Twins, Tissue, and Time: An Assessment of SNPs and CNVs

P. Scheet, E.A. Ehli, X. Xiao, C.E.M. van Beijsterveldt, A. Abdellaoui, R.R. Althoff, J.J. Hottenga, G. Willemsen, K.A. Nelson, P.E. Huizenga, Y. Hu, C.I. Amos, M. Bartels, M.M. Groen-Blokhuis, E.J.C. de Geus, J.J. Hudziak, G.E. Davies, D.I. Boomsma

Research output: Contribution to JournalArticleAcademicpeer-review


With the desire to assess genetic variation across the lifespan in large-scale collaborative projects, one question is whether inference of copy number (CN) is sensitive to the source of material for deoxyribonucleic acid (DNA) analysis (e.g., blood and buccal) and another question is whether CN is stable as individuals age. Here, we address these questions by applying Affymetrix 6.0 single nucleotide polymorphism (SNP) micro-arrays to 1,472 DNA samples from 710 individuals from the Netherlands Twin Register, including twin and non-twin individuals (372 with buccal and blood derived DNA and 388 with longitudinal data). Similar concordance for CN and genotype inference between samples from the same individual [or from the monozygotic (MZ) co-twins] was found for blood and buccal tissues. There was a small but statistically significant decrease in across-tissue concordance compared with concordance of samples from the same tissue type. No temporal effect was seen on CN variation from the 388 individuals sampled at two time points ranging from 1 to 12 years apart. The majority of our individuals were sampled at age younger than 20 years. Genotype concordance was very high (R
Original languageEnglish
Pages (from-to)737-745
JournalTwin Research and Human Genetics
Issue number6
Publication statusPublished - 2012

Cohort Studies

  • Netherlands Twin Register (NTR)


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