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Mitochondrial Haplogroup X is associated with successful aging in the Amish

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Abstract

Avoiding disease, maintaining physical and cognitive function, and continued social engagement in long-lived individuals describe successful aging (SA). Mitochondrial lineages described by patterns of common genetic variants (“haplogroups”) have been associated with increased longevity in different populations. We investigated the influence of mitochondrial haplogroups on SA in an Amish community sample. Cognitively intact volunteers aged ≥80 years (n = 261) were enrolled in a door-to-door survey of Amish communities in Indiana and Ohio. Individuals scoring in the top third for lower extremity function, needing little assistance with self-care tasks, having no depression symptoms, and expressing high life satisfaction were considered SA (n = 74). The remainder (n = 187) were retained as controls. These individuals descend from 51 matrilines in a single 13-generation pedigree. Mitochondrial haplogroups were assigned using the ten mitochondrial single nucleotide polymorphisms (mtSNPs) defining the nine most common European haplogroups. An additional 17 mtSNPs from a genome-wide association panel were also investigated. Associations between haplogroups, mtSNPs, and SA were determined by logistic regression models accounting for sex, age, body mass index, and matriline via generalized estimating equations. SA cases were more likely to carry Haplogroup X (OR = 7.56, p = 0.0015), and less likely to carry Haplogroup J (OR = 0.40, p = 0.0003). Our results represent a novel association of Haplogroup X with SA and suggest that variants in the mitochondrial genome may promote maintenance of both physical and cognitive function in older adults.

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Acknowledgments

We would like to thank all participants. This study is supported by the National Institutes of Health grants AG019726 (to WKS) and AG019085 (to JLH and MAP-V). Some of the samples used in this study were collected while WKS, JRG, and MAP-V were faculty members at Duke University.

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL, 33136, USA

    Monique D. Courtenay, John R. Gilbert, Paul J. Gallins, Laura Caywood, Lori Reinhart-Mercer, Jacob L. McCauley, Margaret A. Pericak-Vance & William K. Scott

  2. John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, 33136, USA

    Monique D. Courtenay, John R. Gilbert, Paul J. Gallins, Laura Caywood, Lori Reinhart-Mercer, Jacob L. McCauley, Margaret A. Pericak-Vance & William K. Scott

  3. Center for Human Genetics Research, Vanderbilt University, Nashville, TN, 37240, USA

    Lan Jiang, Anna C. Cummings, Denise Fuzzell, Claire Knebusch, Renee Laux & Jonathan L. Haines

  4. Scott & White, Temple, TX, 76508, USA

    Charles E. Jackson

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  1. Monique D. Courtenay
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Correspondence to William K. Scott.

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Courtenay, M.D., Gilbert, J.R., Jiang, L. et al. Mitochondrial Haplogroup X is associated with successful aging in the Amish. Hum Genet 131, 201–208 (2012). https://doi.org/10.1007/s00439-011-1060-3

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