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Validity of the Zygosity Questionnaire and Characteristics of Zygosity-Misdiagnosed Twin Pairs in the Healthy Twin Study of Korea

Published online by Cambridge University Press:  21 February 2012

Yun-Mi Song
Affiliation:
Department of Family Medicine, Samsung Medical Center, and Center for Clinical Research, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Seoul, Korea.
Dong-Hun Lee
Affiliation:
Complex Disease and Genetic Epidemiology Branch, Department of Epidemiology and Institute of Environment and Health, School of Public Health Seoul National University.
Mi Kyoung Lee
Affiliation:
Complex Disease and Genetic Epidemiology Branch, Department of Epidemiology and Institute of Environment and Health, School of Public Health Seoul National University.
Kayoung Lee
Affiliation:
Department of Family Medicine, Busan Paik Hospital, Inje University College of Medicine, Korea.
Hee Jung Lee
Affiliation:
Department of Biobank, Center for Genome Research, National Institute of Health, Korea.
Eun Jung Hong
Affiliation:
Department of Biobank, Center for Genome Research, National Institute of Health, Korea.
Bokghee Han*
Affiliation:
Department of Biobank, Center for Genome Research, National Institute of Health, Korea. bokghee@korea.kr
Joohon Sung*
Affiliation:
Complex Disease and Genetic Epidemiology Branch, Department of Epidemiology and Institute of Environment and Health, School of Public Health Seoul National University. jsung@snu.ac.kr
*
*Address for correspondence: Bokghee Han, Ph.D. Director, Center for Genome Science, KCDC 194 Tongil-Lo, EunPyung-Gu, Seoul 122-701, R.O. Korea.
*Address for correspondence: Joohon Sung, MD, MPH, PhD. Complex Disease and Genetic Epidemiology Branch, Department of Epidemiology and Institute of Environment and Health, School of Public Health Seoul National University, 28 Yeongeon-Dong, Jongro-Gu, Seoul, Republic of Korea, 110–799.

Abstract

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Determining valid zygosity is a basic and important requirement in a twin study, because misdiagnosing zygosity leads to biased results. The Healthy Twin Study has collected data from adult like-sex twins and their families since 2005. In the study, a questionnaire to determine zygosity was developed comprising four questions; one concerning the degree of resemblance, and three concerning the degree of confusion by the resemblance. Among 2,761 individuals (624 twin pairs) of twin and their families, 406 pairs of twins (mean age 38.3, 63.5% women) with both questionnaire and genotype information were selected to examine the validity of the zygosity questionnaire using 16 short tandem repeat markers. We first determined individual zygosity including undetermined category, and then decided the zygosity of a twin pair using a decision tree. Sensitivity of questionnaire diagnosis was 98.8% for monozygotic (MZ) and 88.9% for dizygotic (DZ) twins, and positive predictive value was 97.2% for MZ and 95.0% for DZ. When we compared correctly and wrongly diagnosed twin pairs, misdiagnosed DZ twins (nine pairs) showed striking similarity in stature or obesity even exceeding that of true MZ twins. Our finding suggests that a parsimonious questionnaire method of diagnosing the zygosity will be useful, and adding physical or physiological measurements to a questionnaire of zygosity diagnosis will either confound the correct diagnosis or reduce the efficiency of the study compared with using questionnaire alone or with introducing genotyping.

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Copyright © Cambridge University Press 2010
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