WDR12 and HIVEP3 are Contributors to Cognitive Preservation in Amish SuperAgers

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Abstract INTRODUCTION Cognitive SuperAgers (SA) are individuals aged 80+ with exceptional episodic memory performance for their age, exceeding middle-aged adult norms. This study integrates family- and association-based methods to identify genetic variants associated with SA in the Midwestern Amish population. METHODS 83 Amish SA were grouped into 16 pedigrees for parametric and non-parametric linkage analysis. Variants in linked regions (HLOD/LOD*≥3) were tested for association with SA using two contrasts: SA vs. Alzheimer’s disease (AD; n=40), and SA vs. cognitively unimpaired (CU), age-matched non-SA individuals (CU80+; n=157). RESULTS Evidence of linkage for SA was observed on chromosomes 1, 2, 7, 16, and 20, with the strongest signal around the AD-associated locus WDR12 on chromosome 2. Association analysis for SA vs. AD identified eight variants in HIVEP3 (chromosome 1) that were nominally significant when comparing SA vs. CU80+. DISCUSSION WDR12 and HIVEP3 are potential candidate genes contributing to SA in the Amish population.

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