title: Relative Telomere Repeat Mass in Buccal and Leukocyte-Derived DNA.
abstract: Telomere length has garnered interest due to the potential role it may play as a biomarker for the cellular aging process. Telomere measurements obtained from blood-derived DNA are often used in epidemiological studies. However, the invasive nature of blood draws severely limits sample collection, particularly with children. Buccal cells are commonly sampled for DNA isolation and thus may present a non-invasive alternative for telomere measurement. Buccal and leukocyte derived DNA obtained from samples collected at the same time period were analyzed for telomere repeat mass (TRM). TRM was measured in buccal-derived DNA samples from individuals for whom previous TRM data from blood samples existed. TRM measurement was performed by qPCR and was normalized to the single copy 36B4 gene relative to a reference DNA sample (K562). Correlations between TRM from blood and buccal DNA were obtained and also between the same blood DNA samples measured in separate laboratories. Using the classical twin design, TRM heritability was estimated (N = 1892, MZ = 1044, DZ = 775). Buccal samples measured for TRM showed a significant correlation with the blood-1 (R = 0.39, p < 0.01) and blood-2 (R = 0.36, p < 0.01) samples. Sex and age effects were observed within the buccal samples as is the norm within blood-derived DNA. The buccal, blood-1, and blood-2 measurements generated heritability estimates of 23.3%, 47.6% and 22.2%, respectively. Buccal derived DNA provides a valid source for the determination of TRM, paving the way for non-invasive projects, such as longitudinal studies in children.
authors.affiliation: Avera Institute for Human Genetics, Avera McKennan Hospital & University Health Center, Sioux Falls, South Dakota, United States of America.
authors.forename: Casey T
authors.initials: CT
authors.lastname: Finnicum
authors.affiliation: Department of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands.
authors.forename: Conor V
authors.initials: CV
authors.lastname: Dolan
authors.affiliation: Department of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands.
authors.forename: Gonneke
authors.initials: G
authors.lastname: Willemsen
authors.affiliation: Avera Institute for Human Genetics, Avera McKennan Hospital & University Health Center, Sioux Falls, South Dakota, United States of America.
authors.forename: Zachary M
authors.initials: ZM
authors.lastname: Weber
authors.affiliation: Avera Institute for Human Genetics, Avera McKennan Hospital & University Health Center, Sioux Falls, South Dakota, United States of America.
authors.forename: Jason L
authors.initials: JL
authors.lastname: Petersen
authors.affiliation: Avera Institute for Human Genetics, Avera McKennan Hospital & University Health Center, Sioux Falls, South Dakota, United States of America.
authors.forename: Jeffrey J
authors.initials: JJ
authors.lastname: Beck
authors.affiliation: Department of Cardiovascular Sciences, University of Leicester, Leicester, United Kingdom.
authors.forename: Veryan
authors.initials: V
authors.lastname: Codd
authors.affiliation: Avera Institute for Human Genetics, Avera McKennan Hospital & University Health Center, Sioux Falls, South Dakota, United States of America.|Department of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands.
authors.forename: Dorret I
authors.initials: DI
authors.lastname: Boomsma
authors.affiliation: Avera Institute for Human Genetics, Avera McKennan Hospital & University Health Center, Sioux Falls, South Dakota, United States of America.|Department of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands.
authors.forename: Gareth E
authors.initials: GE
authors.lastname: Davies
authors.affiliation: Avera Institute for Human Genetics, Avera McKennan Hospital & University Health Center, Sioux Falls, South Dakota, United States of America.
authors.forename: Erik A
authors.initials: EA
authors.lastname: Ehli
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002648:Child; D004247:DNA / Q000235:genetics* / Q000302:isolation & purification; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D006801:Humans; D020014:K562 Cells; D007963:Leukocytes, Mononuclear / Q000737:chemistry / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D009061:Mouth Mucosa / Q000737:chemistry / Q000378:metabolism*; D060888:Real-Time Polymerase Chain Reaction; D012015:Reference Standards; D012737:Sex Factors; D035781:Siblings; D016615:Telomere / Q000737:chemistry*; D014429:Twins, Dizygotic; D014430:Twins, Monozygotic
chemical_list: D017931:DNA Primers; D004247:DNA