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Verification of Self-Report of Zygosity Determined via DNA Testing in a Subset of the NAS-NRC Twin Registry 40 Years Later

  • Terry Reed (a1), Brenda L. Plassman (a2), Caroline M. Tanner (a3), Danielle M. Dick (a4), Shannon A. Rinehart (a5) and William C. Nichols (a6)...

Abstract

The National Academy of Sciences — National Research Council (NAS-NRC) twin panel, created nearly 50 years ago, had twin zygosity determined primarily via a similarity questionnaire that has been estimated to correctly classify at least 95% of twins. In the course of a study on the genetics of healthy ageing in the NAS-NRC twins, DNA was collected for genome-wide scanning and zygosity confirmation was examined in 343 participating pairs. The sample was supplemented from two other studies using NAS-NRC twins where one or both co-twins were suspected to have Alzheimer disease or another dementia, or Parkinson's disease. Overall 578 twin pairs with DNA were analyzed. Zygosity assignment for 96.8% (519/536) was confirmed via questionnaire. Among 42 pairs whose questionnaire responses were inconclusive for assigning zygosity, 50% were found to be monozygous (MZ) and 50% were dizygous (DZ). There was some evidence for greater misclassification of presumed DZ pairs in the healthy ageing study where participation favored pairs who were similar in having a favorable health history and willingness to volunteer without any element of perceived risk for a specific disease influencing participation.

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Copyright

Corresponding author

*Address for correspondence: Terry Reed, PhD, Department of Medical & Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, IB – 130, Indianapolis, IN 46202, USA.

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1 Now at Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri, United States of America

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