Background and aims <p>Metabolic dysfunction-associated steatotic liver disease (MASLD) is a growing global health burden. While metabolic and lifestyle factors are central to its development, genetic predispositions also play a role. Variants in the cholesteryl ester transfer protein (CETP) gene, involved in lipid metabolism, may influence MASLD susceptibility. This study aims to investigate the role of CETP gene variants in MASLD, aiming to uncover genetic links to steatosis development.</p> Methods <p>This study is a case-control study. A total of 100 participants (80 MASLD patients and 20 controls) were categorized into four groups: obese diabetic, obese non-diabetic, lean diabetic, and lean non-diabetic. All were recruited from Minia University’s outpatient clinic between 2021 and 2022. Demographic, clinical, and genetic data were collected.</p> Results <p>Of 100 subjects, 70% were female, and 28% had hypertension. Lipid profiles showed significant differences in total cholesterol and triglycerides (<i>P</i> &lt; 0.001). The mutant CETP genotype (AA) was more common in lean nondiabetic individuals, whereas the wild-type CC was predominant in obese diabetic patients (<i>P</i> &lt; 0.001). Wild-type CC correlated with higher hepatic steatosis index (HSI) and fatty liver index (FLI) values, indicating more severe steatosis. In contrast, the AA genotype was associated with lower HSI and FLI scores (<i>P</i> &lt; 0.001).</p> Conclusion <p>CETP gene variants influence MASLD severity, especially in metabolically distinct groups. The wild-type CC is linked to higher HSI and FLI scores, indicating more severe steatosis in obese diabetics, while the mutant (AA) genotype correlates with lower indices, suggesting protection in lean nondiabetic individuals.</p>

错误:搜索内容不能为空,请输入英文关键词
错误:关键词超出字数限制,请精简
高级检索

Cholesteryl ester transfer protein gene variants and metabolic dysfunction-associated steatotic liver disease: genetic associations with steatosis in obese and lean individuals

  • Asmaa AbdelFattah,
  • Mahmoud Kattab,
  • Hosny Abdel Ghany,
  • Lamiaa Aly,
  • Ahmed Mady,
  • Aly Hamdi,
  • Riham Soliman,
  • Gamal Shiha,
  • Nada El-Domiaty

摘要

Background and aims

Metabolic dysfunction-associated steatotic liver disease (MASLD) is a growing global health burden. While metabolic and lifestyle factors are central to its development, genetic predispositions also play a role. Variants in the cholesteryl ester transfer protein (CETP) gene, involved in lipid metabolism, may influence MASLD susceptibility. This study aims to investigate the role of CETP gene variants in MASLD, aiming to uncover genetic links to steatosis development.

Methods

This study is a case-control study. A total of 100 participants (80 MASLD patients and 20 controls) were categorized into four groups: obese diabetic, obese non-diabetic, lean diabetic, and lean non-diabetic. All were recruited from Minia University’s outpatient clinic between 2021 and 2022. Demographic, clinical, and genetic data were collected.

Results

Of 100 subjects, 70% were female, and 28% had hypertension. Lipid profiles showed significant differences in total cholesterol and triglycerides (P < 0.001). The mutant CETP genotype (AA) was more common in lean nondiabetic individuals, whereas the wild-type CC was predominant in obese diabetic patients (P < 0.001). Wild-type CC correlated with higher hepatic steatosis index (HSI) and fatty liver index (FLI) values, indicating more severe steatosis. In contrast, the AA genotype was associated with lower HSI and FLI scores (P < 0.001).

Conclusion

CETP gene variants influence MASLD severity, especially in metabolically distinct groups. The wild-type CC is linked to higher HSI and FLI scores, indicating more severe steatosis in obese diabetics, while the mutant (AA) genotype correlates with lower indices, suggesting protection in lean nondiabetic individuals.