> | <big>Summary</big> | ||
Using the ADSP dataset, the goal was to identify the frequency and impact of rare and ultra‐rare variants in Alzheimer's disease, using whole‐exome sequencing in 20,197 individuals. | |||
They identified 19 cases carrying extremely rare {{Gene|SORL1}} loss‐of‐function variants among a collection of 6,965 cases and a single loss‐of‐function variant among 13,252 controls (P = 2e10−8; OR: 36.2 [95% CI: 5.8–1493.0]). Age‐at‐onset was 7 years earlier for patients with SORL1 qualifying variant compared with noncarriers. | They identified 19 cases carrying extremely rare {{Gene|SORL1}} loss‐of‐function variants among a collection of 6,965 cases and a single loss‐of‐function variant among 13,252 controls (P = 2e10−8; OR: 36.2 [95% CI: 5.8–1493.0]). Age‐at‐onset was 7 years earlier for patients with SORL1 qualifying variant compared with noncarriers. | ||
No other gene attained a study‐wide level of statistical significance, but multiple top‐ranked genes, including GRID2IP,WDR76 and GRN, were among candidates for follow‐up studies. | No other gene attained a study‐wide level of statistical significance, but multiple top‐ranked genes, including {{Gene|GRID2IP}}, {{Gene|WDR76}} and {{Gene|GRN}}, were among candidates for follow‐up studies. | ||
Latest revision as of 20:22, 23 October 2018
Raghavan 2008
Raghavan, et al. Mayeux, The Alzheimer's Disease Sequencing Project • 2018 • Annals of Clinical and Translational Neurology • PDF
Note: The ADSP was an author on this paper.
Summary
Using the ADSP dataset, the goal was to identify the frequency and impact of rare and ultra‐rare variants in Alzheimer's disease, using whole‐exome sequencing in 20,197 individuals.
They identified 19 cases carrying extremely rare SORL1 loss‐of‐function variants among a collection of 6,965 cases and a single loss‐of‐function variant among 13,252 controls (P = 2e10−8; OR: 36.2 [95% CI: 5.8–1493.0]). Age‐at‐onset was 7 years earlier for patients with SORL1 qualifying variant compared with noncarriers.
No other gene attained a study‐wide level of statistical significance, but multiple top‐ranked genes, including GRID2IP, WDR76 and GRN, were among candidates for follow‐up studies.