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Updated: Jun 3, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Analysis of beta3 adrenergic receptor gene polymorphism using noninvasive samples obtained at scheduled infant health
1Department of Hygiene and Public Health, School of Medicine, Kagawa Medical University, 761-0793, Miki-cho, Kagawa.
Insights
Infant obesity prevention is crucial. Genetic analysis using non-invasive samples like buccal mucosa and hair at health checkups is effective for identifying obesity risk factors in children.
Area of Science:
- Pediatrics
- Genetics
- Public Health
Background:
- Obesity is a significant risk factor for lifestyle-related diseases.
- Intervention during infancy is more effective for weight control than in adulthood.
- Infant health checkups are key opportunities for obesity prevention, but genetic analysis is challenging without blood samples.
Purpose of the Study:
- To investigate the feasibility of genetic analysis for obesity prevention in infants using non-invasive samples.
- To determine the effectiveness of typing beta3 adrenergic receptor gene polymorphism from buccal mucosa, hair, and cerumen.
Main Methods:
- Collected buccal mucosa, hair, and cerumen samples from 96 infants at 18- and 36-month checkups.
- Assessed the success rate of polymorphism typing from each non-invasive sample type.
- Achieved high cooperation rates (94.1%) due to the non-invasive nature of sampling.
Main Results:
- Buccal mucosa (approx. 76%) and hair (approx. 44%) samples yielded successful polymorphism typing.
- Combined results from buccal mucosa and hair allowed typing for approximately 90% of infants.
- Cerumen samples were largely unsuitable for genetic analysis (approx. 4%).
Conclusions:
- Non-invasive genetic analysis from buccal mucosa and hair is practical for infant obesity prevention during routine health checkups.
- This method shows potential for widespread application in mass screenings for genetic factors of various diseases.
- Early genetic risk assessment in infants can facilitate timely obesity interventions.
Abstract:
Obesity is a risk factor for life-style-related diseases, and is based on three factors: genetic, environmental, and life-style. In adults, it is difficult to achieve and maintain normal body weight, so it is more effective to intervene from infancy to establish weight control. Legally required health checkups in infants of 18 and 36 months present important opportunities for obesity prevention. We consider genetic analysis to be a very important factor for obesity prevention in infancy. However, since health checkups don't involve the collection of blood, genetic analysis is considered difficult. In this study, we attempted the typing of beta3 adrenergic receptor gene polymorphism as a genetic factor from non-invasively obtained samples, buccal mucosa, hair and cerumen in 96 infants at their 18- and 36-month health checkups. Sampling buccal mucosa, hair and cerumen instead of blood caused almost no anxiety to the child or parent, so 94.1% cooperation with sampling was obtained. From buccal mucosa, about 76% of the samples could be used for the typing of polymorphism (81% by enzyme method, 59% by kit method). From hair, about 44% of the samples permitted typing of polymorphism, but from cerumen only about 4% of the samples could be used. Results from buccal mucosa and hair typed about 90% of infant polymorphism. These results suggest that this method would be practical at periodic health checkups, and would probably be applicable to mass screenings for genetic factor analysis for other diseases.
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