Association of MAPT haplotypes with Alzheimer's disease risk and MAPT brain gene expression levels.

There was highly significant association of H2-tagging rs8070723-G allele with reduced risk of LOAD in the Mayo Clinic cohort (odds ratio = OR = 0.81, p = 7.0E-4) with remarkably similar OR estimates in the JS and RS series (Additional file 1 : Table S3) and in the independent ADGC cohort (OR = 0.89, p = 1.3E-4) (Table 1 ).

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rs3785883-A allele was also nominally significantly associated with LOAD risk (OR = 1.06, 95% CI = 1.01-1.13, p = 0.034).

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H1c subhaplotype did not achieve significance in the Mayo Clinic, ADGC or Mayo + ADGC cohorts.

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