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P1‐283: Mitochondrial DNA haplogroup, AD incidence, and cognitive function: The Cache County study on memory, health, and aging

Year: 2011
Type: article
Study design: Observational Study
Abstract: Previous findings from case-control studies of Alzheimer's disease (AD) and mitochondrial DNA (mtDNA) haplogroup have identified some significant associations, including higher AD risk among some populations for individuals in haplogroup H. Further examination of AD incidence in tandem with quantitative cognitive phenotypes leading to AD onset may help to refine our understanding of the relationship between haplogroup and AD risk. mtDNA haplogroups were determined for 1009 persons without dementia at baseline from the Cache County Memory Study cohort, comprised almost entirely by individuals of European ancestry. For 284 of these subjects, mtDNA sequences were typed from stored blood samples. Haplogroups for the remaining 768 individuals were imputed based on matrilineages determined from the Utah Population Database (UPDB). Five major mtDNA haplogroups were identified, including H, UK, WIX, U, and JT. Cognition was assessed with the Modified Mini-Mental State Exam (3MS). Linear mixed models examined the effects of haplogroup on average 3MS and rate of 3MS decline, controlling also for APOE genotype, age, gender, and education. Risk for AD was assessed using logistic regression. Of the 968 persons with available mtDNA data, 45.0% were classified in the H haplogroup, 22.1% in JT, 23.9% in UK, 4.0% in V, and 5.0% in WIX. There were no significance differences between haplogroups with respect to gender, age, APOE genotype, or education level. Individuals in haplogroups H, JT, and WIX had significantly greater AD risk relative to UK and V (OR = 1.97, 95% CI = (1.07,3.66), p = 0.04). There was additionally a significant association between mtDNA haplogroup and baseline 3MS (p = 0.02). In adjusted linear mixed models, we found significant overall differences in average 3MS in that individuals classified as H, JT, and WIX had significantly lower 3MS scores over time in comparison to the UK and V haplogroups (p = 0.04), although over the course of study their rates of cognitive decline were not significantly different. In this sample, there was evidence of an association between mtDNA haplogroup and both AD incidence and average cognitive function, although there was not a significant association with rate of cognitive change.
Language: English
Field: Medicine
Open Access status: bronze
OpenAlex ID: W2002373408
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