Publications by authors named "Phil L de Jager"
Previous genome-wide association studies (GWASs) of stroke - the second leading cause of death worldwide - were conducted predominantly in populations of European ancestry. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an independent follow-up in 89,084 additional cases of stroke (30% non-European) and 1,013,843 control individuals, 87% of the primary stroke risk loci and 60% of the secondary stroke risk loci were replicated (P < 0.
View Article and Find Full Text PDFImportance: Compared with non-Hispanic White individuals, African American individuals from the same community are approximately twice as likely to develop Alzheimer disease. Despite this disparity, the largest Alzheimer disease genome-wide association studies to date have been conducted in non-Hispanic White individuals. In the largest association analyses of Alzheimer disease in African American individuals, ABCA7, TREM2, and an intergenic locus at 5q35 were previously implicated.
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- Men with Alzheimer's disease typically die earlier and show more cognitive deficits compared to women, indicating a significant sex difference in the disease's impact.
- Research on genetically modified mice demonstrated that the presence of a second X chromosome provides protective effects against mortality and cognitive deficits associated with Alzheimer's.
- The study indicates that specific genes on the X chromosome may play a role in resilience against Alzheimer's, hinting at the importance of considering sex chromosomes in understanding disease vulnerability.
Article Synopsis
- An amendment to the original paper has been released.
- You can find the amendment through a link provided at the top of the paper.
- This update may contain important changes or additional information related to the original content.
Article Synopsis
- Late-onset Alzheimer's disease (LOAD) is the most common type of dementia and is influenced by genetics.
- Researchers studied a lot of people (94,437) to find specific genes that may increase the risk of developing LOAD, confirming 20 known ones and discovering 5 new ones.
- They also found that certain genetic traits related to the immune system and how the brain processes proteins are linked to a higher risk of LOAD, suggesting there are more rare genes yet to be identified that could also play a role.