Sex-specific genetic predictors of Alzheimer's biomarkers

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SusanJ
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Sex-specific genetic predictors of Alzheimer's biomarkers

Post by SusanJ »

We know women are at higher risk, beyond just the age differences. This one looked for some genetics that tied progression to sex and found a hand full related to CSF Aβ42 and tau.
In Aβ42, we observed sex interactions at one previous and one novel locus: rs316341 within SERPINB1 (p=0.04) and rs13115400 near LINC00290 (p=0.002). These loci showed stronger associations among females (β=−0.03, p=4.25×10−8; β=0.03, p=3.97×10−8) than males (β=−0.02, p=0. 009; β=0.01, p=0.20). Higher levels of expression of SERPINB1, SERPINB6, and SERPINB9 in PFC was associated with higher levels of amyloidosis among females (corrected p-values<0.02) but not males (p>0.38). In total tau, we observed a sex interaction at a previous locus, rs1393060 proximal to GMNC (p=0.004), driven by a stronger association among females (β=0.05, p=4.57×10−10) compared to males (β=0.02, p=0.03). There was also a sex-specific association between rs1393060 and tangle density at autopsy (pfemale=0.047; pmale=0.96), and higher levels of expression of two genes within this locus were associated with lower tangle density among females (OSTN p=0.006; CLDN16 p=0.002) but not males (p≥0.32). Results suggest a female-specific role for SERPINB1 in amyloidosis and for OSTN and CLDN16 in tau pathology.
No indication of what variants are "bad" so feel free to dig deeper if you want to find anything else about these SNPs. Although it is interesting that CLDN16 is associated with hypomagnesemia according to Snpedia.

Here is the quick read and full study
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