Scholarlink

Background <p>Genetic factors play an important role in metabolic disease susceptibility. Apolipoproteins E (<i>APOE</i>) and A1 (<i>APOA1</i>) are key regulators of lipid metabolism and have been individually associated with dyslipidemia and type 2 diabetes mellitus (T2DM).</p> Objective <p>This study aimed to examine the individual and combined associations of <i>APOE</i> (rs429358, rs7412) and <i>APOA1</i> (rs5069) gene polymorphisms with obesity and T2DM.</p> Methods <p>A case–control study was conducted including 350 participants categorized into four groups: controls (n = 100), euglycemic obese individuals (n = 100), obese individuals with T2DM (n = 100), and non-obese individuals with T2DM (n = 50). Biochemical parameters, including lipid profiles and glycemic indices, were assessed. Genotyping was performed using TaqMan<sup>®</sup> SNP genotyping assays.</p> Results <p>Metabolic disturbances and dyslipidemia were observed across all patient groups, with the most pronounced abnormalities in obese individuals with T2DM. The <i>APOE</i> ε4 allele and ε4/ε4 genotype were significantly associated with obese T2DM compared with controls and euglycemic obese subjects. The <i>APOA1</i> rs5069 A allele and AA genotype were associated with both obesity and T2DM. Spearman correlation analysis revealed a positive co-occurrence of <i>APOE</i> and <i>APOA1</i> genotypes in euglycemic obese (ρ = 0.264, p = 0.008) and obese T2DM (ρ = 0.347, p &lt; 0.001) groups, but not in non-obese T2DM individuals. However, in multivariate logistic regression models adjusted for age, sex, and BMI, the <i>APOE</i> × <i>APOA1</i> interaction term did not reach statistical significance (p = 0.138).</p> Conclusion <p><i>APOE</i> ε4 and <i>APOA1</i> rs5069 A alleles were independently associated with obesity-related T2DM. Although these variants demonstrated correlated distribution patterns in obese individuals, the formal gene–gene interaction on T2DM risk was not statistically significant after multivariable adjustment. These findings suggest that obesity may represent a metabolic context in which combined genetic associations are more evident, warranting further investigation in larger and well-powered cohorts.</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

The interplay of APOE and APOA1 gene polymorphisms modulates the risk of type 2 diabetes mellitus in an obese population: a case–control study"

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年1月27日

查看全文
  • Nagla Usama,
  • Amr E. Ahmed,
  • Salma Mekheimer,
  • Khaled Elhadidy,
  • Mahmoud Farid

摘要

Background

Genetic factors play an important role in metabolic disease susceptibility. Apolipoproteins E (APOE) and A1 (APOA1) are key regulators of lipid metabolism and have been individually associated with dyslipidemia and type 2 diabetes mellitus (T2DM).

Objective

This study aimed to examine the individual and combined associations of APOE (rs429358, rs7412) and APOA1 (rs5069) gene polymorphisms with obesity and T2DM.

Methods

A case–control study was conducted including 350 participants categorized into four groups: controls (n = 100), euglycemic obese individuals (n = 100), obese individuals with T2DM (n = 100), and non-obese individuals with T2DM (n = 50). Biochemical parameters, including lipid profiles and glycemic indices, were assessed. Genotyping was performed using TaqMan® SNP genotyping assays.

Results

Metabolic disturbances and dyslipidemia were observed across all patient groups, with the most pronounced abnormalities in obese individuals with T2DM. The APOE ε4 allele and ε4/ε4 genotype were significantly associated with obese T2DM compared with controls and euglycemic obese subjects. The APOA1 rs5069 A allele and AA genotype were associated with both obesity and T2DM. Spearman correlation analysis revealed a positive co-occurrence of APOE and APOA1 genotypes in euglycemic obese (ρ = 0.264, p = 0.008) and obese T2DM (ρ = 0.347, p < 0.001) groups, but not in non-obese T2DM individuals. However, in multivariate logistic regression models adjusted for age, sex, and BMI, the APOE × APOA1 interaction term did not reach statistical significance (p = 0.138).

Conclusion

APOE ε4 and APOA1 rs5069 A alleles were independently associated with obesity-related T2DM. Although these variants demonstrated correlated distribution patterns in obese individuals, the formal gene–gene interaction on T2DM risk was not statistically significant after multivariable adjustment. These findings suggest that obesity may represent a metabolic context in which combined genetic associations are more evident, warranting further investigation in larger and well-powered cohorts.