MTHFR Polymorphisms in Girls with Anorexia Nervosa: Implications on Body Weight

Area of Science:

• Genetics and Psychiatry
• Nutritional Psychiatry
• Molecular Biology

Background:

• Anorexia nervosa (AN) presents with typical and atypical subtypes, potentially influenced by genetic predispositions.
• The methylenetetrahydrofolate reductase (MTHFR) gene plays a crucial role in folate metabolism, impacting neurotransmitter synthesis and potentially influencing psychiatric disorders.
• Genetic polymorphisms in the MTHFR gene (C677T and A1298C) have been investigated for their association with various health conditions.

Purpose of the Study:

• To investigate the association between genetic polymorphisms in the thrombotic panel and MTHFR gene with typical versus atypical anorexia nervosa.
• To explore the potential genetic underpinnings differentiating AN subtypes.

Main Methods:

• A cross-sectional pilot study involving 48 girls diagnosed with AN and 10 age-matched controls.
• Genotyping of MTHFR gene polymorphisms (C677T and A1298C) and hormonal assessment from blood samples.
• Classification of AN subtypes based on DSM-V criteria, with anthropometric measurements recorded.

Main Results:

• Girls with AN exhibited a 2.66-fold increased likelihood of carrying MTHFR gene polymorphisms compared to controls (p=0.041).
• The presence of any MTHFR polymorphism was independently associated with AN subtype: C677T (OR=4.929, p=0.040) and A1298C (OR=0.097, p=0.037).
• Atypical AN presentation was linked to a higher prevalence of MTHFR C677T and a lower prevalence of MTHFR A1298C.

Conclusions:

• MTHFR gene polymorphisms are significantly associated with the development and presentation of anorexia nervosa subtypes.
• The specific MTHFR polymorphisms C677T and A1298C may play distinct roles in differentiating typical from atypical AN.
• Further research is warranted to elucidate the precise mechanisms linking MTHFR genetics to AN pathophysiology.