Verification of self-report of zygosity determined via DNA testing in a subset of the NAS-NRC twin registry 40 years later.
- Authors
- Reed, Terry; Plassman, Brenda L; Tanner, Caroline M; Dick, Danielle M; Rinehart, Shannon A; Nichols, William C
- Year
- 2005
- Journal
- Twin research and human genetics : the official journal of the International Society for Twin Studies
- PMID
- 16176721
- DOI
- 10.1375/1832427054936763
- PMCID
- PMC1262657
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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