Collection of genomic DNA by buccal swabs for polymerase chain reaction-based biomarker assays.

Walker, A. H. C.; Najarian, Derek; White, David L.; Jaffe, Julie M.; Kanetsky, Peter A.; Rebbeck, Timothy R.

doi:10.1289/ehp.99107517

Cited by 124 publications

(85 citation statements)

References 19 publications

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“…Success rates for posted buccal cytobrush or swab samples for loci of f500 bp have varied from 20.0% to 97.5% (2,5), with our success rate of 62.3% for the 191-bp/487-bp ACE I/D polymorphism lying between these extremes. Some of this variability can be attributed to the differing DNA extraction methods, which can influence DNA yield and genotyping success.…”

Section: Resultsmentioning

confidence: 77%

Buccal DNA Collection: Comparison of Buccal Swabs with FTA Cards

Milne

Bockxmeer

Robertson

et al. 2006

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Collection and analysis of DNA, most commonly from blood or buccal cells, is becoming more common in epidemiologic studies. Buccal samples, which are painless to take and relatively easily collected, are often the preferred source. There are several buccal cell collection methods: swabs, brushes, mouthwash, and treated cards, such as FTA or IsoCode cards. Few studies have systematically compared methods of buccal cell collection with respect to DNA yield and amplification success under similar conditions. We compared buccal DNA collection and amplification using buccal swabs and FTA cards in 122 control subjects from our Australian case-control study of childhood acute lymphoblastic leukaemia. Buccal DNA was quantified using a real-time PCR for B-actin and genotyped at the loci of three polymorphisms (MTHFR 677C>T, ACE I/D, and XPD 1012G>A). PCR was successful with DNA from buccal swabs for 62% to 89% of subjects and from FTA cards for 83% to 100% of subjects, depending on the locus. The matched pair odds ratios (95% confidence interval) comparing success of FTA cards with buccal swabs are as follows: MTHFR 677C>T using PCR-RFLP, 12.5 (11.6-13.5) and using real-time PCR, 130.0 (113.1-152.8); ACE I/D using PCR-amplified fragment length polymorphism, 3.36 (3.2-3.5); XPD 1012G>A using real-time PCR,. FTA cards are a robust DNA collection method and generally produce DNA suitable for PCR more reliably than buccal swabs. There are, however, technical challenges in handling discs punched from FTA cards that intending users should be aware of. (Cancer Epidemiol Biomarkers Prev 2006;15(4):816 -9)

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Section: Resultsmentioning

confidence: 77%

Buccal DNA Collection: Comparison of Buccal Swabs with FTA Cards

Milne

Bockxmeer

Robertson

et al. 2006

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…Subjects swabbed their cheeks with three cotton swabs, followed by a rinse of the mouth with water, after which all contents were placed in a 50-ml sterile conical tube and stored at 4°C until extraction. Genomic DNA was extracted from buccal cells by using a modification of published procedures (48). Before SNP analyses, the concentration of genomic DNA was adjusted to 20 ng/ l. SNP analyses were performed by using an ABI PRISM 7500 instrument (Applied Biosystems, Foster City, CA) using TaqMan chemistry.…”

Section: Discussionmentioning

confidence: 99%

Genetic triple dissociation reveals multiple roles for dopamine in reinforcement learning

Frank

Moustafa²,

Haughey³

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

634

836

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What are the genetic and neural components that support adaptive learning from positive and negative outcomes? Here, we show with genetic analyses that three independent dopaminergic mechanisms contribute to reward and avoidance learning in humans. A polymorphism in the DARPP-32 gene, associated with striatal dopamine function, predicted relatively better probabilistic reward learning. Conversely, the C957T polymorphism of the DRD2 gene, associated with striatal D2 receptor function, predicted the degree to which participants learned to avoid choices that had been probabilistically associated with negative outcomes. The Val/Met polymorphism of the COMT gene, associated with prefrontal cortical dopamine function, predicted participants' ability to rapidly adapt behavior on a trial-to-trial basis. These findings support a neurocomputational dissociation between striatal and prefrontal dopaminergic mechanisms in reinforcement learning. Computational maximum likelihood analyses reveal independent gene effects on three reinforcement learning parameters that can explain the observed dissociations.basal ganglia ͉ prefrontal cortex ͉ computational model

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“…Genetic Analyses: DNA Collection, Extraction, and Storage DNA from cheek swabs was collected and extracted following published procedures (see Freeman et al, 1997;Hutchison, McGeary, Smolen, Bryan, & Swift, 2002;Walker et al, 1999). The BDNF SNP was assayed using a commercially available 5′-nuclease (TaqMan, Roche Molecular Systems, Pleasanton, CA) assay in conjunction with the 7500 thermocycler (Applied Biosystems, Foster City, CA; see Livak, 1999, for description of the TaqMan assay).…”

Section: Rating Of Perceived Exertion (Rpe)-mentioning

confidence: 99%

A transdisciplinary model integrating genetic, physiological, and psychological correlates of voluntary exercise.

Bryan¹,

Hutchison²,

Seals³

et al. 2007

Health Psychology

141

146

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Objective-Physical inactivity contributes to as many as 250,000 premature deaths per year (R. R. Pate et al., 1995). The authors' objective was to test a transdisciplinary model of the ways in which genetic variants, physiological factors, and psychological factors are thought to influence exercise with 64 healthy, regular exercisers.Design-In a within-subjects design, psychological and physiological responses to exercise were compared with responses to a sedentary activity.Main Outcome Measures-The authors measured affective state, perceived exertion, heart rate, and temperature change in response to moderate exercise versus sedentary activity. They also quantified genotypes on a single nucleotide polymorphism in the brain-derived neurotrophic factor (BDNF) gene.Results and Conclusions-The data show a relation between increases in positive affective states and acute exercise behavior, as opposed to a sedentary control. The BDNF gene moderated the effect of exercise on mood, heart rate, and perceived exertion. Physiological factors were, in turn, related to mood response, and mood response was a significant correlate of motivation to exercise in the future and of current exercise behavior. The model has potential as a framework for the basic study of the genetic, physiological, and psychological processes involved with voluntary exercise and as a tool for the applied examination of tailored exercise interventions and their efficacy for different subsets of individuals. Keywords exercise; transdisciplinary; genetics; physiology; mood Regular physical activity has been implicated in the prevention of cardiovascular disease and of a number of cancers including those of the colon, breast, endometrium, and prostate (Friedenreich, 2001;Kaaks & Lukanova, 2002;Pate et al., 1995). Recent reports estimate that approximately 30% of total cancer deaths are related to poor exercise and nutrition, and when taking into consideration both cardiovascular disease and cancer, that inactivity contributes to as many as 250,000 premature deaths per year (Pate et al., 1995). Despite the fact that the relation between poor exercise habits and morbidity and mortality has been well understood for some time, interventions designed to promote a healthier lifestyle have largely failed to One limitation of prior work in this area is the lack of an overarching theoretical framework that functionally links genetic, physiological, and psychological predictors of exercise behavior. In this research, we propose a transdisciplinary (Rosenfield, 1992) model of the ways in which genetic variants, physiological factors, and psychological factors are thought to influence exercise behavior (see Figure 1). In this broad framework, we hypothesized that the physiological effects (e.g., changes in body temperature, heart rate) of exercise influence the subjective experience of exercise (e.g., changes in mood, perceived exertion, perceived reward), which in turn are important determinants of motivation to exercise (e.g., higher selfefficacy for exer...

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Collection of genomic DNA by buccal swabs for polymerase chain reaction-based biomarker assays.

Cited by 124 publications

References 19 publications

Buccal DNA Collection: Comparison of Buccal Swabs with FTA Cards

Buccal DNA Collection: Comparison of Buccal Swabs with FTA Cards

Genetic triple dissociation reveals multiple roles for dopamine in reinforcement learning

A transdisciplinary model integrating genetic, physiological, and psychological correlates of voluntary exercise.

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