A study in Clinical Epigenetics by Willems et al (2024), examined whether self-control is associated with buccal and saliva DNA-methylation (DNAm) measures of biological aging, and whether biological aging measured in buccal DNAm is associated with self-reported health status.
The study found that in older participants (57–72 years), lower self-control was associated with more advanced biological aging, but this was not the case in young adults, adolescents or children. These associations were present even after correcting for possible confounders such as socioeconomic contexts, BMI, or genetic correlates of low self-control. The results also indicated that both advanced biological age and a faster pace of aging as measured by buccal DNAm, were associated with more self-reported disease.
The findings are consistent with the hypothesis that self-control is associated with health via pathways that accelerate biological aging in midlife and older age.
We were excited to see that Isohelix SK-1S buccal swabs and Dri-Capsules were used to collect buccal and saliva samples for methylation profiling.
Isohelix is excited to be exhibiting at ESHG 2025 from May 24–27 in Milan at Booth #316.
We’ll be showcasing our latest innovations in DNA Collection and Isolation, and our team will be there to talk through any technical questions you might have.
Blood samples have traditionally been considered the gold standard DNA source for genomic analysis, but obtaining blood samples is a painful, invasive, and costly procedure that must be performed by qualified personnel.
By contrast, saliva collection is safe and non-invasive, and saliva collection kits can be mailed to donors for self-collection at home. Over the past two decades, saliva-based DNA collection has become routine for population-scale genetic studies, clinical research, and emerging diagnostic applications.
This article outlines how saliva is currently used for genetic studies, discusses technical considerations for sample processing and analysis, and explores future opportunities and challenges for this evolving field.
Why use saliva as a source of genomic DNA?
Genetic Analysis Techniques Used For Saliva-Based Studies
The Challenges of Using Saliva DNA
Genetic Research Using Saliva: Emerging Directions and Future Opportunities
Conclusion
GeneFix DNA/RNA Products
Why use saliva as a source of genomic DNA?
“Saliva is much easier and cheaper to collect and transport than blood.”
Recruitment and compliance rates are much higher when saliva samples are used instead of blood, as saliva collection is painless and can done at home. Study participants are often reluctant to provide blood samples due to the need to travel to a health centre or the painful nature of giving a sample. Another challenge when using blood samples is that they must be refrigerated or frozen during transport and storage.
Saliva samples do not require pre-processing and are commonly collected using non-hazardous reagents; therefore they can be sent to the laboratory via regular mail. Commercial saliva collection kits can stabilize DNA at room temperature for over five years, avoiding the high cost and logistical challenges associated with the cold chain transport of blood.
Saliva contains a mixture of buccal epithelial cells and leukocytes, from which high-quality genomic DNA can be extracted. In a study comparing DNA extracted from saliva and blood, Looi et al [i] (2012), the DNA yield from saliva of 7.8 µg/0.5 mL from a manual purification method was comparable to the DNA yield from blood using a salt precipitation method (7.4 µg/0.5 mL blood sample). DNA extracted from saliva and blood were both high purity (A260/280 > 1.70).
Genetic Analysis Techniques Used For Saliva-Based Studies
The range of genetic analysis tools used for saliva-based studies has expanded over the years. The key techniques are outlined below:
1. Single Nucleotide Polymorphism (SNP) Genotyping Arrays
SNP Genotyping arrays are microarray-based genotyping tools used for genome-wide or targeted genome screens. To run SNP microarrays, DNA samples of fragmented single-stranded DNA are hybridized to an array comprising hundreds of thousands of unique nucleotide probe sequences that target SNPs. SNP arrays can also be used to study copy number variations (CNVs), which are often associated with diseases.
SNP arrays are widely used platforms for direct-to-consumer applications such as ancestry analysis and large cohort population genetics studies. Arrays provide cost-effective, high-throughput analysis of hundreds of thousands of common SNPs, enabling genome-wide association studies (GWAS), ancestry inference, and polygenic risk score (PRS) calculation.
2. Next Generation Sequencing (NGS) Using Saliva Samples
NGS can provide data on thousands of genes at once from multiple samples, enabling the discovery and analysis of a wide variety of genome features. In general, NGS requires lower amounts of input DNA than microarrays, but the data analysis can be complex and costly. As costs come down and data analysis tools become more sophisticated, NGS is increasingly being used in clinical genetics, particularly for Mendelian disease diagnosis and pharmacogenomics.
NGS can be used to look at the whole genome or specific sections of interest. There are three main types of NGS:
Whole Genome Sequencing: As the name suggests, in Whole Genome Sequencing (WGS) the whole genome is sequenced, including non-coding regions, structural variants, and mitochondrial DNA. WGS is being adopted for research biobanks and clinical diagnostics as costs decline to extract as much data from samples as possible.
Targeted NGS: In Targeted NGS, samples are enriched for the areas of interest using hybridization capture or amplicon sequencing, and then only these areas are sequenced. Hybridization capture uses biotinylated oligonucleotide probes to capture the regions of interest, while amplification uses PCR. Targeted sequencing is faster and more cost-effective than WGS, allowing for deeper sequencing of areas of interest. Targeted sequencing is an especially sensitive and powerful method for identifying variants and mutations, including rare variants.
Whole Exome Sequencing (WES): Only the protein-coding regions (~1–2% of the genome) are sequenced in WES, often including rare or clinically significant variants. Traditionally whole exome sequencing was performed instead of WGS, to keep costs down.
3. Mitochondrial DNA Analysis
The mitochondrial genome mutates much faster than the nuclear genome, making mitochondrial DNA a valuable tool for systematics, evolutionary biology research, population genetics, and conservation biology research.
Mitochondrial DNA (mtDNA) can also be used for genetic epidemiological studies, and forensics.
4. PCR
Saliva DNA can be amplified using PCR for genotyping or diagnostic applications. Ng et al[ii] (2006) studied the performance on saliva DNA samples in real time PCR and found that saliva was a viable alternative source of human genomic DNA for genetic epidemiological studies.
The use of saliva as a source of DNA for PCR-based diagnostic tests came to the fore during the COVID-19 pandemic, and a study by Ganie et al (2023)[iii] investigated the sensitivity and specificity of saliva as a non-invasively-obtained specimen for molecular detection of SARS-CoV-2 RNA.
5. DNA Methylation Studies
In 2019, Murata et al[iv], found that in addition to high correlation in DNA methylation profiles, CpG sites showing large interindividual DNA methylation differences were similar between blood and saliva, so saliva could be an alternative source of genomic DNA for cohort studies, as long as source‐dependent DNA methylation differences were considered.
The Challenges of Using Saliva DNA
Using saliva for genetic analysis presents several technical and operational challenges. However, in recent years, there have been significant improvements in devices to collect saliva and good yields of high-quality DNA can now be extracted.
Variable DNA Quality: Degradation due to improper storage or low epithelial cell content can affect downstream applications, especially WES and WGS. DNA integrity is crucial for detecting structural variants or phasing haplotypes.
Microbial Contamination: Co-extraction of bacterial DNA can reduce sequencing efficiency. Metagenomic filtering and human-specific capture protocols help mitigate this, though they increase cost and complexity.
Sample Identity and Mix-ups: Self-collection increases the risk of sample mix-up or contamination. Barcoding, digital tracking, and sample fingerprinting via SNP profiles are used to verify identity and minimize these issues.
Genetic Research Using Saliva: Emerging Directions and Future Opportunities
1. Liquid Biopsy Applications
Saliva is being explored as a non-invasive liquid biopsy medium, particularly for cancers localized to the oral cavity, pharynx, or lungs. ctDNA and exosomes can be isolated from saliva and analyzed via droplet digital PCR (ddPCR), targeted sequencing, or methylation assays. While sensitivity remains lower than plasma-based liquid biopsies, saliva offers a complementary diagnostic approach.
2. Pharmacogenomics and Precision Medicine
Clinical-grade saliva tests are being developed to guide therapeutic decisions based on variants in genes such as CYP2D6, SLCO1B1, and DPYD. Saliva-based assays offer a valuable route for predictive testing in primary care, psychiatry, and oncology.
3. Decentralized Clinical Trials and Global Health
Saliva-based genotyping supports remote enrolment and sample collection in decentralized clinical trials. This is especially valuable in rare disease research and studies requiring diverse representation. With minimal infrastructure needs, saliva testing can enhance genetic screening in low- and middle-income countries.
4. Genetic Epidemiology and Behavioural Studies
Saliva-based DNA collection has facilitated the expansion of socio-genomic research, including studies on educational attainment, cognitive function, and mental health disorders. Twin studies and family-based designs increasingly rely on at-home kits for sample collection, improving retention and longitudinal follow-up.
5. AI and Predictive Modelling
The growing volume of genotypic and phenotypic data from saliva-based studies is well suited to machine learning approaches. AI models are being used to improve variant interpretation, identify complex trait associations, and predict treatment outcomes from polygenic and environmental features.
6. Multi-omic Profiling
Saliva contains not only DNA but also RNA, proteins, metabolites, and microbial communities. Recent studies have demonstrated the feasibility of salivary transcriptomics, proteomics, and microbiome sequencing, paving the way for integrated multi-omic analyses.
These data types could enable early disease detection, especially in inflammatory, metabolic, or neurodegenerative conditions. For example, salivary miRNAs and extracellular vesicles are being investigated as biomarkers for Alzheimer’s and head & neck cancers.
Conclusion
Saliva has emerged as a practical, scalable biospecimen for genomic research and clinical applications. It enables high-throughput sample collection, democratizes access to genetic testing, and supports multi-omic innovation. While challenges in sample quality, microbial contamination, and data interpretation persist, ongoing technical advances are steadily improving the reliability and breadth of saliva-based assays.
As we move toward a more personalized, preventative healthcare model, saliva will likely serve as a cornerstone of population genomics and precision medicine—offering a low-friction path from collection to insight.
GeneFix DNA/RNA Products
The GeneFix™ range of DNA/RNA products have been designed to maximize yields and purity of DNA/RNA collected and stabilized from Saliva. Isohelix has over the years built a leading reputation for designing and manufacturing DNA/ RNA sampling and purification products, together with their associated kits to stabilise and isolate your DNA/RNA.
[i] Looi ML, Zakaria H, Osman J, Jamal R. Quantity and quality assessment of DNA extracted from saliva and blood. Clin Lab. 2012;58(3-4):307-12. PMID: 22582505
[ii] Ng DP, Koh D, Choo S, Chia KS. Saliva as a viable alternative source of human genomic DNA in genetic epidemiology. Clin Chim Acta. 2006 May;367(1-2):81-5. doi: 10.1016/j.cca.2005.11.024. Epub 2006 Jan 4. PMID: 16388788.
[iii] Ganie, M. W., Nainggolan, I. R. A., Bestari, R., Hazidar, A. H., Hasibuan, M., Siregar, J., Ichwan, M., Kusumawati, R. L., & Lubis, I. N. D. (2023). Use of saliva as an alternative diagnostic method for diagnosis of COVID-19. IJID Regions, 8, S8-S12. https://doi.org/10.1016/j.ijregi.2023.03.011
[iv] Murata Y, Fujii A, Kanata S, et al. Evaluation of the usefulness of saliva for DNA methylation analysis in cohort studies. Neuropsychopharmacol Rep. 2019;39(4):301-305. doi:10.1002/npr2.12075
The microbiome, composed of bacteria, viruses, fungi, and other microorganisms, plays a vital role in a wide range of processes in human health, agriculture, and environmental sciences.
Microbiome research and analysis has rapidly increased in recent years. In humans, the gut microbiome influences digestion, immune function, mental health, and even susceptibility to diseases such as obesity, diabetes, and inflammatory bowel conditions. Microbiomes contribute to soil fertility, plant health, and pollution degradation in environmental and agricultural sciences.
The number of papers featuring the word, “microbiome” in the title, for the last 20 years. Figures taken from Pub Med
Understanding the trillions of microorganisms that inhabit our bodies and surroundings is proving essential for human well-being. As research in this field grows, so does the need for effective and standardized methods of microbiome sample collection.
Advancements in next-generation sequencing (NGS) and bioinformatics allow researchers to analyze microbial communities at an unprecedented level, leading to breakthroughs in healthcare, agriculture, and biotechnology. However, these sophisticated analyses require high-quality sample collection and extraction to ensure accurate results.
Microbiome Analysis Methods
There are several different types of nucleic acid-based microbiome analysis. Each analysis method has its strengths and limitations, and researchers often use a combination of methods to give a comprehensive picture of the community.
The three most commonly used methods are:
1. Amplicon Sequencing (16S rRNA, ITS, 18S rRNA)
Targeted sequencing of the 16s rRNA in bacteria and ITS and 18S rRNA genes in fungi is cost-effective. These genes are highly conserved but have diverged over time and, so, can be used to provide a “barcode” that can be assigned to specific taxonomies or counted to identify the frequency of each member of the microbial community. This method is widely used but can be limited in resolution; in some cases, distinguishing species is impossible.
Untargeted, shotgun sequencing methods capture all microbial genomes present within a sample. Metagenomic shotgun assemblies are either performed de novo, based on reference genomes, or using a hybrid of both methods. All types of microorganisms can be sequenced, not just bacteria and fungi. This method can identify species, strains, and functional genes but requires significant computational resources for analysis.
3. Metatranscriptomics
Sequencing the RNA of a microbial community can give information on the diversity of the active genes present, quantify their expression levels, and monitor how these levels change in different conditions. The advantage of metatranscriptomics is that it can provide information about differences in the active functions of microbial communities that would otherwise appear to have a similar makeup. However, it is a more expensive and complex analysis than DNA-based methods.
How to Collect Microbiome Samples
Extracting DNA and RNA from complex microbiome samples can be challenging due to low yields in some sample types such as skin or environmental swabs, and the presence of inhibitors and background DNA and RNA from host organisms. Careful sample collection is crucial for obtaining accurate and reproducible data.
Enabling donors to collect samples at home removes the need to travel to a clinic or laboratory, which is particularly beneficial for individuals with mobility issues, busy schedules, or living in remote areas.
Collecting samples at home can also significantly reduce the costs associated with sample collection by eliminating the need for dedicated space and staff to handle sample collection in a clinical setting. Sample collection by study participants requires simple, straightforward protocols that non-professionals can follow.
What to consider when collecting microbiome samples
Sample type: Sample types vary widely depending on the microbiome to be studied. Key issues revolve around the complexity of the sample matrix, the presence of inhibitors, and the relative biomass of microbial cells. Specialized collection and extraction kits tailored to each sample type can be used to overcome these challenges.
Maintaining nucleic acid stability: Using a stabilization reagent to preserve the nucleic acids present in a sample ensures that the sample reflects the microbiome at the time of sampling and is not affected by nucleic acid degradation or overgrowth of particular species.
Contamination Prevention: Using sterile, single-use collection tools ensures you are not introducing microbial nucleic acids from the sample collection apparatus into your samples.
Storage & Transport: If collection tubes and sample packaging are sufficiently robust, stabilized samples can be sent to the laboratory for processing using regular mail, a straightforward and cost-effective method of sample transport. Using stabilization reagents prevents the need for expensive low temperature sample storage and transport.
Standardized Protocols: Adopting validated protocols for sample collection enhances reproducibility and data accuracy. Choosing simple protocols that minimize the risk of contamination and can be easily followed by participants without laboratory training, will give the best results.
What to consider when collecting microbiome samples
Below we have outlined the key considerations for sample collection of three of the most commonly studied microbiomes, with links to example products from the Isohelix product portfolio that can be used for these sample types:
1. Collecting DNA from Human Gut Microbiome Samples
Sample Type: Fecal samples or rectal swabs
Collection Method: The simplest method, as employed by the Isohelix StoolFix Gut Microbiome stabilization kit (STF), is to brush the outside of a stool sample with a swab such as the Isohelix SK Swab before placing the swab into an Isohelix StoolFix Gut Microbiome DNA Stabilization Kit tube containing stabilization solution. This method requires minimal sample handling and uses a non-toxic stabilization buffer inside an easy-to-use collection device that can be used within the laboratory or at remote patient collection sites.
Best Practice: Avoid contamination by following instructions carefully and ensuring samples are correctly sealed before shipment.
2. Oral Microbiome Samples
Best Practice: Refrain from eating, drinking, or brushing teeth for at least one hour before collection.
Sample Type: Saliva, tongue swabs, or dental plaque
Collection Method: Use saliva collection tubes or sterile swabs to capture microbiome samples from the mouth. The GeneFix Saliva Microbiome DNA Collector (MFX) is an easy to use oral microbiome DNA collection kit that has been optimized for the collection of samples using saliva. Alternatively, Isohelix SK Swabs can be used to swab the mouth; a range of Isohelix stabilization kits are available for swabs.
3. Skin Microbiome
Sample Type: Skin swabs
Collection Method: Isohelix SK Swabs can be used to collect samples from the skin for microbiome sampling. Various stabilization options are available to preserve swab samples.
Best Practice: Avoid using soaps or lotions for several hours before collection to prevent altering the microbial composition.
4. Environmental samples
Sample Type: Soil, water, surface swabs, or air samples
Collection Method: Different protocols can be followed, depending on the environment to be sampled. Isohelix SK Swabs can be used to collect samples from environmental surfaces. Various stabilization options are available to preserve swab samples.
Best Practice: Use aseptic techniques to prevent contamination during collection.
Conclusion
Microbiome research is revolutionizing our understanding of health, disease, and ecosystems. With the increasing significance of this field, proper sample collection methods are essential for generating reliable and reproducible data. By considering high-quality collection solutions like those from Isohelix and following best practices in sample collection, researchers can continue to unlock the microbiome’s vast potential for improving health and sustainability.
Microbiome research is revolutionizing our understanding of health, disease, and ecosystems. With the increasing significance of this field, proper sample collection methods are essential for generating reliable and reproducible data. By considering high-quality collection solutions like those from Isohelix and following best practices in sample collection, researchers can continue to unlock the microbiome’s vast potential for improving health and sustainability.
We are constantly adding to the information on microbiomics on our website. See below for some of our resources:
Product details and how to order Isohelix products :
We are excited to see that the Isohelix RapiDri Buccal Swab Kit has been selected as the sample collection method for an Australian study investigating the effects of peanut butter supplementation on physical function, cognitive function, body composition, nutritional status, and DNA telomere length in older adults.
In the “Capacity of Older Individuals after Nut Supplementation (COINS) study,” buccal cell samples from participants’ inner cheeks will be collected using the Isohelix RapiDri Buccal Swab Kit, following the procedure outlined in the kit. RapiDri is an easy-to-use buccal swab that includes a quick-drying pouch that stabilizes DNA and acts as a secure transport pack. Cell samples will be processed and analyzed for DNA telomere length using the quantitative PCR method.
Alongside the DNA analysis, participants will undergo various physical and cognitive function assessments, body composition, and nutritional status analyses.
Once available, the results will indicate whether daily peanut butter intake improves physical function, cognitive health, and overall well-being in older adults.
We can’t wait to see the results of the study when they are published!
We’re thrilled to announce our attendance at Festival of Genomics & Biodata in London on January 29th and 30th. Visit us at Booth #111 to explore our latest innovations in Sample Collection, Stabilization, and DNA Isolation for NGS.
Check out this hot-off-the-press publication by Kapellou et al. from St Mary’s University in London, where questionnaires, cognitive tests, and genotyping were used to investigate the interactions between genetics and habitual caffeine consumption on cognitive performance.
Healthy participants completed questionnaires on sociodemographic, health, and lifestyle factors and caffeine and alcohol intake.
They were then subjected to cognitive tests to assess social and emotional cognition, memory, attention, and executive function.
Finally, DNA was collected remotely from participants using an Isohelix RapiDri™ Swab kit. DNA was extracted and samples were genotyped at loci associated with caffeine metabolism and response, using TaqMan® SNP genotyping assays.
The findings suggest an association between genetic caffeine metabolism, habitual caffeine intake, and cognitive function in terms of social cognition and executive function.
Participants were grouped into ‘fast’ and ‘slow’ metabolizers:
‘Fast’ metabolizers consumed significantly more caffeine than ‘slow’ metabolizers.
‘Slow’ metabolizers performed better than ‘fast’ metabolizers in emotion recognition among high-caffeine consumers.
“Fast’ metabolizers performed better than ‘slow’ metabolizers in the executive function domain, but only within moderate caffeine consumers.
The study confirms that the association between caffeine and cognition is domain-specific, with social and emotional cognition and executive linked to habitual intake. It also replicates previous findings that ‘fast’ metabolizers consume more caffeine. More research in natural environments using larger cohorts is needed to confirm these findings and understand how habitual caffeine may influence cognitive function based on individual genotypes.
We are always thrilled to see our products cited in peer-reviewed publications.
This month, we would like to share some publications in which our popular Buccalyse Direct-to-PCR (BEK) kits (sometimes referred to as Buccalyse DNA Release kits) have been used to rapidly extract DNA for applications such as PCR and microarray analysis:
The objective of this research was to assess the sensitivity, repeatability, reproducibility, accuracy, and precision of an HTS iSelect Custom panel called ‘Rita’, a custom SNP microarray panel developed using Illumina Infinium HTS technology. Designed for high-throughput genotyping, the panel efficiently facilitates the analysis of over 4000 markers associated with health, lifestyle, and forensic factors.
Studies revealed consistent panel performance across different batches and operators, with no significant deviations in call rates or genotyping results. The evaluation confirmed the Rita microarray as a robust, high-throughput genotyping tool, underscoring its potential in genetic research and forensic applications.
Samples for the study were extracted from buccal swabs using the Buccalyse DNA Release Kit. The sensitivity study showed that it is possible to obtain more than a 99 % call rate when working with as little as 0.78 ng of DNA.
The ability to a lower DNA input increases the assay’s utility in forensic laboratories, where casework samples may sometimes contain small amounts of genetic material.
This study examined the relationship between six obesity-related genes (CLOCK, FTO, GHRL, LEP, LEPR, MC4R) and their impact on measures of obesity and emotional eating behavior in 220 Romanian adults.
Buccal cells were collected from the lateral wall of the oral vestibule and sent for processing in a UK laboratory using the Rapidri Swab kit. DNA was then extracted from the buccal cells using Buccalyse, and genotype analysis was performed using the ABI7900 real-time thermocycler system.
The analysis revealed significant variability in obesity-related phenotypes and emotional eating behaviors across different genotypes. The study provides a foundation for targeted interventions to prevent and reduce obesity and suggests potential strategies for gene expression modulation to mitigate the effects of emotional eating.
Osteonecrosis of the jaw (ONJ) is a rare but serious adverse drug effect linked to long-term and/or high-dose exposure to nitrogen-bisphosphonates (N-BP). The objective of this investigation was to assess the relationship linking immune function, N-BP exposure, the oral microbiome, and ONJ susceptibility.
To investigate the oral microbiome, Isohelix DNA swabs were used to obtain microbial DNA by running the swab along an area of the outer gumline of subjects. DNA was extracted using the Isohelix Buccalyse DNA extraction kit and stored at −20°C until analysis.
The oral microbiome was characterized by 454 pyrosequencing of the 16S rRNA gene in 93 subjects stratified by N-BP exposure and a history of ONJ.
The oral microbiome was found to be unlikely to cause ONJ. Instead, individuals with bisphosphonate-associated ONJ lacked immune resiliency, which impaired their capacity to respond adequately to the immunological stress of N-BP.
Buccalyse offers researchers a robust, user-friendly tool that consistently delivers reliable results. Its widespread adoption in diverse studies reflects its quality and adaptability, making it an indispensable asset for advancing research in genetics, microbiome studies, and forensic science.
Summary
The above publications feature DNA extracted using the Buccalyse Direct-to-PCR kit being used in a range of molecular biology applications including (but not limited to) genotyping using SNP micorarrays and PCR methods, and 454 pyrosequencing of the 16S rRNA gene for microbiome characterization.
The Buccalyse Direct-to-PCR Kit has been specially formulated to produce high DNA yields from buccal swabs. The kit is a quick and simple one-tube alternative to existing DNA isolation methods when extracting DNA for use in PCR reactions. The yield of DNA from a single buccal swab using Buccalyse is generally around 2 to 4ug from an adult.
GWAS studies are genomic studies that test hundreds of thousands of genetic variants across many genomes, to find those statistically associated with a specific trait. GWAS have a range of applications including understanding the underlying biology of a phenotype, estimating the heritability of a trait, investigating genetic correlations and making clinical predictions.
Advantages and Disadvantages of GWAS
GWAS can identify associations but doesn’t typically pinpoint causal relationships, so further studies are usually required to confirm findings and explore their biological significance.
GWAS Studies to investigate dental caries and peridontal disease
Genome wide association studies (GWAS) play a crucial role in understanding the mechanisms underlying dental caries and periodontal disease. There are large variations in genetics and lifestyles across ethnicities, and although large-scale genome-wide association studies (GWAS) on dental caries and periodontal disease have been conducted extensively, few studies focus on Asian populations.
The recent study, “Genome-wide association meta-analysis identifies two novel loci associated with dental caries” by Nogawa et al., used genome data from 45,525 Japanese individuals to conduct a GWAS, assessing the self-reported history of dental caries and periodontal disease of study participants. A meta-analysis was then performed by integrating our results with those from a previous large-scale GWAS predominantly involving European populations.
Although no new loci associated with periodontal disease were identified, two novel loci associated with dental caries were discovered. The findings contribute to understanding the mechanisms underlying dental caries and periodontal disease.
We were delighted that this study used GeneFix Saliva collection devices to collect and stabilize DNA in saliva samples collected from participants. Genotyping was executed employing various Illumina Infinium BeadChips.
The GeneFix™ range of DNA/RNA products has been designed to maximize the yields and purity of DNA/RNA collected and stabilized from saliva. GeneFix kits are ideal for collecting samples from study participants at home or in the clinic, as they are non-toxic, simple to use, and contain a reagent that stabilizes DNA at room temperature for up to 60 months. After sample collection, kits can be mailed to the lab for DNA extraction.
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