Research Article

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

Table 2

Comparison of PNPLA3 rs738409, TM6SF2 rs58542926, KLF6 rs3750861, SOD2 rs4880, and LPIN1 rs13412852 polymorphisms prevalence, according to study subgroups.

Healthy SubjectsNoncirrhotic NAFLDNASH cirrhosis

PNPLA3
 CC53 (58.9%)30 (32.3%)20 (18.7%)<0.001
 CG30 (33.3%)36 (38.7%)44 (41.1%)
 GG7 (7.8%)27 (29%)43 (40.2%)
TM6SF2
 CC79 (87.8%)74 (79.6%)79 (73.8%)0.105
 CT11 (12.2%)17 (18.3%)27 (25.2%)
 TT0 (0%)2 (2.2%)1 (0.9%)
TM6SF2 dichotomized
 CC79 (87.8%)74 (79.6%)79 (73.8%)0.06
 CT/TT11 (12.2%)19 (20.4%)28 (26.2%)
KLF6
 CC79 (87.8%)80 (86%)83 (77.6%)0.224
 CT11 (12.2%)13 (14%)23 (21.5%)
 TT0 (0%)0 (0%)1 (0.9%)
KLF6 dichotomized
 CC79 (87.8%)80 (86%)83 (77.6%)0.113
 CT/TT11 (12.2%)13 (14%)24 (22.4%)
SOD2
 CC26 (28.9%)20 (21.5%)30 (28%)0.795
 CT42 (46.7%)48 (51.6%)49 (45.8%)
 TT22 (24.4%)25 (26.9%)28 (26.2%)
LPIN1
 CC38 (42.2%)45 (48.4%)49 (45.8%)0.672
 CT41 (45.6%)37 (39.8%)50 (46.7%)
 TT11 (12.2%)11 (11.8%)8 (7.5%)

Data are shown as absolute number and column percentages. for overall chi-square test. < 0.05 and < 0.001 versus healthy subjects; PNPLA3: patatin-like phospholipase domain containing protein 3; TM6SF2: transmembrane 6 superfamily member 2; KLF6: Kruppel-like factor 6; SOD2: superoxide dismutase 2; LPIN1: lipin 1.