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Mar 14, 2025 (publication date) through Apr 28, 2026
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Publication Name
World Journal of Gastroenterology
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1007-9327
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

Case Control Study
©The Author(s) 2025.
World J Gastroenterol. Mar 14, 2025; 31(10): 103716
Published online Mar 14, 2025. doi: 10.3748/wjg.v31.i10.103716
Table 1 Baseline demographics, mean ± SD/n (%)
Variables
Total (n = 1310)
Screening (n = 264)
Validation (n = 1046)
P value
MASLD577 (44.0)133 (50.4)444 (42.4)
Age (years)48.6 ± 13.147.8 ± 12.348.8 ± 13.30.238
Sex (male)617 (47.2)157 (59.5)460 (44.1)8.4 × 10-6
Body mass index (kg/m2)24.5 ± 3.824.3 ± 3.924.5 ± 3.80.545
Waist circumference (cm)81.6 ± 10.583.2 ± 11.281.2 ± 10.20.017
Hip circumference (cm)96.2 ± 7.496.5 ± 7.796.1 ± 7.40.483
Fasting glucose (mg/dL)95.1 ± 29.498.1 ± 26.994.3 ± 30.00.063
Cholesterol (mg/dL)196.7 ± 38.6185.5 ± 31.3199.5 ± 39.71.6 × 10-9
Triglyceride (mg/dL)130.8 ± 97.1127.4 ± 77.3131.6 ± 101.50.530
High density lipoprotein (mg/dL)56.7 ± 14.255.4 ± 13.157.0 ± 14.50.086
Low density lipoprotein (mg/dL)126.1 ± 35.6125.0 ± 35.1126.4 ± 35.70.569
AST ULN ratio0.58 ± 0.290.73 ± 0.270.54 ± 0.281.1 × 10-22
ALT ULN ratio0.58 ± 0.410.73 ± 0.520.55 ± 0.379.0 × 10-8
Diabetes mellitus74 (5.8)18 (6.9)56 (5.6)0.410
Hypertension213 (16.7)42 (16.2)171 (16.9)0.798
Hyperlipidemia142 (12.0)34 (13.4)108 (11.7)0.455
MASLD: Metabolic dysfunction-associated steatotic liver disease; AST: Aspartate aminotransferase; ALT: Alanine aminotransferase; ULN: Upper limit of normal.
Full Size Table
Table 2 The association between mt12361 and steatotic liver disease
CMRFScreening
Validation
All
mt12361
χ2
Trend test
mt12361
χ2
Trend test
mt12361
χ2
Trend test
A (%)
G (%)
P value
OR (95%CI)
P value
A (%)
G (%)
P value
OR (95%CI)
P value
A (%)
G (%)
P value
OR (95%CI)
P value
4-535 (85.4)6 (14.6)0.00113.37 (2.59-69.05)1.5 × 10-4102 (97.1)3 (2.9)0.4451.60 (0.44-5.76)0.165137 (93.8)9 (6.2)0.0013.79 (1.61-8.93)1.7 × 10-4
2-357 (89.1)7 (10.9)0.0039.58 (1.93-47.47)212 (95.9)9 (4.1)0.0552.31 (0.96-5.55)269 (94.4)16 (5.6)4.6 × 10-43.43 (1.65-7.13)
0-1156 (98.7)2 (1.3)Ref.Ref.652 (98.2)12 (1.8)Ref.Ref.808 (98.3)14 (1.7)Ref.Ref.
3-562 (84.9)11 (15.1)3.0 × 10-411.36 (2.44-52.80)1.3 × 10-4198 (97.5)5 (2.5)0.6371.29 (0.44-3.77)0.441260 (94.2)16 (5.8)0.0013.27 (1.55-6.89)0.001
1-258 (96.7)2 (3.3)0.5922.21 (0.30-16.05)205 (96.2)8 (3.8)0.1352.00 (0.79-5.04)263 (96.3)10 (3.7)0.0932.02 (0.88-4.67)
0128 (98.5)2 (1.5)Ref.Ref.563 (98.1)11 (1.9)Ref.Ref.691 (98.2)13 (1.8)Ref.Ref.
3-562 (84.9)11 (15.1)2.1 × 10-48.25 (2.54-26.85)5.1 × 10-5198 (97.5)5 (2.5)0.9681.02 (0.38-2.77)0.968260 (94.2)16 (5.8)3.6 × 10-32.55 (1.33-4.90)0.004
0-2186 (97.9)4 (2.1)Ref.Ref.768 (97.6)19 (2.4)Ref.Ref.954 (97.6)23 (2.4)Ref.Ref.
CMRF: Cardiometabolic risk factors; OR: Odds ratio; CI: Confidence interval.
Full Size Table
Table 3 Multivariate logistic regression analysis for the association between mt12361A>G and metabolic dysfunction-associated steatotic liver disease in the overall dataset, mean ± SD/n (%)
Univariate
Multivariate
MASLD
Control
P value
OR
95%CI
P value
n (%)577 (44.0)733 (56.0)
Age (years)49.7 ± 12.147.7 ± 13.90.0051.021.01-1.030.001
Sex (male)340 (59.0)277 (37.9)3.5 × 10-141.541.19-1.999.3 × 10-4
Cholesterol (mg/dL)200.4 ± 38.5193.8 ± 38.40.0020.990.99-1.004.9 × 10-4
LDL (mg/dL)133.7 ± 36.1120.2 ± 34.01.0 × 10-111.021.01-1.022.3 × 10-8
AST ULN ratio0.61 ± 0.280.55 ± 0.292.7 × 10-40.150.06-0.401.4 × 10-4
ALT ULN ratio0.70 ± 0.460.49 ± 0.351.1 × 10-1711.435.88-22.226.7 × 10-13
mt12361A>G26 (4.7)13 (1.8)0.0032.541.19-5.430.016
OR: Odds ratio; CI: Confidence interval; MASLD: Metabolic dysfunction-associated steatotic liver disease; LDL: Low density lipoprotein cholesterol; AST: Aspartate aminotransferase; ALT: Alanine aminotransferase; ULN: Upper limit of normal.
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Table 4 The association between mt12361 and steatotic liver disease in the diabetes and non-diabetic subgroups
CMRFDiabetes
Non-diabetes
mt12361
χ2
Trend test
mt12361
χ2
Trend test
A (%)
G (%)
P value
OR (95%CI)
P value
A (%)
G (%)
P value
OR (95%CI)
P value
4-528 (96.6)1 (3.4)1.0001.11 (0.07-18.55)0.926103 (92.8)8 (7.2)1.8 × 10-44.93 (1.97-12.35)5.3 × 10-5
2-38 (80.0)2 (20.0)0.1367.75 (0.62-96.63)245 (95.0)13 (5.0)1.6 × 10-33.37 (1.52-7.48)
0-131 (96.9)1 (3.1)Ref.Ref.762 (98.4)12 (1.6)Ref.Ref.
3-532 (94.1)2 (5.9)1.0001.81 (0.16-21.06)0.676212 (93.8)14 (6.2)3.9 × 10-43.90 (1.74-8.71)5.6 × 10-4
1-26 (85.7)1 (14.3)0.3474.83 (0.26-88.53)249 (96.9)8 (3.1)0.1671.90 (0.75-4.77)
029 (96.7)1 (3.3)Ref.Ref.649 (98.3)11 (1.7)Ref.Ref.
3-532 (94.1)2 (5.9)1.0001.09 (0.15-8.23)0.931212 (93.8)14 (6.2)9.2 × 10-43.12 (1.54-6.33)9.2 × 10-4
0-235 (94.6)2 (5.4)Ref.Ref.898 (97.9)19 (2.1)Ref.Ref.
CMRF: Cardiometabolic risk factors; OR: Odds ratio; CI: Confidence interval.
Full Size Table
Table 5 Multivariate logistic regression analysis for the association between mt12361A>G and metabolic dysfunction-associated steatotic liver disease among the non-diabetic subgroup, mean ± SD/n (%)
Univariate
Multivariate
MASLD
Control
P value
OR
95%CI
P value
n (%)508 (42.5)687 (57.5)
Age (years)49.1 ± 11.947.0 ± 13.70.0051.021.01-1.030.002
Sex (male)293 (57.8)256 (37.4)2.7 × 10-121.471.12-1.930.005
Cholesterol (mg/dL)199.7 ± 37.6193.5 ± 37.70.0050.990.98-1.005.7 × 10-4
LDL (mg/dL)133.3 ± 35.6120.2 ± 33.92.0 × 10-101.021.01-1.022.3 × 10-7
AST ULN ratio0.61 ± 0.280.55 ± 0.304.3 × 10-40.170.06-0.480.001
ALT ULN ratio0.69 ± 0.460.49 ± 0.359.4 × 10-1610.775.34-21.713.2 × 10-11
mt12361A>G22 (4.6)11 (1.7)0.0042.801.22-6.410.015
OR: Odds ratio; CI: Confidence interval; MASLD: Metabolic dysfunction-associated steatotic liver disease; LDL: Low density lipoprotein cholesterol; AST: Aspartate aminotransferase; ALT: Alanine aminotransferase; ULN: Upper limit of normal.
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Table 6 Performance of the artificial intelligence models
Algorithm
AUC
Accuracy
F1
Precision
Recall
Training
Random forest1.0001.0001.0001.0001.000
XGBoost0.9700.9180.9180.9190.918
Naive Bayes0.8240.7470.7480.7570.747
Logistic regression0.8170.7450.7440.7440.745
Validation
Random forest0.8760.8020.8030.8070.802
XGBoost0.8610.7630.7640.7670.763
Naive Bayes0.8490.7760.7770.7860.776
Logistic regression0.8530.7560.7540.7540.756
AUC: Area under curve; XGBoost: eXtreme gradient boosting.
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