2020 · Journal of strength and conditioning research · paywalled
Ciliary Neurotrophic Factor Receptor rs41274853 Polymorphism Is Associated With Weightlifting Performance in Japanese Weightlifters
Homma et al.
The finding, in our words
Using the Oragene DNA self-collection kit, this study found no significant difference in CNTFR genotype frequencies between weightlifters, 56% CC, 32% CT and 12% TT, and controls, 53% CC, 40% CT and 7% TT. However, the CT+TT genotype was associated with higher relative performance, though the cross-sectional design limits causal inference.
A paraphrase to the Library’s standard, never the abstract. The source is one link away and is always the authority.
Self-collected saliva samples provided adequate DNA for genotyping in preterm birth research, though questionnaire data on birth details had limited concordance with prospective records, indicating that while DNA sampling is feasible via post, phenotyping requires more reliable data collection methods for genetic studies.
Using a patient-centric saliva microsampling kit, the study found that genetic variants, VKORC1 and CYP2C9, and smoking explained 39.2% of warfarin dose variability in a Qatari population, supporting decentralised sampling for pharmacogenomic profiling.
Among 148 Marshallese adults recruited through community-based participatory research, 95.5% provided a 2 mL saliva specimen using an Oragene DNA self-collection kit and 96.6% agreed to future contact, demonstrating high acceptability of patient-centric, decentralised genetic sampling in an underserved population with disproportionate type 2 diabetes burden.
A US survey of 3,400 adults aged 62 to 90 collected up to 15 biomeasures at home, including saliva, dried blood spots and urine, with Salivette and Oragene among the devices used, which shows that several patient-centric sampling methods can run together in home-based research.
This study demonstrated that a fully remote genome sequencing study using self-collected dried blood spots and buccal swabs is feasible for individuals with Prader-Willi syndrome, with all participants completing the study and reporting the process was easy despite being lengthy. The design successfully returned actionable genetic findings, including those related to blood clot formation, to participants.