Lisboa QC, Nardelli MJ, Pereira PA, Miranda DM, Ribeiro SN, Costa RSN, Versiani CA, Vidigal PVT, Ferrari TCA, Couto CA. PNPLA3 and TM6SF2 polymorphisms in Brazilian patients with nonalcoholic fatty liver disease. World J Hepatol 2020; 12(10): 792-806 [PMID: 33200017 DOI: 10.4254/wjh.v12.i10.792]
Corresponding Author of This Article
Claudia Alves Couto, MD, PhD, Associate Professor, Departament de Clínica Médica, Faculty of Medicine, Universidade Federal de Minas Gerais, Avenida Professor Alfredo Balena 190, Belo Horizonte 30130100, Brazil. clalcouto@gmail.com
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Control Study
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Hepatol. Oct 27, 2020; 12(10): 792-806 Published online Oct 27, 2020. doi: 10.4254/wjh.v12.i10.792
Table 1 Clinical and demographic characteristics of nonalcoholic fatty liver disease patients and controls
Variables
NAFLD, n = 148
Controls, n = 137
P value
Female
111 (75.0%)
97 (70.8%)
0.426
Age (yr)
57 (46.3-63)
55 (43 61.5)
0.610
BMI (kg/m2)
32.8 ± 4.8
25.4 ± 3.3
< 0.0001
Hypertension
98 (66.2%)
24 (17.5%)
< 0.0001
Diabetes mellitus
69 (46.6%)
12 (8.8%)
< 0.0001
Dyslipidemia
108 (73.0%)
19 (13.5%)
< 0.0001
Fasting glucose (mg/dL)
101 (90-124.8)
88 (83-98)
< 0.0001
AST (U/L)
34 (25.5-56.5)
24 (20.3-29)
< 0.0001
ALT (U/L)
38 (28-70.5)
29.5 (23-38)
< 0.0001
GGT (U/L)
53 (29-116)
28 (18.5-55.5)
< 0.0001
ALP (U/L)
97 (74-116.8)
75 (58.3-83.8)
< 0.0001
Total bilirubin (mg/dL)
0.6 (0.5-0.9)
0.7 (0.5-0.8)
0.438
Triglycerides (mg/dL)
162.5 (110-205.3)
126.5 (93-176)
0.006
Total cholesterol (mg/dL)
195.8 ± 41.5
179.9 ± 47.1
0.006
VLDL (mg/dL)
32 (22-42.3)
24.5 (17.3-33.8)
0.001
HDL (mg/dL)
48 (39.5-54)
47 (40.5-60.8)
0.404
LDL (mg/dL)
107.5 (89.5-137.9)
96 (67.8-117.5)
0.009
Platelets (109/L)
219.4 ± 81.8
254.6 ± 82.4
0.439
Ferritin (ng/mL)
89 (42.7-168.5)
32 (32-32)
0.349
D vitamin (ng/mL)
22 (19-27.7)
26.95 (20.5-32.5)
0.139
Table 2 Clinical and demographic characteristics of the nonalcoholic steatohepatitis and simple steatosis population
Variables
NASH, n = 54
Simple steatosis, n = 94
P value
Female
44 (81.5%)
67 (71.3%)
0.169
Age (yr)
59 (45.8-63)
57 (47.8-64)
0.935
BMI (kg/m2)
32.7 ± 4.8
32.8 ± 4.8
0.968
WC
106.6 (100-114)
105.3 (96-113.8)
0.306
Arterial hypertension
39 (72.2%)
59 (62.8%)
0.886
Diabetes mellitus
35 (64.8%)
34 (36.2%)
0.007
Dyslipidemia
45 (83.3%)
63 (67.0%)
0.248
Fasting insulin
16.5 (11.9-31)
14 (8-18)
0.055
Fasting glucose (mg/dL)
112.5 (91-151.5)
98 (90-112)
0.019
AST (U/L)
53.5 (31.7-69)
30 (23-38)
< 0.001
ALT (U/L)
61 (36-79.3)
33 (24-49)
< 0.001
GGT (U/L)
87 (51.7-164.3)
39 (27-73.3)
< 0.001
ALP (U/L)
99 (78-127.5)
88 (72-116)
0.075
Total bilirubin (mg/dL)
0.59 (0.5-0.9)
0.6 (0.5-0.9)
0.986
Triglycerides (mg/dL)
162 (113-227.8)
163 (109.25-201)
0.544
Total cholesterol (mg/dL)
196.4 ± 39.9
195.4 ± 42.7
0.793
VLDL (mg/dL)
32 (22.8-45.3)
32 (22-40.8)
0.440
HDL (mg/dL)
46 (37.8-53)
48 (40-55)
0.432
LDL (mg/dL)
108.5 (89-138.4)
107 (88.5-137.4)
0.793
Platelets (109/L)
184 ± 67.4
308 ± 1.4
0.053
Ferritin (ng/mL)
109 (56.75-267.5)
69 (37.2-143.8)
0.019
D vitamin (ng/mL)
21.1 (17.55-25.9)
23.4 (19-28)
0.086
HOMA-IR
5.26 (2.97-8.8)
3.36 (1.77-4.7)
0.330
Table 3PNPLA3 rs738409 genotype frequencies in nonalcoholic fatty liver disease patients and controls
Genotype frequency % (n)
P value
CC
CG
GG
NAFLD
37.2 (55)
43.9 (65)
18.9 (28)
< 0.001
Controls
58.4 (80)
31.4 (43)
10.2 (14)
Table 4 Association between the PNPLA3 rs738409 genotype and nonalcoholic fatty liver disease or nonalcoholic steatohepatitis, adjusted for age, gender, body mass index and diabetes
Genotypes
OR
95%CI
P value
NAFLD vs Control
CC vs CG/GG
1.69
1.21–2.36
0.002
CC vs GG
3.13
1.49–6.57
0.003
NASH vs SS
CC vs CG/GG
3.50
1.84–6.64
< 0.001
CC vs GG
5.53
2.04-14.92
0.001
Table 5 Association of the PNPLA3 rs738409 genotype and activity of nonalcoholic steatohepatitis and fibrosis, adjusted for age, gender, body mass index and diabetes, evaluated by multivariate binary logistic regression analysis
Genotypes
OR
95%CI
P value
Activity of NASH (A > 2 vs A < 2)
CC vs CG/GG
0.65
0.22-1.88
0.433
CC vs GG
17.11
1.87 - 156.25
0.012
Fibrosis (presence vs absence)
CC vs CG/GG
3.05
1.01-9.17
0.046
CC vs GG
7.42
1.55-35.47
0.012
Table 6TM6SF2 rs58542926 genotype frequencies in nonalcoholic fatty liver disease patients and controls
Genotype frequency % (n)
P value
CC
CT
TT
NAFLD
83.2 (125)
14.9 (22)
0.7 (1)
0.78
Controls
84.5 (114)
16.1 (22)
0.7 (1)
Citation: Lisboa QC, Nardelli MJ, Pereira PA, Miranda DM, Ribeiro SN, Costa RSN, Versiani CA, Vidigal PVT, Ferrari TCA, Couto CA. PNPLA3 and TM6SF2 polymorphisms in Brazilian patients with nonalcoholic fatty liver disease. World J Hepatol 2020; 12(10): 792-806