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MTHFR 1298 A>C gene polymorphism is associated with Non‐Alcoholic Fatty Liver Disease (NAFLD) and Insulin Resistance in well‐nourished patients
Author(s) -
Trovato Guglielmo M,
Ragusa Angela,
Catalano Daniela,
Martines G. Fabio,
Tonzuso Antonia,
Pirri Clara,
Buccheri Maria Antonietta,
Trovato Francesca M,
Di Nora Concetta
Publication year - 2012
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.26.1_supplement.lb422
Subject(s) - methylenetetrahydrofolate reductase , medicine , insulin resistance , gastroenterology , fatty liver , homocysteine , endocrinology , obesity , biology , genetics , allele , disease , gene
MTHFR gene encodes MethyleneTetraHydroFolate Reductase, a regulatory enzyme whose polymorphisms are associated with higher homocysteine. Among polymorphisms, C677T, a termolabile form, but not A1298C, was associated with fatty liver and insulin resistance. Aim to investigate the influence of A1298C polymorphism on NAFLD in well‐nourished non‐diabetic patients (pts). Patients 263 subjects (121 M, 142 F), age 53,19±16,33 years, BMI 28,08±5,92 Kg/m2, on adequate diet. A1298C and C677T polymorphisms were identified by RFLP‐PCR in peripheral blood; 100 C677T polymorphism and 69 double heterozygous pts were excluded by the analysis. Insulin resistance was assessed by HOMA; NAFLD by UltraSound (BLS). Finally 94 subject are included: 26 MTHFR 1298 AA, 35 MTHFR 1298 CC and 33 MTHFR 1298 AC. Results The three groups were not different for age, gender, dietary profile and BMI. Control group (MTHFR 1298 AA, no polymorphism) vs. MTHFR 1298 AC (eterozygotic) pts had more severe NAFLD (BLS: 0,54±0,76 vs. 1,12±1,14; p<0.029), insulin resistance (HOMA 2,12±1,12 vs. 3,20±2,35; p<0.036) and higher ALT/GGT. The MTHFR 1298 CC (omozygotic) pts did not show any difference from MTHFR 1298 AA. Conclusion MTHFR 1298 A>C gene polymorphism confers an increased risk for NAFLD and Insulin resistance, diet‐related conditions, with same level of obesity. Nutritional and omozygotic relationship deserve further investigation.