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| 1 | Patatin-like phospholipase domain containing-3 gene I148M polymorphism, steatosis, and liver damage in hereditary hemochromatosis显示文摘AIM: To investigate whether the patatin-like phospholipase domain containing-3 gene (PNPLA3 ) I148M polymorphism is associated with steatosis, fibrosis stage, and cirrhosis in hereditary hemochromatosis (HH). METHODS: We studied 174 consecutive unrelated homozygous for the C282Y HFE mutation of HH (C282Y+/+ HH) patients from Northern Italy, for whom the presence of cirrhosis could be determined based on histological or clinical criteria, without excessive alcohol intake (< 30/20 g/d in males or females) or hepatitis B virus and hepatitis C virus viral hepatitis. Steatosis was evaluated in 123 patients by histology (n = 100) or ultrasound (n = 23). The PNPLA3 rs738409 single nucleotide polymorphism, encoding for the p.148M protein variant, was genotyped by a Taqman assay (assay on demand, Applied Biosystems). The association of the PNPLA3 I148M protein variant (p.I148M) with steatosis, fibrosis stage, and cirrhosis was evaluated by logistic regression analysis. RESULTS: PNPLA3 genotype was not associated with metabolic parameters, including body mass index (BMI), the presence of diabetes, and lipid levels, but the presence of the p.148M variant at risk was independently associated with steatosis [odds ratio (OR) 1.84 per p.148M allele, 95% confidence interval (CI): 1.05-3.31; P = 0.037], independently of BMI and alanine amino-transaminase (ALT) levels. The p.148M variant was also associated with higher aspartate aminotransferase (P = 0.0014) and ALT levels (P = 0.017) at diagnosis, independently of BMI and the severity of iron overload. In patients with liver biopsy, the 148M variant was independently associated with the severity (stage) of fibrosis (estimated coefficient 0.56 ± 0.27, P = 0.041). In the overall series of patients, the p.148M variant was associated with cirrhosis in lean (P = 0.049), but not in overweight patients (P = not significant). At logistic regression analysis, cirrhosis was associated with BMI ≥ 25 (OR 1.82, 95% CI: 1.02-3.55), ferritin > 1000 ng/mL at diagnosis (OR 19.3, 95% CI: 5.3-125), and with the G allele in patients with BMI < 25 (OR 3.26, 95% CI: 1.3-10.3). CONCLUSION: The PNPLA3 I148M polymorphism may represent a permissive factor for fibrosis progression in patients with C282Y+/+ HH. | Luca Valenti Paolo Maggioni Alberto Piperno Raffaela Rametta Sara Pelucchi Raffaella Mariani Paola Dongiovanni Anna Ludovica Fracanzani Silvia Fargion | 2012 | World Journal of Gastroenterology2012，18，22： | 4 |
| 2 | Breastfeeding and the risk of epithelial ovarian cancer in an Italian population显示文摘 | Chiaffarino F Pelucchi C Negri E | 2005 | Gynecol Oncol2005，2，98： | 1 |
| 3 | Metabolic syndrome, its components and risk of age-related cataract extraction: a case- control study in Italy 显示文摘 | Galeone C Petracci E Pelucchi C | 2010 | Ann Epidemiol2010，20，5： | 1 |
| 4 | Diet and cancer in Mediterra- nean counties: carbohydrates and facts 显示文摘 | Bosetti C Pelucchi C Vecchia CL | 2009 | Public Health Nutrition2009，12，9： | 1 |
| 5 | Dietary fiber and ovarian cancer risk 显示文摘 | Pelucchi C Vecchia C L Chatenoud L | 2001 | European Journal of Cancer2001，37，： | 1 |
| 6 | Probiotics supplemen- tation during pregnancy or infancy for the prevention of atopic dermatitis: a meta-analysis 显示文摘 | Pelucchi C Chatenoud L Turati F | 2012 | Epidemiology2012，23，3： | 1 |
| 7 | New reaction classes in the kinetic modeling of low temperature oxidation of n-alkanes显示文摘 | Eliseo Ranzi Carlo Cavallotti Alberto Cuoci Alessio Frassoldati Matteo Pelucchi Tiziano Faravelli | 2014 | Combustion and Flame2014，，： | 1 |
| 8 | Folate intake and sauamous-cell carcinoma of the oesophagus in Italian and Swiss men显示文摘 | Galeone C Pelucchi C Levi F | 2006 | Ann of Oncol2006，17，3： | 1 |
| 9 | Hepcidin expression in iron overload diseases is variably modulated by circulating cactors显示文摘 | Ravasi G Pelucchi S Trombini P | 2012 | PLo S One2012，7，36： | 1 |
| 10 | Head and neck cancer: The possible role of stem cells显示文摘 | Bianchini C Ciorba A Pelucchi S | 2008 | Eur Arch Otorhinolaryngol2008，265，1： | 1 |
| 11 | Smoking and other risk factors for bladder cancer in women 显示文摘 | Pelucchi C La Vecchia C Negri E | 2002 | Prey Med2002，35，2： | 1 |
| 12 | Breasffeeding and the risk of epithelial ovarian cancer in an Italian population显示文摘 | Chiaffarino F Pelucchi C Negri E | 2005 | Gynecol Oncol2005，98，2： | 1 |
| 13 | Comparative analysis of rice MADS-box genes expressed during flower development显示文摘 | Nilla Pelucchi Fabio Fornara Cristina Favalli Simona Masiero Clara Lago Enrico M. Pè Lucia Colombo Martin M. Kater | 2002 | Sexual Plant Reproduction2002，，3： | 1 |
| 14 | Parotid gland carcinoma:surgical strategy based on local risk factors显示文摘 | CARINCI F FARINA A PELUCCHI S | 2001 | J Craniofac Surg2001，12，5： | 1 |
| 15 | Once daily intranasal fluticas on epropionate(200 microguams) reduces nasal symptoms and inflammation but also attenuates the increase in bronchial responsiveness during the pollen season in allergic rhinitis显示文摘 | Foresi A Pelucchi A Gherson G | 1996 | J Allergy Clin Immunol1996，98，： | 1 |
| 16 | The metabolic syn- drome and risk of prostate cancer in Italy显示文摘 | Pelucchi C Serraino D Negri E | 2011 | Ann Epidemiol2011，21，11： | 1 |
| 17 | A conservative treatment for plastic bronchitis in pediatric age显示文摘 | BERLUCCHI M PELUCCHI FTIMPANO S | 2014 | Am J Otolaryngol2014，35，： | 1 |
| 18 | Probiotics supplementation during pregnancy or infancy for the pre- vention of atopic dermatitis : a meta-analysis 显示文摘 | Pelucchi C Chatenoud L Turati F | 2012 | Epide- miology2012，23，3： | 1 |
| 19 | The rice StMADSll-like genes OsMADS22 and OsMADS47 cause floral reversions in Arabidopsis without complementing the svp and ag124 mutants 显示文摘 | FABIO FORNARA VERONICA GREGIS NILLA PELUCCHI | 2008 | J Exp Bot2008，59，： | 1 |
| 20 | Parotid gland carci- noma: surgical strategy based on local risk factors 显示文摘 | Carinci F Farina A Pelucchi S | 2001 | J Craniofac Surg2001，12，5： | 1 |
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