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Alzheimer's & Dementia: Multigene score predicts the risk of Alzheimer's disease in APOE ε4 carriers with extreme phenotypes

 Last Update: 2021-08-14
 Source: Internet
 Author: User

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Alzheimer's disease (AD) has a strong underlying genetic factor

Although the risk of AD is high, people have realized that there is considerable phenotypic diversity among APOE ε4 homotypes, from early-onset AD to life-long no symptoms of cognitive impairment

There is considerable phenotypic diversity among APOE ε4 homotypes, ranging from early-onset AD to lifelong symptoms without cognitive impairment .

Using data from a large-scale AD-related genome-wide association study ( GWAS ), researchers developed a polygenic risk score (PRS) and used it to predict the risk of AD

GWAS diagnosis

Researchers evaluated the polygenic risk score (PRS) between cognitively healthy APOE ε4 isotypes (n = 213) aged ≥75 years and early-onset APOE ε4 isotype AD cases (n = 223) aged ≤65 years.

The density map shows the difference in the distribution of polygenic risk scores between the case and the control group at the extremes of lipoprotein E (APOE)ε4/ε4 and APOEε3/ε3 extremes

The density map shows the difference in the distribution of polygenic risk scores between the case and the control group at the extreme lipoprotein E (APOE) ε4/ε4 and APOEε3/ε3 extreme.

APOE ε4 same type AD cases have significantly higher PRS APOE ε4 same type AD cases have significantly higher PRS APOE ε3/ε3 similar PRS differences between extreme phenotypes are not so obvious APOE ε3/ε3 similar PRS differences between extreme phenotypes No difference Then there is no statistical difference in education level PRS, there is no statistical difference in education level PRS

In short, the PRS of AD helps to change our perception of the extreme risk phenotype of APOE ε4/ε4 genotype

Original source:

Aamira J.

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