EYES2019 7th ESE Young Endocrinologists and Scientists (EYES) Meeting Oral Presentations (67 abstracts)
MTHFR polymorphic variants are associated with the predisposition of weight loss in girls with anorexia nervosa
Areti Augoulea 1 , Eleni Armeni 1 , Evangelia Deligeoroglou 1 , Emmanuel Economou 2 , Georgios Papadimitriou 1 , Evgenia Stergioti 1 , Vassilios Karountzos 1 , Artemis Tsitsika 3 , Konstantinos Panoulis 1 & Irene Lambrinoudaki 1
1Second Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, School of Medicine, Aretaieio Hospital, Athens, Greece; 2Clinical Laboratory of Therapeutic Individualization, National and Kapodistrian University of Athens, School of Medicine, Aretaieio Hospital, Athens, Greece; 3Adolescent Health Unit, Second Department of Pediatrics, P. and A. Kyriakou Children’s Hospital, University of Athens, Leoforos Mesogeion 24, Athens, Greece.
Objective: Differences in body weight and clinical features of typical vs atypical anorexia nervosa (A.N) might be explained by the genetic background. We aimed to evaluate the association between the subtypes of A.N. and the genetic polymorphisms of the thrombotic panel or the methyltetrahydrofolate reductase (MTHFR) gene.
Methods: A total of 40 adolescent girls with A.N., aged 13–19 years, were evaluated. We recorded anthropometric parameters, amenorrhoea duration and calculated age-adjusted body mass index (BMI) z-scores. Blood samples were obtained for hormonal assessment and genotyping of: Factor V Leiden, Factor V R2, Factor XIII, Glycoprotein IIb/IIIa, Prothrombin G20210A, MTHFR A1298C or C677T.
Results: Presence of atypical vs typical AN was predicted only by MTHFR mutations (C677T, OR=13.327, 95% CI: 1.384 to 128.3, P-value=0.025; A1298T, OR=0.068, 95% CI: 0.006 to 0.752, P-value=0.028), in models adjusted for age and levels of estrogen. The presence MTHFR1298 but not the MTHFR677 variant differed almost significantly between quartiles of BMI z-scores in AN-girls (Q1 vs Q2 vs Q3 vs Q4: 70% vs 50% vs 25% vs 20%, Chi-square P-value=0.092). The development of atypical vs typical AN is predicted by presence of MTHFR polymorphisms in combination (C677T polymorphism, O.R.=9.133, 95% CI: 1.366–61.074, P-value=0.023; A1298T polymorphism, O.R.=0.055, 95% CI: 0.005 to 0.644, P-value=0.021).
Conclusion: The presence of MTHFR genetic mutations is related with the predisposition of AN-girls to lose weight. Higher prevalence of the C677T mutation seems to be more protective in maintaining body weight compared with the A1298T mutation.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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