Genetic variants in the PNPLA3 gene are associated with nonalcoholic steatohepatitis.
In this study, we report the association of the rs738407, rs738409, and rs2896019 variants of the patatin-like phospholipase domain-containing protein 3 (PNPLA3) (adiponutrin) gene with nonalcoholic steatohepatitis (NASH) (χ(2)=14.528, p=0.001; χ(2)=18.882, p=0.000; χ(2)=7.449, p=0.024, respectively) in 80 patients with NASH and 303 healthy controls. We genotyped the subjects using three polymerase chain reaction-restriction fragment length polymorphism methods developed in our laboratory. Our findings confirm the findings of the recent case-control and genome-wide association studies carried out in different populations around the world. Thus, the three variants in PNPLA3 gene may be a genetic risk factor for NASH.
1 Department of Medical Biology and Genetics, University of Kocaeli , Kocaeli, Turkey .
Eylul Ece
EE
Islek
Ali
A
Sazci
Mavi Deniz
MD
Ozel
Cem
C
Aygun
D016022:Case-Control Studies; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008049:Lipase / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D065626:Non-alcoholic Fatty Liver Disease / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D014421:Turkey; D000217:Acyltransferases; D054512:Phospholipases A2, Calcium-Independent
D005819:Genetic Markers; D008049:Lipase; D008565:Membrane Proteins; C533682:PNPLA3 protein, human; D000217:Acyltransferases; D054512:Phospholipases A2, Calcium-Independent