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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Lack of association between the MTHFR (C677T) polymorphism and atopic disease
Betina Heinsbaek Thuesen1, Lise Lotte Nystrup Husemoen, Mogens Fenger
1Research Centre for Prevention and Health, Glostrup University Hospital, Nordre Ringvej 57, Glostrup, Denmark. beheth01@glo.regionh.dk
Background:
Impaired folate metabolism has been suggested as a potential risk factor for the development of asthma and atopic disease. However, there have been conflicting reports on the potential association between atopic disease and a common polymorphism of the methylene-tetrahydrofolate reductase (MTHFR)-gene, a well-known marker of impaired folate metabolism.
Objectives:
The aim of this study was to investigate the association between the MTHFR (C677T) polymorphism and different outcome variables of asthma and atopic disease.
Methods:
This study was a population-based study of 1189 participants aged 15-77 years living in Copenhagen, the Capital of Denmark. Examinations included measurements of specific IgE and skin prick tests against inhalant allergens, metacholine bronchial hyper-reactivity, and serum eosinophilic cationic protein, and a self-administered questionnaire about diagnoses and symptoms of allergy and asthma. In addition, participants were genotyped for the MTHFR (C677T) polymorphism.
Results:
None of the examined outcomes were significantly associated with the MTHFR (C677T) polymorphism.
Conclusions:
The results of this study using detailed objective markers of atopic disease do not support the hypothesis that impaired folate metabolism as reflected by the MTHFR genotype is involved in the development of atopic disease.
Insights
This study found no significant link between the MTHFR gene variant, a marker for folate metabolism, and the development of asthma or atopic disease. These findings do not support the hypothesis that impaired folate metabolism contributes to these conditions.
Area of Science:
- Genetics and Immunology
- Environmental Health
Background:
- Impaired folate metabolism is a potential risk factor for asthma and atopic disease.
- Conflicting reports exist regarding the association between atopic disease and the MTHFR (C677T) gene polymorphism.
Purpose of the Study:
- To investigate the association between the MTHFR (C677T) polymorphism and asthma/atopic disease outcomes.
- To clarify the role of folate metabolism in the development of allergic conditions.
Main Methods:
- Population-based study of 1189 participants (aged 15-77) in Copenhagen.
- Assessed specific IgE, skin prick tests, methacholine bronchial hyper-reactivity, and serum eosinophilic cationic protein.
- Genotyped participants for the MTHFR (C677T) polymorphism and used questionnaires for allergy/asthma symptoms.
Main Results:
- No significant associations were found between the MTHFR (C677T) polymorphism and any of the measured asthma or atopic disease outcomes.
- Objective markers of atopic disease showed no correlation with the MTHFR genotype.
Conclusions:
- The study's findings do not support the hypothesis linking impaired folate metabolism, indicated by MTHFR genotype, to the development of atopic disease.
- Objective assessment of atopic disease markers did not confirm a role for MTHFR in disease development.
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