| Journal: | Annals of hepatology |
| Database: | PERIÓDICA |
| System number: | 000407828 |
| ISSN: | 1665-2681 |
| Authors: | Greni, Federico1 Valenti, Luca2 Mariani, Raffaella3 Pelloni, Irene3 Rametta, Raffaela2 Busti, Fabiana4 Piperno, Alberto1 Ravasi, Giulia1 Girelli, Domenico4 Fargion, Silvia2 Galimberti, Stefania1 Pelucchi, Sara1 |
| Institutions: | 1Universita di Milano-Bicocca, Scuola di Medicina e Chirurgia, Monza, Lombardía. Italia 2Universita di Milano, Ospedale Maggiore Policlinico, Milán, Lombardia. Italia 3Azienda Socio Sanitaria Territoriale di Monza, Ospedale San Gerardo, Monza, Lombardía. Italia 4Universita di Verona, Policlinico GB Rossi, Verona, Veneto. Italia |
| Year: | 2017 |
| Season: | May-Jun |
| Volumen: | 16 |
| Number: | 3 |
| Pages: | 451-456 |
| Country: | México |
| Language: | Inglés |
| Document type: | Artículo |
| Approach: | Analítico, descriptivo |
| English abstract | HFE-related Hemochromatosis (HH) is characterized by marked phenotype heterogeneity, probably due to the combined action of acquired and genetic factors. Among them, GNPAT rs11558492 was proposed as genetic modifier of iron status, but results are still controversial. To shed light on these discrepancies, we genotyped 298 Italian p.C282Y homozygotes and 169 healthy controls. Material and methods. Material and methods. Material and methods. Allele and genotype frequencies were analysed and compared with those reported in Exome Variant Server (EVS). To explore the role of rs11558492 as a potential modifier of iron status, serum ferritin (SF), liver iron concentration (LIC) and iron removed (IR) were studied according to allele and genotype frequencies. In addition, the effect of the SNP on liver fibrosis was examined comparing patients with absent/mild-moderate fibrosis to those with severe fibrosis-cirrhosis. Results. Results. Results. GNPAT rs11558492 minor allele (G) frequency (MAF) was 20.3% in HFE-HH, 17.2% in controls and 20.6% in EVS database. Genotype frequencies were 64% and 69.2% (AA), 31.2% and 27.2% (AG), 4.8% and 3.6% (GG) in HFE-HH and controls, respectively. No significant differences were found comparing genotype and allele frequencies even selecting subgroups of only-males with extreme phenotypes and low alcohol intake. SF, IR and LIC levels did not significantly differ according to rs11558492 genotypes. Also, MAF did not differ between patients with absent/mild fibrosis and severe fibrosis/cirrhosis. Conclusions. Conclusions. Our Conclusions. findings indicate that GNPAT rs11558492 is not a major modifier of iron status and is not associated with liver fibrosis in HFE-HH patients |
| Disciplines: | Medicina |
| Keyword: | Gastroenterología, Hematología, Genética, Enfermedades hereditarias, Polimorfismo genético, Ferritina sérica, Hemocromatosis, Glicerofosfato O-acetiltransferasa |
| Keyword: | Medicine, Gastroenterology, Hematology, Genetics, Hereditary diseases, Genetic polymorphism, Serum ferritin, Hemochromatosis, Glyceronephosphate O-acyltransferase |
| Full text: | Texto completo (Ver PDF) |
