ICEECE2012 Poster Presentations Growth hormone IGF axis - basic (23 abstracts)
C677T methylenetetrahydrofolate reductase gene polymorphism and colorectal neoplasms in acromegalic patients
M. Torre 1 , G. Russo 1 , M. Ragonese 1 , A. Giandalia 1 , S. Puglisi 1 , E. De Menis 2 , G. Arnaldi 3 , G. Romanello 2 , D. Cucinotta 1 , F. Trimarchi 1 & S. Cannavò 1
1University of Messina, Messina, Italy; 2General Hospital of Montebelluna, Montebelluna (TV), Italy; 3Polytechnic University of Marche Region, Ancona, Italy.
Introduction: Acromegalic patients have an increased risk of developing colorectal neoplasms (CN). A common polymorphism (C677T) in gene coding for methylenetetrahydrofolate reductase (MTHFR), a key enzyme in folate metabolism and in DNA synthesis, reparation and methylation, has been associated with CN risk in general population, but its role in acromegalic patients has never been explored yet.
Aim: To investigate the contribution of MTHFR C677T polymorphism, folate status, and other lifestyle, nutritional and biochemical parameters on CN risk in acromegalic patients.
Patients and design: MTHFR C677T genotype was analysed by restriction fragment length polymorphism (RFLP) in 115 acromegalic patients (40 men; mean age 59.1±1.6 years). In all cases, colonoscopy was performed at diagnosis and/or during follow-up. Hormone (GH, IGF1 and insulin) and metabolic parameters (HOMAIR, Hb1AC) were measured in all patients. Fasting homocysteine (tHcy), folate and vitamin B12 levels and lifestyle (alcohol consumption and smoking habit) data were also collected.
Results: The distribution of MTHFR C677T was in the Hardy–Weinberg equilibrium and was similar in patients with or without CN. CN were detected in 51 patients (adenocarcinoma in three male T allele-carriers patients). Occurrence of CN was significantly correlated with TT genotype (P=0.03). There was a significant interaction between folate levels and MTHFR genotype on CN risk (P=0.037). In the low folate levels subgroup, TT patients had a 2.4 higher OR for CN than C allele-carriers (95%CI: 0.484–11.891; p NS). At multivariate analysis, smoking habits (P=0.007), HbA1c levels (P=0.021), dyslipidaemia (P=0.05) and uncontrolled acromegaly (P=0.05) were independently associated with CN.
Conclusions: In this large cohort of acromegalic patients, risk for CN seems increased, despite not significantly, in patients with MTHFR 677TT and low folate levels. HbA1c, dyslipidaemia, smoking, and disease activity were associated with increased CN risk.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.
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Endocrine Abstracts
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