|(A;A)||0||common in clinvar|
This is research done at Washington University in St Louis Missouri. They have discovered a presenilin1 gene variation that appears to increase the Alzheimer's risk of an APO E3/E4 individual to that of an APO E4/E4 individual. They are trying to discover why at least a third of people with Alzheimer's disease do not have the an APO E4 allele, and why some people who are homozygotes for APO E4 do not get the disease. Certain mutations are being discovered (not just this) that may help explain why. Note that these initial studies should be confirmed in other studies.
[PMID 27357204] Did not find any statistically significant association between rs17125721 (E318G) and APOE4, however, study may have been "underpowered".
[PMID 18485326] Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
|Disease||not provided Alzheimer's disease|
|CLNDBN||not provided Alzheimer's disease|
|CLNSRC||ClinVar Neurodegenerative Brain Diseases Group|