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COMBINING GENETIC VARIANTS TO IMPROVE RISK PREDICTION FOR NAFLD AND ITS PROGRESSION TO CIRRHOSIS: A

Combining Genetic Variants to Improve Risk Prediction for NAFLD and Its Progression to Cirrhosis: A Proof of Concept Study



Kind: Scientific news
Discipline: Medicine, Addition medicine
Added: 28-05-2018 by Orgabiohuman



Description
 
A-4-polymorphism-Risk-Score-Predicts-Steatohepatitis-In-Children-With-Nonalcoholic-Fatty-Liver-Disea

 


Umberto Vespasiani-Gentilucci ,1 Chiara Dell’Unto,1 Antonio De Vincentis,1
Andrea Baiocchini,2 Marco Delle Monache,3 Roberto Cecere,3 Adriano Maria Pellicelli,4
Valerio Giannelli,4 Simone Carotti,5 Giovanni Galati,1 Paolo Gallo,1 Francesco Valentini,1 Franca Del Nonno,2 Davide Rosati,6 Sergio Morini,5 Raffaele Antonelli-Incalzi,1and Antonio Picardi 1
1 Internal Medicine, Geriatrics, and Hepatology Unit, University Campus Bio-Medico,
Rome, Italy
2 Laboratory of Pathology ofe National Institute for Infectious Diseases, Lazzaro Spallanzani, Rome, Italy
3 Hepatology Outpatient Clinic, Colleferro Hospital, Rome, Italy
4 Liver Disease Unit, San Camillo-Forlanini Hospital, Rome, Italy
5 Laboratory of Microscopic and Ultrastructural Anatomy, CIR, University Campus Bio-Medico, Rome, Italy
6 University La Sapienza of Rome, Rome, Italy

Background&Aims. Identifying NAFLD patients at risk of progression is crucial to orient medical care and resources.We aimed to verify if the effects determined by different single nucleotide polymorphisms (SNPs) could add up tomultiply the risk of NAFLD and
NASH-cirrhosis. Methods. Three study populations, that is, patients diagnosed with NASH-cirrhosis or with noncirrhotic NAFLD and healthy controls, were enrolled. PNPLA3 rs738409, TM6SF2 rs58542926, KLF6 rs3750861, SOD2 rs4880, and LPIN1 rs13412852
were genotyped. Results. One hundred and seven NASH-cirrhotics, 93 noncirrhotic NAFLD, and 90 controls were enrolled. At least one difference in allele frequency between groups was significant, or nearly significant, for the PNPLA3, TM6SF2, and KLF6 variants (𝑝 < 0.001, 𝑝 < 0.05, and 𝑝 = 0.06, resp.), and a risk score based on these SNPs was generated. No differences were observed for SOD2 and LPIN1 SNPs.When compared to a score of 0, a score of 1-2 quadrupled, and a score of 3-4 increased 20-fold the risk of noncirrhotic NAFLD; a score of 3-4 quadrupled the risk of NASH-cirrhosis. Conclusions. The effects determined by disease-associated variants at different loci can add up to multiply the risk of NAFLD and NASH-cirrhosis. Combining different disease-associated variants may represent the way for genetics to keep strength in NAFLD diagnostics.



 

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