Department of Gastroenterology, The First Hospital of Quanzhou Affiliated to Fujian Medical University, Quanzhou, People's Republic of China,
Clinical Laboratory, The First Hospital of Quanzhou Affiliated to Fujian Medical University, Quanzhou, People's Republic of China.
Arch Endocrinol Metab. 2024 Mar 15;68:e230195. doi: 10.20945/2359-4292-2023-0195.
The study aims to explore the relationship between lipoprotein lipase variants and hyperlipidemic acute pancreatitis (HLAP) in the southeastern Chinese population.
In total, 80 participants were involved in this study (54 patients with HLAP and 26 controls). All coding regions and intron-exon boundaries of the gene were sequenced. The correlations between variants and phenotypes were also analysed.
The rate of rare variants in the HLAP group is 14.81% (8 of 54), higher than in controls. Among the detected four variants (rs3735959, rs371282890, rs761886494 and rs761265900), the most common variant was rs371282890. Further analysis demonstrated that subjects with rs371282890 "GC" genotype had a 2.843-fold higher risk for HLAP (odds ratio [OR]: 2.843, 95% confidence interval [CI]: 1.119-7.225, = 0.028) than subjects with the "CC" genotype. After adjusting for sex, the association remained significant (adjusted OR: 3.083, 95% CI: 1.208-7.869, p = 0.018). Subjects with rs371282890 "GC" genotype also exhibited significantly elevated total cholesterol, triglyceride and non-high-density lipoprotein cholesterol levels in all the participants and the HLAP group ( < 0.05).
Detecting rare variants in might be valuable for identifying higher-risk patients with HLAP and guiding future individualised therapeutic strategies.
本研究旨在探讨载脂蛋白脂酶变异与中国东南部地区高脂血症性急性胰腺炎（HLAP）之间的关系。
共纳入 80 名参与者（54 例 HLAP 患者和 26 名对照者）。对基因的所有编码区和内含子-外显子边界进行测序。还分析了变异与表型之间的相关性。
HLAP 组罕见变异的发生率为 14.81%（54 例中的 8 例），高于对照组。在检测到的四个变异（rs3735959、rs371282890、rs761886494 和 rs761265900）中，最常见的变异是 rs371282890。进一步分析表明，rs371282890“GC”基因型的个体发生 HLAP 的风险增加 2.843 倍（比值比[OR]：2.843，95%置信区间[CI]：1.119-7.225， = 0.028），而“CC”基因型的个体发生 HLAP 的风险增加 2.843 倍。在校正性别后，相关性仍然显著（调整后的 OR：3.083，95%CI：1.208-7.869，p = 0.018）。在所有参与者和 HLAP 组中，rs371282890“GC”基因型的个体总胆固醇、甘油三酯和非高密度脂蛋白胆固醇水平也显著升高（<0.05）。
检测载脂蛋白脂酶中的罕见变异可能有助于识别 HLAP 高危患者，并指导未来的个体化治疗策略。
