INIGEM   23989
INSTITUTO DE INMUNOLOGIA, GENETICA Y METABOLISMO
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
144/2582 - Interleukin-6 promoter -174 G>C polymorphism is associated with primary iron overload in male adults.
Autor/es:
BRITES FD; FRECHTEL G; BOERO L; TETZLAFF WF; CERRONE G; BOTTA EE; SORROCHE P; DARUICH J; MARTIN ME; MEROÑO T
Reunión:
Congreso; 21 International Congress of Nutrition.; 2017
Resumen:
Interleukin-6 promoter -174 G>C polymorphism is associated with primary iron overload in male adultsBackground and objectivesHereditary hemochromatosis (HH) is commonly associated with mutations in the HFE gene. Nonetheless, the variable penetrance of these mutations suggests that other genetic host factors may influence the development of overt iron overload (IO). There is a single nucleotide polymorphism (SNP) on position -174 G>C of the gene promoter of interleukin 6 (IL-6) which might be associated with primary IO. Carriers of the C allele were described to produce less IL-6. The aim of this study was to evaluate the SNP -174 G>C of the IL-6 gene and its interaction with iron metabolism and with inflammatory markers in male patients with primary IO.MethodsPatients with primary IO, evidenced by liver histology, were consecutively recruited during a 12-month period (n=37). Patients were divided into two groups, treated (n=24; ferritin = 85 (28-225) ng/ml) and untreated (n=13; ferritin = 722 (558-986) ng/ml). Controls were age-matched male volunteers (n=37). High sensitive C reactive protein (HsCRP) concentration was determined by an immunoturbidimetric assay and IL-6 by enzyme immunoassay. SNP-174 G>C was evaluated by PCR-RFLP. Differences were analyzed by ANOVA. Genotype distribution was compared by the Chi square test.ResultsHsCRP was higher and IL-6 lower in untreated IO patients than in the other groups (pC showed different genotype frequencies between patients (43% CC, 43% CG and 14% GG) and controls (10% CC, 41% CG and 49% GG) (OR= 4.094, 95%CI = 2.062 to 8.128, p