Jarullah Hayder Huwais, Saleh Eman Saadi
Department of Clinical Laboratory Science, College of Pharmacy, University of Baghdad, Baghdad 10047, Iraq.
Int J Mol Sci. 2025 Apr 24;26(9):4015. doi: 10.3390/ijms26094015.
Type 2 diabetes mellitus (T2DM) is a prevalent metabolic disorder caused by impaired insulin secretion from pancreatic β-cells and insulin resistance in target tissues. Genome-wide association studies have identified over 50 genetic variants linked to T2DM, including polymorphisms associated with the disease. This study investigates the impact of the (rs174547) polymorphism in T2DM patients compared to healthy controls and examines serum levels of omega-3 and omega-6 fatty acids, as well as D5D and D6D enzyme levels and activity. This case-control study included 120 participants: 60 newly diagnosed T2DM patients and 60 apparently healthy controls matched for age, sex, and other sociodemographic factors. Polyunsaturated fatty acid (PUFA) levels and desaturase enzyme activities in the n-3 and n-6 pathways were assessed using ELISA and gas chromatography. gene polymorphisms were analyzed via Sanger sequencing. Genotype and allele frequencies of (rs174547) differed significantly between groups, with higher frequencies of C-containing alleles in T2DM patients. Multivariate analysis revealed a significant association between the C-allele genotype and increased T2DM risk, independent of sociodemographic variables, lipid profile, and inflammatory markers. In conclusion; reduced serum levels of omega-3 and omega-6 fatty acids in T2DM were associated with decreased desaturase enzyme activity. The (rs174547) polymorphism is significantly associated with T2DM risk, with the minor allele linked to lower desaturase activity.
2型糖尿病(T2DM)是一种常见的代谢紊乱疾病,由胰腺β细胞胰岛素分泌受损和靶组织胰岛素抵抗引起。全基因组关联研究已经确定了50多个与T2DM相关的基因变异,包括与该疾病相关的多态性。本研究调查了与健康对照相比,(rs174547)多态性对T2DM患者的影响,并检测了ω-3和ω-6脂肪酸的血清水平,以及D5D和D6D酶的水平和活性。这项病例对照研究包括120名参与者:60名新诊断的T2DM患者和60名在年龄、性别和其他社会人口统计学因素方面相匹配的明显健康的对照者。使用酶联免疫吸附测定法(ELISA)和气相色谱法评估n-3和n-6途径中的多不饱和脂肪酸(PUFA)水平和去饱和酶活性。通过桑格测序分析基因多态性。两组之间(rs174547)的基因型和等位基因频率存在显著差异,T2DM患者中含C等位基因的频率更高。多变量分析显示,C等位基因基因型与T2DM风险增加之间存在显著关联,独立于社会人口统计学变量、血脂谱和炎症标志物。总之,T2DM患者中ω-3和ω-6脂肪酸血清水平降低与去饱和酶活性降低有关。(rs174547)多态性与T2DM风险显著相关,次要等位基因与较低的去饱和酶活性有关。