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A two gene-based risk score predicts alcoholic cirrhosis development in males with at-risk alcohol consumption

Mancina, Rosellina Margherita, (författare)
Göteborgs universitet, Institutionen för medicin, avdelningen för molekylär och klinisk medicin, Gothenburg University, Institute of Medicine, Department of Molecular and Clinical Medicine
Ferri, F. (författare)
Farcomeni, A. (författare)
visa fler...
Molinaro, Antonio, (författare)
Göteborgs universitet, Institutionen för medicin, avdelningen för molekylär och klinisk medicin, Gothenburg University, Institute of Medicine, Department of Molecular and Clinical Medicine
Maffongelli, A. (författare)
Mischitelli, M. (författare)
Poli, E. (författare)
Parlati, L. (författare)
Burza, M. A. (författare)
De Santis, A. (författare)
Attilia, F. (författare)
Rotondo, C. (författare)
Rando, M. M. (författare)
Attilia, M. L. (författare)
Ceccanti, M. (författare)
Corradini, S. G. (författare)
visa färre...
Göteborgs universitet Sahlgrenska akademin. Institutionen för medicin, avdelningen för molekylär och klinisk medicin. 
2019
Engelska.
Ingår i: Application of Clinical Genetics. - 1178-704X. ; 12, s. 1-10
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Background: Alcoholic cirrhosis represents 1% of all cause-of-deaths worldwide. Its incidence is higher in males and results from the combination of environmental and genetic factors. Among all the genetic determinants of alcoholic cirrhosis, the patatin-like phospholipase domain protein 3 (PNPLA3) rs738409 represents the most widely validated determinant. Recent cross-sectional studies on alcohol abusers identified transmembrane-6 superfamily member 2 (TM6SF2) rs58542926, membrane bound O-acyltransferase domain containing 7 (MBOAT7) rs641738, and cluster of differentiation 14 (CD14) rs2569190 as new genetic risk factors for alcoholic cirrhosis. We aimed to develop a gene-based risk score to predict the incidence of alcoholic cirrhosis in males with at-risk alcohol consumption. Materials and methods: A total of 416 male at-risk alcohol drinkers were retrospectively examined. The association between alcoholic cirrhosis incidence and PNPLA3, CD14, TM6SF2, and MBOAT7 variants was tested. Age at onset of at-risk alcohol consumption, age, and body mass index (BMI) were included as covariates to determine the prediction score for alcoholic cirrhosis incidence by evaluating time-dependent receiver operating characteristic curves. Results: We found that PNPLA3, CD14, and TM6SF2 were associated with alcoholic cirrhosis prevalence. PNPLA3 and CD14 were also associated with its incidence. The best predictive score formula was (age at onset of at-risk alcohol consumption x 0.1) + (number of CD14 allele T) + (number of PNPLA3 allele M) + (BMI x 0.1). A threshold of 7.27 was identified as cutoff for the predictive risk of alcoholic cirrhosis development in 36 years from the onset of at-risk alcohol consumption with 70.1% sensitivity and 78.7% specificity. Conclusion: We developed the first score for alcoholic cirrhosis prediction that combines clinical and genetic factors.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)

Nyckelord

alcoholic cirrhosis
PNPLA3
CD14
predictive score
pnpla3 i148m rs738409
superfamily member 2
fatty liver-disease
genome-wide association
cd14 endotoxin receptor
confers
susceptibility
variant
polymorphism
tm6sf2
injury
Genetics & Heredity

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