Combining Genetic Variants to Improve Risk Prediction for NAFLD and Its Progression to Cirrhosis: A Proof of Concept Study
Joint Authors
Vespasiani-Gentilucci, Umberto
Picardi, Antonio
Dell’Unto, Chiara
De Vincentis, Antonio
Baiocchini, Andrea
Delle Monache, Marco
Cecere, Roberto
Pellicelli, Adriano Maria
Giannelli, Valerio
Carotti, Simone
Galati, Giovanni
Gallo, Paolo
Valentini, Francesco
Del Nonno, Franca
Rosati, Davide
Morini, Sergio
Antonelli-Incalzi, Raffaele
Source
Canadian Journal of Gastroenterology and Hepatology
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-03-14
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
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 to multiply 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.
American Psychological Association (APA)
Vespasiani-Gentilucci, Umberto& Dell’Unto, Chiara& De Vincentis, Antonio& Baiocchini, Andrea& Delle Monache, Marco& Cecere, Roberto…[et al.]. 2018. Combining Genetic Variants to Improve Risk Prediction for NAFLD and Its Progression to Cirrhosis: A Proof of Concept Study. Canadian Journal of Gastroenterology and Hepatology،Vol. 2018, no. 2018, pp.1-9.
https://search.emarefa.net/detail/BIM-1131023
Modern Language Association (MLA)
Vespasiani-Gentilucci, Umberto…[et al.]. Combining Genetic Variants to Improve Risk Prediction for NAFLD and Its Progression to Cirrhosis: A Proof of Concept Study. Canadian Journal of Gastroenterology and Hepatology No. 2018 (2018), pp.1-9.
https://search.emarefa.net/detail/BIM-1131023
American Medical Association (AMA)
Vespasiani-Gentilucci, Umberto& Dell’Unto, Chiara& De Vincentis, Antonio& Baiocchini, Andrea& Delle Monache, Marco& Cecere, Roberto…[et al.]. Combining Genetic Variants to Improve Risk Prediction for NAFLD and Its Progression to Cirrhosis: A Proof of Concept Study. Canadian Journal of Gastroenterology and Hepatology. 2018. Vol. 2018, no. 2018, pp.1-9.
https://search.emarefa.net/detail/BIM-1131023
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1131023