ABCA7 p.G215S as potential protective factor for Alzheimer's disease.

Rs3745842 major allele (G) was more frequent in cases compared to controls, although the association was nominally significant after multiple testing correction ( p -value = 1.4 × 10 −3 , corrected p -value = 0.081) ( Supplementary Table 6 ). 3.2 LoF mutations in ABCA7 LoF mutations in ABCA7 have been recently reported as main mechanism explaining the GWAS signal and the increased susceptibility to AD.

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Particularly, we report ABCA7 p.G215S (rs72973581), that was the only low-frequency (MAF = 4.3%) missense variant showing a trend toward significance in the single-marker association test ( p -value = 0.02 and corrected p -value = 0.8) in the discovery set and was statistically significant after Bonferroni correction ( p -value = 6 × 10 −4 and corrected p -value = 0.024) in the combined data sets (discovery set and follow-up data set).

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