ArticleBMC medical genomics2016
Saliva DNA quality and genotyping efficiency in a predominantly elderly population.
Article in BMC medical genomics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 37 citations in OpenAlex.
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- Pre-sampling conditions affect salivary genomic DNA yield and human DNA fraction: a single-donor pilot study.Genomics & informatics · 2026Article
- Exploring the genetic landscape of COVID-19 susceptibility and severity among patients in Türkiye.BMC medical genomics · 2025Article
- Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analyses.BMC genomics · 2024Article
- Pre-Analytical Factors Affecting Extracellular DNA in Saliva.Diagnostics (Basel, Switzerland) · 2024Article
- Prevalence and factors associated with optic disc grey crescent in the Primary Open-Angle African Ancestry Glaucoma Genetics (POAAGG) Study.BMJ open ophthalmology · 2023Article
- The significance of amelogenin loci from toothpicks as forensic evidence for sex determination.Journal of Taibah University Medical Sciences · 2023Article
- Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.BMC medical genomics · 2022Article
- Recruitment strategies and lessons learned from a large genetic study of African Americans.PLOS global public health · 2022Article
- Article
- The Role of Genetic Ancestry as a Risk Factor for Primary Open-angle Glaucoma in African Americans.Investigative ophthalmology & visual science · 2021Article
- Spectral fingerprinting to evaluate effects of storage conditions on biomolecular structure of filter-dried saliva samples and recovered DNA.Scientific reports · 2020Article
- Contaminating DNA in human saliva alters the detection of variants from whole genome sequencing.Scientific reports · 2020Article
- Article
- The Identification of Admixture Patterns Could Refine Pharmacogenetic Counseling: Analysis of a Population-Based Sample in Mexico.Frontiers in pharmacology · 2020Article
- Impact of DNA source on genetic variant detection from human whole-genome sequencing data.Journal of medical genetics · 2019Article
- SNP located in anThe British journal of ophthalmology · 2019Article
- A comparison of genetic sampling methodologies for candidate-gene analyses.Journal of translational science · 2019Article
- The association of mitochondrial DNA haplogroups with POAG in African Americans.Experimental eye research · 2019Article
- The utility of DNA extracted from saliva for genome-wide molecular research platforms.BMC research notes · 2018Article
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundThe question of whether DNA obtained from saliva is an acceptable alternative to DNA from blood is a topic of considerable interest for large genetics studies. We compared the yields, quality and performance of DNAs from saliva and blood from a mostly elderly study population.
methodsTwo thousand nine hundred ten DNAs from primarily elderly subjects (mean age ± standard deviation (SD): 65 ± 12 years), collected for the Primary Open-Angle African-American Glaucoma Genetics (POAAGG) study, were evaluated by fluorometry and/or spectroscopy. These included 566 DNAs from blood and 2344 from saliva. Subsets of these were evaluated by Sanger sequencing (n = 1555), and by microarray SNP genotyping (n = 94) on an Illumina OmniExpress bead chip platform.
resultsThe mean age of subjects was 65, and 68 % were female in both the blood and saliva groups. The mean ± SD of DNA yield per ml of requested specimen was significantly higher for saliva (17.6 ± 17.8 μg/ml) than blood (13.2 ± 8.5 μg/ml), but the mean ± SD of total DNA yield obtained per saliva specimen (35 ± 36 μg from 2 ml maximum specimen volume) was approximately three-fold lower than from blood (106 ± 68 μg from 8 ml maximum specimen volume). The average genotyping call rates were >99 % for 43 of 44 saliva DNAs and >99 % for 50 of 50 for blood DNAs. For 22 of 23 paired blood and saliva samples from the same individuals, the average genotyping concordance rate was 99.996 %. High quality PCR Sanger sequencing was obtained from ≥ 98 % of blood (n = 297) and saliva (n = 1258) DNAs. DNA concentrations ≥10 ng/μl, corresponding to total yields ≥ 2 μg, were obtained for 94 % of the saliva specimens (n = 2344).
conclusionsIn spite of inferior purity, the performance of saliva DNAs for microarray genotyping was excellent. Our results agree with other studies concluding that saliva collection is a viable alternative to blood. The potential to boost study enrollments and reduce subject discomfort is not necessarily offset by a reduction in genotyping efficiency. Saliva DNAs performed comparably to blood DNAs for PCR Sanger sequencing.
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