Chowdhary Rashmi, Masarkar Neha, Khadanga Sagar
Department of Biochemistry, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India.
Department of Medicine, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India.
J Lab Physicians. 2021 Jul 14;14(2):119-124. doi: 10.1055/s-0041-1731949. eCollection 2022 Jun.
Dyslipidemia is a multifactorial disease in which lipoproteins play an important role as one of the early markers for coronary heart disease (CHD). Mixed dyslipidemia is common in people with diabetes mellitus, but nondiabetic dyslipidemics (NDD) remain unidentified for the risk of developing dyslipidemia and eventually CHD. This pilot study attempts to analyze the genetic basis of lipid metabolism alterations, emphasizing the association between fatty acid-binding protein-2 (FABP2-Ala54Thr) and apolipoprotein-C3 (APOC3-rs5128) genetic polymorphism, as a risk for developing dyslipidemia and CHD in NDD. Total 90 subjects-30 DD, 30 NDD, and 30 apparently healthy subjects representing Central India-were included. Biochemical analysis and DNA genotyping were done by polymerase chain reaction restriction fragment length polymorphism. The biochemical parameters were reported as means ± standard deviation. One-way analysis of variance test was used to compare biochemical parameters of three groups. Chi-squared test was done to compare genotype distributions. The strength of association was assessed by odds ratios (ORs) with 95% confidence intervals (CIs). All statistical analysis was done using SPSS-PC software and Graph Pad. In NDD, maximum polymorphism was observed followed by DD and least polymorphism was observed in controls. There was a significant association of G allele with occurrence of hypertriglyceridemia ( < 0.05); however, no such association was found for FABP2 A allele ( > 0.05). Logistic regression analysis revealed APOC3 polymorphism to be significantly associated with dyslipidemia (OR = 2.6667, 95% CI = 1.0510-6.7663, = 0.0341); no such association was found for FABP2 polymorphism (OR = 0.4643, 95% CI = 0.1641-1.3136, = 0.1347). The triglyceride and cholesterol values in individuals with homozygous genotype indicate that genetic study is comparable to the biochemical findings in carriers of polymorphic allele than noncarriers, especially in NDD patients. Pilot study indicates that the presence of gene polymorphism is associated with pro-atherogenic dyslipidemia in nondiabetic patients and may raise risk of CHD. This information could be used for preventive strategies in NDD group that may otherwise go unnoticed.
血脂异常是一种多因素疾病，其中脂蛋白作为冠心病（CHD）的早期标志物之一发挥着重要作用。混合性血脂异常在糖尿病患者中很常见，但非糖尿病血脂异常者（NDD）发生血脂异常并最终发展为冠心病的风险仍未得到确认。 这项初步研究试图分析脂质代谢改变的遗传基础，重点关注脂肪酸结合蛋白2（FABP2 - Ala54Thr）和载脂蛋白C3（APOC3 - rs5128）基因多态性之间的关联，作为NDD发生血脂异常和冠心病的风险因素。 总共纳入了90名受试者，其中30名血脂异常者（DD）、30名NDD以及30名代表印度中部的明显健康受试者。通过聚合酶链反应 - 限制性片段长度多态性进行生化分析和DNA基因分型。 生化参数报告为均值±标准差。采用单因素方差分析来比较三组的生化参数。进行卡方检验以比较基因型分布。通过比值比（OR）及其95%置信区间（CI）评估关联强度。所有统计分析均使用SPSS - PC软件和Graph Pad软件完成。 在NDD中观察到的多态性最高，其次是DD，而在对照组中观察到的多态性最少。G等位基因与高甘油三酯血症的发生存在显著关联（P＜0.05）；然而，未发现FABP2 A等位基因有此类关联（P＞0.05）。逻辑回归分析显示，APOC3多态性与血脂异常显著相关（OR = 2.6667，95%CI = 1.0510 - 6.7663，P = 0.0341）；未发现FABP2多态性有此类关联（OR = 0.4643，95%CI = 0.1641 - 1.3136，P = 0.1347）。纯合基因型个体的甘油三酯和胆固醇值表明，基因研究与多态性等位基因携带者而非非携带者的生化结果具有可比性，尤其是在NDD患者中。 初步研究表明，基因多态性的存在与非糖尿病患者的促动脉粥样硬化性血脂异常相关，可能会增加冠心病风险。这些信息可用于NDD组的预防策略，否则这些患者可能未被注意到。
